The DOI matches its Crossref record; 40 of the 40 references it cites were found in a registry or an index; none of the 14 sources its claims cite is checked for support yet.
Evolutionarily Dynamic Alternative Splicing of GPR56 Regulates Regional Cerebral Cortical Patterning
Open accessAbstract
Development of surface folds of the human brain is controlled in sections. [Also see Perspective by Rash and Rakic ]
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23 Own result · 12 Own interpretation · 9 Not checked yet · 1 No basis given
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“Dominant-negative RFX abrogates normal, but not mutant, e1m promoter activity on embryonic day 13.5 (E13.5) in mouse cortical cultures”
§ Evolutionarily Dynamic Alternative Splicing of GPR56 Regulates Regional Cerebral Cortical Patterning > Abstract
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“The two Irish-American families carry the mutation on the same chromosomal haplotype, which reflects a common founder.”
§ Evolutionarily Dynamic Alternative Splicing of GPR56 Regulates Regional Cerebral Cortical Patterning > Abstract
plaincorrelationaln = 2- Asserted: passes — The authors put it forward as true.
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“The element is located <150 bp upstream of the transcriptional start site of noncoding exon 1m (e1m) of GPR56”
§ Evolutionarily Dynamic Alternative Splicing of GPR56 Regulates Regional Cerebral Cortical Patterning > Abstract
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“In contrast, the 23-kb construct containing the 15-bp deletion drives expression in medial, but not lateral, cortex or lateral ganglionic eminence”
§ Evolutionarily Dynamic Alternative Splicing of GPR56 Regulates Regional Cerebral Cortical Patterning > Abstract
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“we performed yeast one-hybrid (Y1H) screening of a mouse forebrain cDNA library with the human cis-regulatory element as bait and obtained multiple yeast colonies encoding members of the regulatory factor X (Rfx) transcription factor family”
§ Evolutionarily Dynamic Alternative Splicing of GPR56 Regulates Regional Cerebral Cortical Patterning > Abstract
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“RFX1 and GPR56 colocalize in germinal zones of fetal human brain”
§ Evolutionarily Dynamic Alternative Splicing of GPR56 Regulates Regional Cerebral Cortical Patterning > Abstract
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“Chromatin immunoprecipitation sequencing confirmed RFX3 binding to the element”
§ Evolutionarily Dynamic Alternative Splicing of GPR56 Regulates Regional Cerebral Cortical Patterning > Abstract
plaincorrelational- Asserted: passes — The authors put it forward as true.
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“This construct drives GFP expression in the entire central nervous system, including neocortex, and recapitulates the location and relative amount of expression of endogenous mouse GPR56 protein”
§ Evolutionarily Dynamic Alternative Splicing of GPR56 Regulates Regional Cerebral Cortical Patterning > Abstract
plaincorrelational- Asserted: passes — The authors put it forward as true.
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“we sequenced 38 conserved non-exonic elements (table S2), in one of which we identified a small deletion in all five individuals. The mutated element normally contains two copies of a 15–base pair (bp) tandem repeat, but all affected individuals have a homozygous deletion of one 15-bp repeat”
§ Evolutionarily Dynamic Alternative Splicing of GPR56 Regulates Regional Cerebral Cortical Patterning > Abstract
plaincorrelationaln = 5- Asserted: passes — The authors put it forward as true.
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“The mouse e1m promoter drives β-gal expression broadly in the nervous system in diverse cell types”
§ Evolutionarily Dynamic Alternative Splicing of GPR56 Regulates Regional Cerebral Cortical Patterning > Abstract
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“The diverse noncoding first exons have distinct expression profiles, with e1m being the most robustly transcribed first exon in fetal human brain but with several other alternative transcripts also expressed in fetal and adult brain”
§ Evolutionarily Dynamic Alternative Splicing of GPR56 Regulates Regional Cerebral Cortical Patterning > Abstract
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“The deletion is heterozygous in parents of the affected individuals, who manifest no obvious clinical signs, and is absent from thousands of control chromosomes in the Single-Nucleotide Polymorphism Database and 1000 Genomes database.”
§ Evolutionarily Dynamic Alternative Splicing of GPR56 Regulates Regional Cerebral Cortical Patterning > Abstract
plainn = 5- Asserted: passes — The authors put it forward as true.
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“RFX1 and RFX3 bind the normal element in vitro, with binding decreased 60 to 70% by the 15-bp deletion”
§ Evolutionarily Dynamic Alternative Splicing of GPR56 Regulates Regional Cerebral Cortical Patterning > Abstract
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“It is noteworthy that the Turkish family carries the same deletion on a distinct haplotype, which indicates that the mutation arose independently”
§ Evolutionarily Dynamic Alternative Splicing of GPR56 Regulates Regional Cerebral Cortical Patterning > Abstract
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“RFX and GPR56 expression patterns are correlated (fig. S5, A and B) (15), with RFX3 and RFX7 most prominent in human ventrolateral prefrontal cortex, the region affected in perisylvian polymicrogyria”
§ Evolutionarily Dynamic Alternative Splicing of GPR56 Regulates Regional Cerebral Cortical Patterning > Abstract
What the sources say
- Not checked yetcites [15] Kang HJ Nature 478 483 489 2011 22031440 PMC3566780 source
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“Another noncoding GPR56 exon (exon 2), present only in primates, derives from a primate-specific Alu insertion”
§ Evolutionarily Dynamic Alternative Splicing of GPR56 Regulates Regional Cerebral Cortical Patterning > Abstract
plaindirect- Asserted: passes — The authors put it forward as true.
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“Gpr56 knockout mice show fewer phosphohistone H3 (PH3)–positive mitotic progenitor cells and TBR2-positive intermediate progenitors than wild-type mice in the neocortex at E14.5.”
§ Evolutionarily Dynamic Alternative Splicing of GPR56 Regulates Regional Cerebral Cortical Patterning > Abstract
plaincorrelational- Asserted: passes — The authors put it forward as true.
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“The cis-regulatory element upstream of GPR56 e1m is found in genomes of all placental mammals, but not monotremes, marsupials, or non-mammals”
§ Evolutionarily Dynamic Alternative Splicing of GPR56 Regulates Regional Cerebral Cortical Patterning > Abstract
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“the corresponding human e1m promoter has a variety of deletions and single-nucleotide variants, relative to the mouse sequence (fig. S6A), and drives much more limited expression in rostral-lateral cortex”
§ Evolutionarily Dynamic Alternative Splicing of GPR56 Regulates Regional Cerebral Cortical Patterning > Abstract
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In the paper
“GPR56 expression in developing human and marmoset neocortex is highest in the ventricular zone, as well as in the outer subventricular zone, which is expanded in mammals with larger brains”
§ Evolutionarily Dynamic Alternative Splicing of GPR56 Regulates Regional Cerebral Cortical Patterning > Abstract
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In the paper
“These data suggest that the cis-regulatory element upstream of e1m drives GPR56 expression in the perisylvian and lateral cortex, whereas disruption of the element, with consequent impairment of e1m expression, causes the perisylvian malformation.”
§ Evolutionarily Dynamic Alternative Splicing of GPR56 Regulates Regional Cerebral Cortical Patterning > Abstract
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In the paper
“GPR56 encodes an adhesion heterotrimeric guanine nucleotide–binding protein (G protein)–coupled receptor that is highly expressed in cortical progenitors (7, 16) and binds extracellular matrix proteins (17).”
§ Evolutionarily Dynamic Alternative Splicing of GPR56 Regulates Regional Cerebral Cortical Patterning > Abstract
What the sources say
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In the paper
“Loss of GPR56 disrupts radial glia and causes breaches in the pial basement membrane, through which some neurons over-migrate (9, 16).”
§ Evolutionarily Dynamic Alternative Splicing of GPR56 Regulates Regional Cerebral Cortical Patterning > Abstract
What the sources say
plaindirect- Asserted: passes — The authors put it forward as true.
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In the paper
“Postmortem analysis of a human with biallelic GPR56 coding mutations showed a very thin cortex, which suggested potential roles of GPR56 in neurogenesis as well (9).”
§ Evolutionarily Dynamic Alternative Splicing of GPR56 Regulates Regional Cerebral Cortical Patterning > Abstract
What the sources say
- Not checked yetcites [9] Bahi-Buisson N Brain 133 3194 3209 2010 20929962 source
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In the paper
“The elaboration of the GPR56 locus in gyrencephalic mammals, and especially humans, to produce many alternative splice forms with diverse expression patterns presents GPR56 as a key target that could influence the dramatic changes in shape and folding that characterize the forebrain of many mammals.”
§ Evolutionarily Dynamic Alternative Splicing of GPR56 Regulates Regional Cerebral Cortical Patterning > Abstract
hedgedconditional- Asserted: passes — The authors put it forward as true.
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In the paper
“Thus, GPR56 acquired many noncoding upstream exons and generated alternative splice forms with distinct expression patterns (fig. S2, B and D), in the lineage leading to humans. Transposable element insertion played a role in generating this diversity.”
§ Evolutionarily Dynamic Alternative Splicing of GPR56 Regulates Regional Cerebral Cortical Patterning > Abstract
plaindirect- Asserted: passes — The authors put it forward as true.
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It may state two separate claims as one.
The paper relies on this without support.
The mechanisms of cortical gyrification and the formation of specialized cortical regions are poorly understood.
“the genetic and evolutionary mechanisms of cortical gyrification are poorly understood”
“it is unsolved how these cortical regions form and how human cortical regions evolved from those of prehuman ancestors.”
The paper relies on this without support.
Abnormal gyrification invariably indicates abnormal cortical development.
“Abnormal gyrification, such as polymicrogyria (too many small gyri), invariably signals abnormal cortical development”
The paper relies on this without support.
Placental and nonplacental mammals diverged 85 to 100 million years ago.
“diverged 85 to 100 million years ago”
Claims other papers make about this one
Each is checked against this paper’s own text: does it say what the citing paper says it does?
In the citing paper
“For example, extensive variation in the cis-regulation of GPR56, a gene that promotes neural progenitor proliferation (Bae et al., 2014), is observed due to the expansion of the number of transcriptional start sites present in human GPR56 (17 start sites) as compared to its mouse ortholog Gpr56 (5 start sites; Figure 7A).”
From The Cellular and Molecular Landscapes of the Developing Human Central Nervous System (2016) · cites this paper as Bae et al., 2014
In the citing paper
“In addition to evolutionary changes in transcription factor binding sites, human-specific expansion, deletion, and de novo emergence of regulatory elements are also observed (Bae et al., 2014).”
From The Cellular and Molecular Landscapes of the Developing Human Central Nervous System (2016) · cites this paper as Bae et al., 2014
In the citing paper
“The cis-element of one of these human alternative transcriptional start sites (E1m) can drive expression of a reporter gene in RG cells throughout the embryonic neocortex of a transgenic mouse (Figure 7B).”
From The Cellular and Molecular Landscapes of the Developing Human Central Nervous System (2016) · cites this paper as Bae et al., 2014
In the citing paper
“Moreover, a 15 base pair deletion of the E1m cis-element caused perysylvian microgyria in humans and affected rostro-lateral GPR56 expression in mouse (Figures 7C and D).”
From The Cellular and Molecular Landscapes of the Developing Human Central Nervous System (2016) · cites this paper as Bae et al., 2014
In the citing paper
“Further experiments with sequences found in other mammals with a prominent sylvian fissure and gyrencephalic brain recapitulated this pattern of expression, suggesting that GPR56 was important for the evolutionary expansion of the perisylvian neocortex, a region involved in the processing of language and speech and other higher-order cognitive functions.”
From The Cellular and Molecular Landscapes of the Developing Human Central Nervous System (2016) · cites this paper as Bae et al., 2014
In the citing paper
“Intriguingly, the human noncoding element directs gene expression in a highly restricted pattern, whereas the mouse element directs more diffuse expression.”
From Genetic Changes Shaping the Human Brain (2015) · cites this paper as Bae et al., 2014
In the citing paper
“It turned out that the human GPR56 has at least 17 alternative promoters, whereas mouse Gpr56 has only a handful.”
From Genetic Changes Shaping the Human Brain (2015) · cites this paper as Bae et al., 2014
In the citing paper
“For example, many of the complex alternative promoters and exons of human GPR56 were derived from LINEs and SINEs (Bae et al., 2014).”
From Genetic Changes Shaping the Human Brain (2015) · cites this paper as Bae et al., 2014
In the citing paper
“Recently, polymicrogyria restricted to the neocortical areas surrounding the Sylvian fissure including Broca’s area, the primary language area, was identified (Bae et al., 2014). The causative mutation is found in the GPR56 locus, but disrupts a noncoding element, which constitutes a strong neural promoter during development, in the 5’-upstream regulatory region of GPR56.”
From Genetic Changes Shaping the Human Brain (2015) · cites this paper as Bae et al., 2014
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“More recently, the evolution of active genomic enhancers was demonstrated with the analysis of the human GPR56 locus, mutated in malformations of cortical development including polymicrogyria (Bae et al , 2014).”
The mystery of language evolution
HAUSER, M. D., Yang, C. D., Berwick, R. C., Tattersall, I., Ryan, M. J., Watumull, J., Chomsky, N., & Lewontin, R. C. (2014) · Frontiers in Psychology · doi:10.3389/fpsyg.2014.00401 · Cited by 343
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“Yet to date, just a handful of genetic loci have been associated with human-specific brain traits [3, 5, 25], and none have been shown to functionally impact corticogenesis in an evolutionarily divergent fashion.”
BackgroundHistone Acetylome-wide Association Study of Autism Spectrum Disorder
Sun, W., Poschmann, J., Cruz-Herrera del Rosario, R., Parikshak, N. N., Hajan, H. S., Kumar, V., Ramasamy, R., Belgard, T. G., Elanggovan, B., Wong, C. C. Y., et al. (2016) · Cell · doi:10.1016/j.cell.2016.10.031 · Cited by 306
“Though there is no known genetic association of RFX TFs with ASD, members of this family play key roles in neurodevelopment (Benadiba et al., 2012; Bae et al., 2014), and our results raise the hypothesis that they could serve as mediators of diverse upstream causal factors.”
Deconstructing cortical folding: genetic, cellular and mechanical determinants
Llinares-Benadero, C., & Borrell, V. (2019) · Nature Reviews Neuroscience · doi:10.1038/s41583-018-0112-2 · Cited by 243
Long, K. R., Newland, B., Florio, M., Kalebic, N., Langen, B., Kolterer, A., Wimberger, P., & Huttner, W. B. (2018) · Neuron · doi:10.1016/j.neuron.2018.07.013 · Cited by 196
Discrete domains of gene expression in germinal layers distinguish the development of gyrencephaly
Romero, C. D. J., Bruder, C. E. G., Tomasello, U., Sanz‐Anquela, J. M., & Borrell, V. (2015) · The EMBO Journal · doi:10.15252/embj.201591176 · Cited by 175
“…changes at short-range in mRNA expression levels for several genes known to be key in cortical folding, such as EOMES, TRNP1, and GPR56 (Piao et al , 2004; Baala et al , 2007; Stahl et al , 2013; Bae et al , 2014) locally within the prospective prefrontal cortex and frontal lobe (Fig 8A –”
Radial glia require PDGFD-PDGFRβ signalling in human but not mouse neocortex
Lui, J. H., Nowakowski, T. J., Pollen, A. A., Javaherian, A., Kriegstein, A. R., & Oldham, M. C. (2014) · Nature · doi:10.1038/nature13973 · Cited by 166
High-throughput functional comparison of promoter and enhancer activities
Nguyen, T. A., Jones, R. D., Snavely, A. R., Pfenning, A. R., Kirchner, R., Hemberg, M., & Gray, J. M. (2016) · Genome Research · doi:10.1101/gr.204834.116 · Cited by 146
“6B; Maijgren et al. 2004; Bae et al. 2014).”
Genomic Perspectives of Transcriptional Regulation in Forebrain Development
Nord, A. S., Pattabiraman, K., Visel, A., & Rubenstein, J. L. R. (2015) · Neuron · doi:10.1016/j.neuron.2014.11.011 · Cited by 152
“In a recent example of a large effect noncoding variant with severe phenotypic consequences in the brain, a short deletion in regulatory sequence was identified in subjects exhibiting gyral abnormalities (Bae et al., 2014).”
Rash, B. G., Duque, A., Morozov, Y. M., Arellano, J. I., Micali, N., & Rakic, P. (2019) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1822169116 · Cited by 156
“, lissencephaly and polymicrogyria (12, 13).”
Giera, S., Deng, Y., Luo, R., Ackerman, S. D., Mogha, A., Monk, K. R., Ying, Y., Jeong, S., Makinodan, M., Bialas, A. R., et al. (2015) · Nature Communications · doi:10.1038/ncomms7121 · Cited by 139
“A recent study shows that GPR56 regulates neural stem cell proliferation 21 , but its role in oligodendrocyte development remains unknown.”
InfluentialSelf-citationComprehensive comparative analysis of 5′-end RNA-sequencing methods
Adiconis, X., Haber, A. L., Simmons, S., Levy‐Moonshine, A., Ji, Z., Busby, M., Shi, X., Jacques, J., Lancaster, M. A., Pan, J. Q., et al. (2018) · Nature Methods · doi:10.1038/s41592-018-0014-2 · Cited by 121
“…TSS, which has been shown to be the highest expressed TSS in fetal human brain and required for normal human embryonic cerebral cortical development 38 , was used more frequently in the fetal frontal lobe, in vitro neurons, and brain organoids, but not in the adult frontal lobe, in which T3 was…”
Genetic Changes Shaping the Human Brain
Bae, B.-I., Jayaraman, D., & Walsh, C. A. (2015) · Developmental Cell · doi:10.1016/j.devcel.2015.01.035 · Cited by 135
Self-citationThe Adhesion G Protein-Coupled Receptor GPR56/ADGRG1 Is an Inhibitory Receptor on Human NK Cells
Chang, G.-W., Hsiao, C., Peng, Y.-M., Braga, F. A. V., Kragten, N. A. M., Remmerswaal, E. B. M., van de Garde, M. D. B., Straussberg, R., König, G. M., Kostenis, E., et al. (2016) · Cell Reports · doi:10.1016/j.celrep.2016.04.053 · Cited by 122
“Studies in other cell types have implicated roles of GPR56 in the generation and maintenance of the hematopoietic stem cell pool, cortical development, male fertility, muscle hypertrophy, and melanoma tumor growth and progression (Ackerman et al., 2015; Bae et al., 2014; Chen et al., 2010; Giera et al., 2015; Piao et…”
BackgroundA restricted period for formation of outer subventricular zone defined by Cdh1 and Trnp1 levels
Martínez‐Martínez, M. Á., Romero, C. D. J., Fernández, V., Cárdenas, A., Götz, M., & Borrell, V. (2016) · Nature Communications · doi:10.1038/ncomms11812 · Cited by 133
Structural Basis for Regulation of GPR56/ADGRG1 by Its Alternatively Spliced Extracellular Domains
Salzman, G., Ackerman, S. D., Ding, C., Koide, A., Leon, K., Luo, R., Stoveken, H. M., Fernandez, C., Tall, G. G., Piao, X., et al. (2016) · Neuron · doi:10.1016/j.neuron.2016.08.022 · Cited by 127
Self-citationGenetics and mechanisms leading to human cortical malformations
Romero, D. M., Bahi‐Buisson, N., & Francis, F. (2017) · Seminars in Cell and Developmental Biology · doi:10.1016/j.semcdb.2017.09.031 · Cited by 136
Mapping the molecular and cellular complexity of cortical malformations
Klingler, E., Francis, F., Jabaudon, D., & Cappello, S. (2021) · Science · doi:10.1126/science.aba4517 · Cited by 131
“Sources of complexity in cortical malformations Cortical malformations have a broad range of clinical expression, including seizures, intellectual disabilities, autistic features, failure to reach developmental milestones, and nonneurological comorbidities (e.g., dysmorphic Klingler et al., Science 371, eaba4517 (2021…”
BackgroundInfluentialSchöneberg, T., & Liebscher, I. (2020) · Pharmacological Reviews · doi:10.1124/pharmrev.120.000011 · Cited by 131
“An interesting case of a 15-bp deletion in the regulatory region of GPR56 (ADGRG1) led to local disruption of GPR56 expression, resulting in restricted polymicrogyria limited to the cortex surrounding the Sylvian fissure (Bae et al., 2014).”
BackgroundNamba, T., & Huttner, W. Β. (2016) · Wiley Interdisciplinary Reviews Developmental Biology · doi:10.1002/wdev.256 · Cited by 120
“Changes in noncoding genomic regions are also important for brain evolution.(109,110) A recent study has identified a novel human-accelerated regulatory enhancer called HARE5.”
BackgroundAdhesion G protein-coupled receptors in nervous system development and disease
Langenhan, T., Piao, X., & Monk, K. R. (2016) · Nature reviews. Neuroscience · doi:10.1038/nrn.2016.86 · Cited by 119
Self-citationExome sequencing and whole genome sequencing for the detection of copy number variation
Hehir‐Kwa, J. Y., Pfundt, R., & Veltman, J. A. (2015) · Expert Review of Molecular Diagnostics · doi:10.1586/14737159.2015.1053467 · Cited by 117
“4 kb de novo deletion 283 kb 5¢ of FOXL2, which is known to be the disease-causing gene of BPES [74] as well as a 15 bp deletion disrupting a cis-regulatory element of GPR56 known to be involved in cortical development [75].”
BackgroundCharacterization of the human RFX transcription factor family by regulatory and target gene analysis
Sugiaman‐Trapman, D., Vitezic, M., Jouhilahti, E., Mathelier, A., Lauter, G., Misra, S., Daub, C. O., Kere, J., & Swoboda, P. (2018) · BMC Genomics · doi:10.1186/s12864-018-4564-6 · Cited by 102
“…example, one might expect male sterility to be associated with mutations in testis specific RFX1 – 4 gene isoforms, or with dys-regulation of testis specific RFX target genes (e.g. GPR56 [86], ALMS1 [87] and RFX1 ), or with the role upstream RFX regulators (e.g. ESR1 [88, 89]) play in ciliogenesis.”
BackgroundNeuronal migration disorders: Focus on the cytoskeleton and epilepsy
Stouffer, M. A., Golden, J. A., & Francis, F. (2015) · Neurobiology of Disease · doi:10.1016/j.nbd.2015.08.003 · Cited by 123
Human-specific genomic signatures of neocortical expansion
Florio, M., Borrell, V., & Huttner, W. Β. (2016) · Current Opinion in Neurobiology · doi:10.1016/j.conb.2016.11.004 · Cited by 100
Mapping the Global Chromatin Connectivity Network for Sox2 Function in Neural Stem Cell Maintenance
Bertolini, J. A., Favaro, R., Zhu, Y., Pagin, M., Ngan, C. Y., Wong, C., Tjong, H., Vermunt, M. W., Martynoga, B., Barone, C., et al. (2019) · Cell stem cell · doi:10.1016/j.stem.2019.02.004 · Cited by 96
Sulcal pits and patterns in developing human brains
Im, K., & Grant, P. E. (2018) · NeuroImage · doi:10.1016/j.neuroimage.2018.03.057 · Cited by 99
“It also clearly defined the cortical areas affected by a noncoding mutation in the GPR56 gene in polymicrogyria (Bae et al., 2014).”
BackgroundSelf-citationEnabling research with human embryonic and fetal tissue resources
Gerrelli, D., Lisgo, S., Copp, A. J., & Lindsay, S. (2015) · Development · doi:10.1242/dev.122820 · Cited by 89
“Advances in high-throughput sequencing technologies have opened the door to large-scale cross-species comparisons that are highlighting differences in transcript sequence, alternative splicing, expression level and regulation between humans and model organisms (Cotney et al., 2013; Bae et al., 2014).”
Self-citationCoevolution of radial glial cells and the cerebral cortex
Romero, C. D. J., & Borrell, V. (2015) · Glia · doi:10.1002/glia.22827 · Cited by 102
“…there exist species-specific variations in the GPR56 regulatory regions that drive gene expression in distinct patterns in the developing neocortex, strongly suggesting this may be a mechanism contributing to define the species-specific pattern of cortical folding across mammals (Bae et al., 2014).”
BackgroundShaping the brain: The emergence of cortical structure and folding
Akula, S. K., Exposito-Alonso, D., & Walsh, C. A. (2023) · Developmental Cell · doi:10.1016/j.devcel.2023.11.004 · Cited by 104
Self-citationThe atoms of neural computation
Marcus, G., Marblestone, A. H., & Dean, T. (2014) · Science · doi:10.1126/science.1261661 · Cited by 85
“Seemingly slight molecular differences, such as the alternative splicing of GPR56, may have profound consequences in human development and evolution, for example by selectively altering stem cell proliferation and gyral patterning in the vicinity of Broca’s area (Bae et al., 2014).”
BackgroundBrain Transcriptome Databases: A User's Guide
Keil, J. M., Qalieh, A., & Kwan, K. Y. (2018) · Journal of Neuroscience · doi:10.1523/jneurosci.1930-17.2018 · Cited by 79
Perenthaler, E., Yousefi, S., Niggl, E., & Barakat, T. S. (2019) · Frontiers in Cellular Neuroscience · doi:10.3389/fncel.2019.00352 · Cited by 75
Cellular and Molecular Mechanisms Linking Human Cortical Development and Evolution
Libé-Philippot, B., & Vanderhaeghen, P. (2021) · Annual Review of Genetics · doi:10.1146/annurev-genet-071719-020705 · Cited by 78
GPR56/ADGRG1 regulates development and maintenance of peripheral myelin
Ackerman, S. D., Luo, R., Poitelon, Y., Mogha, A., Harty, B. L., D’Rozario, M., Sanchez, N., Lakkaraju, A. K., Gamble, P. G., Li, J., et al. (2018) · The Journal of Experimental Medicine · doi:10.1084/jem.20161714 · Cited by 68
“, 2016), and GPR56 is a known regulator of cell division (Wu et al., 2013; Bae et al., 2014; Ackerman et al., 2015; Giera et al., 2015); thus, we first tested if Gpr56 mutant SCs were less proliferative than WT.”
BackgroundSelf-citationAdhesion G Protein-Coupled Receptors as Drug Targets for Neurological Diseases
Folts, C. J., Giera, S., Li, T., & Piao, X. (2019) · Trends in Pharmacological Sciences · doi:10.1016/j.tips.2019.02.003 · Cited by 70
Self-citationOrphan G Protein Coupled Receptors in Affective Disorders
Watkins, L. R., & Orlandi, C. (2020) · Genes · doi:10.3390/genes11060694 · Cited by 71
“Overall, ADGRG1 was concluded to be a potential antidepressant target since it is involved in various biological functions relevant to the pathophysiology of depression: neurogenesis, oligodendrocyte development, progenitor cell migration in brain, and myelin repair [109,110,119].”
BackgroundIncreasing the sensitivity of clinical exome sequencing through improved filtration strategy
Shamseldin, H. E., Maddirevula, S., Faqeih, E., Ibrahim, N., Hashem, M., Shaheen, R., & Alkuraya, F. S. (2016) · Genetics in Medicine · doi:10.1038/gim.2016.155 · Cited by 72
Adhesion G protein–coupled receptors—Candidate metabotropic mechanosensors and novel drug targets
Langenhan, T. (2019) · Basic & Clinical Pharmacology & Toxicology · doi:10.1111/bcpt.13223 · Cited by 65
GPR56/ADGRG1 Inhibits Mesenchymal Differentiation and Radioresistance in Glioblastoma
Moreno, M., Pedrosa, L., Paré, L., Pineda, E., Bejarano, L., Martínez, J., Balasubramaniyan, V., Ezhilarasan, R., Kallarackal, N., Kim, S.-H., et al. (2017) · Cell Reports · doi:10.1016/j.celrep.2017.10.083 · Cited by 74
“GPR56 is an adhesion GPCR with a prominent role in NSC and OPC proliferation and differentiation (Ackerman et al., 2015; Bae et al., 2014; Giera et al., 2015) and is highly expressed in PN and CL GBMs (Figure 1A).”
BackgroundSelf-citationZhu, B., Luo, R., Jin, P., Li, T., Oak, H. C., Giera, S., Monk, K. R., Lak, P., Shoichet, B. K., & Piao, X. (2019) · Journal of Biological Chemistry · doi:10.1074/jbc.ra119.008234 · Cited by 61
Self-citationLoss of PCLO function underlies pontocerebellar hypoplasia type III
Ahmed, M. Y., Chioza, B. A., Rajab, A., Schmitz‐Abe, K., Al‐Khayat, A., Al-Turki, S., Baple, E. L., Patton, M. A., Al‐Memar, A., Hurles, M. E., et al. (2015) · Neurology · doi:10.1212/wnl.0000000000001523 · Cited by 66
“Messenger RNA sequencing data from human fetal (9 weeks postconception) cerebral cortex was obtained as previously described.(7)”
MethodSelf-citationGPR56/ADGRG1 is associated with response to antidepressant treatment
Belzeaux-R, R., Gorgievski, V., Fiori, L. M., López, J. P., Grenier, J., Lin, R., Nagy, C., Ibrahim, E. C., Gascon, E., Courtet, P., et al. (2020) · Nature Communications · doi:10.1038/s41467-020-15423-5 · Cited by 70
A Comprehensive Mutagenesis Screen of the Adhesion GPCR Latrophilin-1/ADGRL1
Nazarko, O. V., Kibrom, A., Winkler, J., Leon, K., Stoveken, H. M., Salzman, G., Merdas, K., Lu, Y., Narkhede, P., Tall, G. G., et al. (2018) · iScience · doi:10.1016/j.isci.2018.04.019 · Cited by 57
Dunn, H. A., Orlandi, C., & Martemyanov, K. A. (2019) · Pharmacological Reviews · doi:10.1124/pr.119.018044 · Cited by 66
“…presence of four alternative splicing isoforms in the ADGRG1 ectodomain, two of which include large deletions, further implicates a multilayered regulatory function that may differentiate ADGRG1 activation mechanisms beyond collagen III – modulated signaling via the PLL domain (Bae et al., 2014).”
BackgroundFerent, J., Zaidi, D., & Francis, F. (2020) · Frontiers in Cell and Developmental Biology · doi:10.3389/fcell.2020.578341 · Cited by 62
The role of GPR56/ADGRG1 in health and disease
Singh, A. K., & Lin, H. (2021) · Biomedical Journal · doi:10.1016/j.bj.2021.04.012 · Cited by 60
Gpr116 Receptor Regulates Distinctive Functions in Pneumocytes and Vascular Endothelium
Niaudet, C., Hofmann, J. J., Mäe, M. A., Jung, B., Gaengel, K., Vanlandewijck, M., Ekvärn, E., Salvado, M. D., Mehlem, A., Sayegh, S. A., et al. (2015) · PLoS ONE · doi:10.1371/journal.pone.0137949 · Cited by 57
“Mutations in the human gene, GPR56, cause a malformation of the cerebral cortex known as bilateral frontoparietal polymicrogyria [13].”
BackgroundZhang, S., Chatterjee, T., Godoy, C., Wu, L., Liu, Q. J., & Carmon, K. S. (2019) · Molecular Cancer Research · doi:10.1158/1541-7786.mcr-19-0436 · Cited by 53
Epilepsy and malformations of cortical development
Kuzniecky, R. (2015) · Current Opinion in Neurology · doi:10.1097/wco.0000000000000175 · Cited by 49
Morphological and functional aspects of progenitors perturbed in cortical malformations
Bizzotto, S., & Francis, F. (2015) · Frontiers in Cellular Neuroscience · doi:10.3389/fncel.2015.00030 · Cited by 62
“The Frontiers in Cellular Neuroscience www.frontiersin.org February 2015 | Volume 9 | Article 30 | 3 Table 2 | Specific genes mouse mutants.”
BackgroundInfluentialUnderstanding cadherin EGF LAG seven‐pass G‐type receptors
Wang, X., Zhang, D., Xu, Z., Ma, M., Wang, W., Li, L., Han, X., Huo, Y., Yu, X., & Sun, J. (2014) · Journal of Neurochemistry · doi:10.1111/jnc.12955 · Cited by 49
Genetic basis of functional variability in adhesion G protein-coupled receptors
Knierim, A. B., Röthe, J., Çakır, M. V., Lede, V., Wilde, C., Liebscher, I., Thor, D., & Schöneberg, T. (2019) · Scientific Reports · doi:10.1038/s41598-019-46265-x · Cited by 49
RTTN Mutations Cause Primary Microcephaly and Primordial Dwarfism in Humans
Shamseldin, H. E., Alazami, A. M., Manning, M. A., Hashem, A., Caluseiu, O., Tabarki, B. M., Esplin, E. D., Schelley, S. L., Innes, A. M., Parboosingh, J. S., et al. (2015) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2015.10.012 · Cited by 50
Jin, G., Sakitani, K., Wang, H., Jin, Y., Dubeykovskiy, A. N., Worthley, D. L., Tailor, Y. H., & Wang, T. C. (2017) · Oncotarget · doi:10.18632/oncotarget.16506 · Cited by 48
Neuronal migration and disorders – an update
Francis, F., & Cappello, S. (2020) · Current Opinion in Neurobiology · doi:10.1016/j.conb.2020.10.002 · Cited by 48
Modeling autism in non‐human primates: Opportunities and challenges
Zhao, H., Jiang, Y., & Zhang, Y. (2018) · Autism Research · doi:10.1002/aur.1945 · Cited by 53
“GPR56 regulates lateral cortical development in gyrencephalic mammals [Bae et al., 2014].”
Bilemjian, V., Vlaming, M. R., Freile, J. Á., Huls, G. A., de Bruyn, M., & Bremer, E. (2022) · Cancers · doi:10.3390/cancers14133164 · Cited by 35
“GPR56 is an adhesion G-protein-coupled receptor with an array of functions, ranging from cortical development [20,21], anti-depressant response [22], hematopoietic development [23], to tumor cell adhesion and progression [24–26].”
BackgroundVitobello, A., Mazel, B., Lelianova, V. G., Zangrandi, A., Petitto, E., Suckling, J., Salpietro, V., Meyer, R., Elbracht, M., Kurth, I., et al. (2022) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2022.06.011 · Cited by 46
The Role of Transposable Elements of the Human Genome in Neuronal Function and Pathology
Chesnokova, E., Beletskiy, A., & Kolosov, P. M. (2022) · International Journal of Molecular Sciences · doi:10.3390/ijms23105847 · Cited by 51
A Primate-Specific Isoform of PLEKHG6 Regulates Neurogenesis and Neuronal Migration
O’Neill, A. C., Kyrousi, C., Klaus, J., Leventer, R. J., Kirk, E. P., Fry, A. E., Pilz, D. T., Morgan, T., Jenkins, Z. A., Drukker, M., et al. (2018) · Cell Reports · doi:10.1016/j.celrep.2018.11.029 · Cited by 48
“A consequence of these rapid, expansive cortical evolutionary events, particularly in humans, could be a trade-off that has rendered the brain susceptible to certain neurodevelopmental and neuropsychiatric conditions (Bae et al., 2014; Doan et al., 2016; Bershteyn et al., 2017).”
BackgroundNucleocytoplasmic transport of the RNA-binding protein CELF2 regulates neural stem cell fates
MacPherson, M. J., Erickson, S. L., Kopp, D., Wen, P., Aghanoori, M., Kedia, S., Burns, K. M. L., Vitobello, A., Mau‐Them, F. T., Thomas, Q., et al. (2021) · Cell Reports · doi:10.1016/j.celrep.2021.109226 · Cited by 45
Im, K., Guimarães, A. M. L., Kim, Y., Cottrill, E. J., Gagoski, B. A., Rollins, C. K., Ortinau, C. M., Yang, E., & Grant, P. E. (2017) · American Journal of Neuroradiology · doi:10.3174/ajnr.a5217 · Cited by 42
Self-citationTang, J., Fan, Y., Li, H., Xiang, Q., Zhang, D., Li, Z., He, Y., Liao, Y., Wang, Y., He, F., et al. (2017) · Journal of genetics and genomics/Journal of Genetics and Genomics · doi:10.1016/j.jgg.2017.05.005 · Cited by 44
“Mutations in the nongenic (Bae et al., 2014), noncoding RNA (Kwon et al., 2013), and large CNV regions (Liu et al., 2002; Xu et al., 2008; CNV and Schizophrenia Working Groups of the Psychiatric Genomics Consortium, 2017) may play important roles in the development of neuropsychiatric disorders…”
BackgroundZhang, Y., Si, Y., Ma, N., & Mei, J. (2015) · Biochemical and Biophysical Research Communications · doi:10.1016/j.bbrc.2015.06.139 · Cited by 43
Characterizing sensitivity and coverage of clinical WGS as a diagnostic test for genetic disorders
Sun, Y., Liu, F., Fan, C., Wang, Y., Song, L., Fang, Z., Han, R., Wang, Z., Wang, X., Yang, Z., et al. (2021) · BMC Medical Genomics · doi:10.1186/s12920-021-00948-5 · Cited by 42
“Several studies have demonstrated the 81 advantages of WGS for variant detection [11-14].”
Lin, H., Ma, C., Zhuang, X., Liu, S., Liu, D., Zhang, M., Lu, Y., Zhou, G., Zhang, C., Wang, T., et al. (2024) · Cell Metabolism · doi:10.1016/j.cmet.2024.09.007 · Cited by 47
Silver, D. L. (2015) · BioEssays · doi:10.1002/bies.201500108 · Cited by 41
“[40] demonstrated that a 15 nt deletion within the 50 promoter of human GPR56, a G protein coupled receptor, causes polymicrogyria in the cortical area controlling language.”
BackgroundA molecular model for neurodevelopmental disorders
Gigek, C. O., Chen, E., Ota, V., Maussion, G., Peng, H., Vaillancourt, K., Diallo, A., López, J. P., Crapper, L., Vasuta, C., et al. (2015) · Translational Psychiatry · doi:10.1038/tp.2015.56 · Cited by 38
Disorganized Patterns of Sulcal Position in Fetal Brains with Agenesis of Corpus Callosum
Tarui, T., Madan, N., Farhat, N., Kitano, R., Tanritanir, A. C., Graham, G., Gagoski, B. A., Craig, A. K., Rollins, C. K., Ortinau, C. M., et al. (2017) · Cerebral Cortex · doi:10.1093/cercor/bhx191 · Cited by 42
Self-citationShimada, I. S., Somatilaka, B. N., Hwang, S., Anderson, A. G., Shelton, J. M., Rajaram, V., Konopka, G., & Mukhopadhyay, S. (2019) · Developmental Biology · doi:10.1016/j.ydbio.2019.03.011 · Cited by 36
“Rather, increased folding of the cortex might be related to IPC populations, as seen in mice with transgenic overexpression of human Gpr56 that regulates gyral patterning (Bae et al., 2014).”
BackgroundCharting the protomap of the human telencephalon
Clowry, G. J., Alzu’bi, A., Harkin, L. F., Sarma, S., Kerwin, J. M., & Lindsay, S. (2017) · Seminars in Cell and Developmental Biology · doi:10.1016/j.semcdb.2017.08.033 · Cited by 33
Setting the clock of neural progenitor cells during mammalian corticogenesis
Koo, B., Lee, K., Ming, G., Yoon, K., & Song, H. (2022) · Seminars in Cell and Developmental Biology · doi:10.1016/j.semcdb.2022.05.013 · Cited by 36
“For example, human G protein-coupled receptor 56 ( GPR56 ) has 15 promoters that enhance NPC proliferation in the human cortex [113].”
BackgroundTammimies, K., Bieder, A., Lauter, G., Sugiaman‐Trapman, D., Torchet, R., Hokkanen, M., Burghoorn, J., Ċastrén, E., Kere, J., Tapia‐Páez, I., et al. (2016) · The FASEB Journal · doi:10.1096/fj.201500124rr · Cited by 33
Chatterjee, T., Zhang, S., Posey, T. A., Jacob, J., Wu, L., Yu, W., Francisco, L. E., Liu, Q. J., & Carmon, K. S. (2021) · Journal of Biological Chemistry · doi:10.1016/j.jbc.2021.100261 · Cited by 28
Metabolic regulation and glucose sensitivity of cortical radial glial cells
Rash, B. G., Micali, N., Huttner, A. J., Morozov, Y. M., Horváth, T. L., & RAKIC, P. T. (2018) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1808066115 · Cited by 37
“Likewise, neuronal displacement involving failed or improper migration can be caused by defects in RGC function triggered by a variety of genetic mutations and can lead to neurodevelopmental disorders of the cerebral cortex with consequent lifelong cognitive impairments (12, 13).”
BackgroundKordon, S. P., Dutka, P., Adamska, J. M., Bandekar, S. J., Leon, K., Erramilli, S. K., Adams, B., Li, J., Kossiakoff, A. A., & Araç, D. (2023) · Nature Communications · doi:10.1038/s41467-023-36312-7 · Cited by 31
Matsunaga, E., Nambu, S., Oka, M., & Iriki, A. (2014) · Neuroscience · doi:10.1016/j.neuroscience.2014.10.032 · Cited by 29
Maffioli, E., Schulte, C., Nonnis, S., Scalvini, F. G., Piazzoni, C., Lenardi, C., Negri, A. L., Milani, P., & Tedeschi, G. (2018) · Frontiers in Cellular Neuroscience · doi:10.3389/fncel.2017.00417 · Cited by 28
“…Um and Ko, 2013; Sarhan et al., 2016), Gpr56 (Piao et al., 2004; Iguchi et al., 2008; Gong et al., 2010; Shen et al., 2012; Jeong et al., 2013; Bae et al., 2014), ROCK (Yamaguchi et al., 2001; Loudon et al., 2006; Lee et al., 2010; Schulte et al., 2010), GFRA1 (Cao et al., 2008; Marks et al.,…”
Role of ADGRG1/GPR56 in Tumor Progression
Ng, K., Chen, T., Stacey, M. A., & Lin, H. (2021) · Cells · doi:10.3390/cells10123352 · Cited by 33
“protein isoforms remain to be fully investigated [27,28].”
BackgroundNew functions and signaling mechanisms for the class of adhesion G protein–coupled receptors
Liebscher, I., Ackley, B. D., Araç, D., Ariestanti, D. M., Aust, G., Bae, B.-I., Bista, B. R., Bridges, J. P., Duman, J. G., Engel, F. B., et al. (2014) · Annals of the New York Academy of Sciences · doi:10.1111/nyas.12580 · Cited by 30
Self-citationCatalogue of inherited disorders found among the Irish Traveller population
Lynch, S. A., Crushell, E., Lambert, D. M., et al. (2018) · Journal of Medical Genetics · doi:10.1136/jmedgenet-2017-104974 · Cited by 33
Enhancing our brains: Genomic mechanisms underlying cortical evolution
Mitchell, C., & Silver, D. L. (2017) · Seminars in Cell and Developmental Biology · doi:10.1016/j.semcdb.2017.08.045 · Cited by 28
The Activation and Signaling Mechanisms of GPR56/ADGRG1 in Melanoma Cell
Huang, K., & Lin, H. (2018) · Frontiers in Oncology · doi:10.3389/fonc.2018.00304 · Cited by 29
“More recently, it was further shown that regional cerebral cortical patterning was tightly regulated by the GPR56 expression levels controlled in part by a specific cis-regulatory non-exonic element and generation of multiple alternative splicing forms (30).”
BackgroundRole of intracortical neuropil growth in the gyrification of the primate cerebral cortex
Rash, B. G., Arellano, J. I., Duque, A., & RAKIC, P. T. (2022) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.2210967120 · Cited by 31
“The protomap and radial unit model of cortical development is thus supported by the most advanced genetic methods (57) and can be extended to the principle of gyrification via these maturational characteristics.”
Kawase, S., Kuwako, K.-I., Imai, T., et al. (2014) · Stem Cells and Development · doi:10.1089/scd.2014.0219 · Cited by 32
Self-citationCancer Cell Mechanics: Adhesion G Protein-coupled Receptors in Action?
Scholz, N. (2018) · Frontiers in Oncology · doi:10.3389/fonc.2018.00059 · Cited by 32
“Thus, attachment and size-dependent tensility of NTFs may be critical for mechanosensing through aGPCRs.”
BackgroundInfluential
Metadata
- Authors
- Bae, B.-I., Tietjen, I., Atabay, K. D., Evrony, G. D., Johnson, M. B., Asare, E., Wang, P. P., Murayama, A. Y., Im, K., Lisgo, S. N., Overman, L., Šestan, N., Chang, B. S., Barkovich, A. J., Grant, P. E., Topçu, M., Politsky, J., Okano, H., Piao, X., & Walsh, C. A.
- Affiliations
- Broad Institute (US)
- Keio University (JP)
- Boston Children's Hospital (US)
- Centre for Life (GB)
- Yale University (US)
- Beth Israel Deaconess Medical Center (US)
- University of California, San Francisco (US)
- Hacettepe University (TR)
- Augusta University (US)
- Corresponding author
- Bae, Byoung-Il
- Tietjen, Ian
- Politsky, Jeffrey
- Walsh, Christopher A.
- ORCID
- Venue
- Science
- Published
- 2014-02-14
- Volume
- 343
- Issue
- 6172
- Pages
- 764-768
- ISSN
- 0036-8075 (ISSN-L)
- 1095-9203
- PMC
- PMC4480613
- OpenAlex
- W1979208523
- Semantic Scholar
- ab78a1227d69c6090e8a819cd5935b59848b1f92
- Cited by
- 229
- References
- 40
- Citations by year
- 2026: 6 · 2025: 10 · 2024: 10 · 2023: 8 · 2022: 11 · 2021: 18 · 2020: 44 · 2019: 21 · 2018: 20 · 2017: 18 · 2016: 21 · 2015: 26 · 2014: 14
- FWCI
- 9.15
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Locations
- Science (publishedVersion)
- PubMed (publishedVersion)
- Europe PMC (PubMed Central) (acceptedVersion)
- PubMed Central (acceptedVersion)
- eScholarship (California Digital Library) (submittedVersion)
- Hacettepe University Institutional Repository (hacettepe.edu.tr) (submittedVersion, other-oa)
- Funders
- Howard Hughes Medical Institute
- Wellcome Trust (GR082557)
- Medical Research Council (MC_PC_15004)
- National Institute of Mental Health (U01MH081896)
- National Institute of Neurological Disorders and Stroke (R01NS035129)
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (HHSN275200900011C, P30HD018655, N01-HD-90011)
- Topics
- Life Sciences › Neuroscience › Developmental Neuroscience › Neurogenesis and neuroplasticity mechanisms
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Developmental Biology and Gene Regulation
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Keywords
- GPR56, alternative splicing, alternative promoters, cortical development, Broca's area, Sylvian fissure, RFX transcription factors, G protein-coupled receptors, cortical progenitor cells, stem cell proliferation, neocortex evolution, laterality
- MeSH terms
- Animals, Base Sequence, Cats, Cerebral Cortex, Biological Evolution, Frontal Lobe, Haplotypes, Humans, Molecular Sequence Data, Pedigree, Promoter Regions, Genetic, Genetic Variation, Sequence Deletion, Alternative Splicing, Codon, Nonsense, Body Patterning, Receptors, G-Protein-Coupled, Cell Proliferation, Mice, Neural Stem Cells
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Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
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