Mutations in STRA6 Cause a Broad Spectrum of Malformations Including Anophthalmia, Congenital Heart Defects, Diaphragmatic Hernia, Alveolar Capillary Dysplasia, Lung Hypoplasia, and Mental Retardation
Open accessAbstract
We observed two unrelated consanguineous families with malformation syndromes sharing anophthalmia and distinct eyebrows as common signs, but differing for alveolar capillary dysplasia or complex congenital heart defect in one and diaphragmatic hernia in the other family. Homozygosity mapping revealed linkage to a common locus on chromosome 15, and pathogenic homozygous mutations were identified in STRA6, a member of a large group of "stimulated by retinoic acid" genes encoding novel transmembrane proteins, transcription factors, and secreted signaling molecules or proteins of largely unknown function. Subsequently, homozygous STRA6 mutations were also demonstrated in 3 of 13 patients chosen on the basis of significant phenotypic overlap to the original cases. While a homozygous deletion generating a premature stop codon (p.G50AfsX22) led to absence of the immunoreactive protein in patient's fibroblast culture, structural analysis of three missense mutations (P90L, P293L, and T321P) suggested significant effects on the geometry of the loops connecting the transmembrane helices of STRA6. Two further variations in the C-terminus (T644M and R655C) alter specific functional sites, an SH2-binding motif and a phosphorylation site, respectively. STRA6 mutations thus define a pleiotropic malformation syndrome representing the first human phenotype associated with mutations in a gene from the "STRA" group.
Integrity signals
Registry
Cites
Statistics
Claims the paper makes
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?
Pathogenic variants in STRA6 are associated with Matthew-Wood syndrome, which presents with anophthalmia.
“STRA6 gene pathogenic variants are associated with Matthew-Wood syndrome, which is in eyes presented with anophthalmia [47,181,183,184,185,186].”
From The Role of Vitamin A in Retinal Diseases (2022) · cites this paper as [185]
STRA6 mutations during development can lead to anophthalmia, microphthalmia, and other symptoms that overlap with phenotypes associated with Matthew-Wood syndrome.
“STRA6 mutations during development can lead to anophthalmia, microphthalmia, and other symptoms that overlap with phenotypes associated with Matthew-Wood syndrome [33].”
From Vitamin A Transporters in Visual Function: A Mini Review on Membrane Receptors for Dietary Vitamin A Uptake, Storage, and Transport to the Eye (2021) · cites this paper as [33]
Cites
Krogh, A., Larsson, B., von Heijne, G., & Sonnhammer, E. L. L. (2001) · Journal of Molecular Biology · doi:10.1006/jmbi.2000.4315 · Cited by 12,654 · see citing works
Merlin—rapid analysis of dense genetic maps using sparse gene flow trees
Abecasis, G. R., Cherny, S. S., Cookson, W., & Cardon, L. R. (2001) · Nature Genetics · doi:10.1038/ng786 · Cited by 3,323 · see citing works
PedCheck: A Program for Identification of Genotype Incompatibilities in Linkage Analysis
O'Connell, J. R., & Weeks, D. E. (1998) · The American Journal of Human Genetics · doi:10.1086/301904 · Cited by 2,063 · see citing works
NPS@: Network Protein Sequence Analysis
Combet, C., Blanchet, C., Geourjon, C., & Deléage, G. (2000) · Trends in Biochemical Sciences · doi:10.1016/s0968-0004(99)01540-6 · Cited by 1,761 · see citing works
Overview of retinoid metabolism and function
Blomhoff, R., & Blomhoff, H. K. (2006) · Journal of Neurobiology · doi:10.1002/neu.20242 · Cited by 948 · see citing works
TopPred II: an improved software for membrane protein structure predictions
Claros, M. G., & von HEIJNE, G. (1994) · Computer applications in the biosciences · doi:10.1093/bioinformatics/10.6.685 · Cited by 939 · see citing works
A Membrane Receptor for Retinol Binding Protein Mediates Cellular Uptake of Vitamin A
Kawaguchi, R., Yu, J., Honda, J., Hu, J., Whitelegge, J., Ping, P., Wiita, P., Bok, D., & Sun, H. (2007) · Science · doi:10.1126/science.1136244 · Cited by 836 · see citing works
Allegro, a new computer program for multipoint linkage analysis
Gudbjartsson, D. F., Jónasson, K., Frigge, M. L., & Kong, A. (2000) · Nature Genetics · doi:10.1038/75514 · Cited by 785 · see citing works
STAT proteins: From normal control of cellular events to tumorigenesis
Calò, V., Migliavacca, M., Bazan, V., Macaluso, M., Buscemi, M., Gebbia, N., & Russo, A. D. (2003) · Journal of Cellular Physiology · doi:10.1002/jcp.10364 · Cited by 606 · see citing works
ELM server: a new resource for investigating short functional sites in modular eukaryotic proteins
Puntervoll, P. (2003) · Nucleic Acids Research · doi:10.1093/nar/gkg545 · Cited by 597 · see citing works
Congenital diaphragmatic hernia. Epidemiology and outcome.
Langham, M. R., Kays, D. W., Ledbetter, D. J., Frentzen, B. H., Sanford, L. L., & RICHARDS, D. S. (1996) · PubMed · Cited by 584 · see citing works
Mutations in SOX2 cause anophthalmia
Fantes, J. A., Ragge, N., Lynch, S. A., McGill, N. I., Collin, J. R. O., Howard‐Peebles, P. N., Hayward, C., Vivian, A. J., Williamson, K. A., van Heyningen, V., et al. (2003) · Nature Genetics · doi:10.1038/ng1120 · Cited by 538 · see citing works
Self-citationGRR: graphical representation of relationship errors
Abecasis, G. R., Cherny, S. S., Cookson, W., & Cardon, L. R. (2001) · Bioinformatics · doi:10.1093/bioinformatics/17.8.742 · Cited by 383 · see citing works
Physiological Substrates of cAMP-Dependent Protein Kinase
Shabb, J. B. (2001) · Chemical Reviews · doi:10.1021/cr000236l · Cited by 373 · see citing works
Congenital Diaphragmatic Hernia
Langham, M. R., Kays, D. W., Ledbetter, D. J., Frentzen, B. H., Sanford, L. L., & RICHARDS, D. S. (1996) · Clinics in Perinatology · doi:10.1016/s0095-5108(18)30201-x · Cited by 353 · see citing works
Human microphthalmia associated with mutations in the retinal homeobox gene CHX10
Perçin, E. F., La, P., Jj, Y., Arıcı, M. K., Horsford, D. J., Rutherford, A. D., Bapat, B. V., Dw, C., Am, D., Vi, K., et al. (2000) · Nature Genetics · doi:10.1038/78071 · Cited by 288 · see citing works
HaploPainter: a tool for drawing pedigrees with complex haplotypes
Thiele, H., & Nürnberg, P. (2004) · Computer applications in the biosciences · doi:10.1093/bioinformatics/bth488 · Cited by 276 · see citing works
Self-citationMorrison, D., FitzPatrick, D. R., Hanson, I. M., Williamson, K. A., van Heyningen, V., Fleck, B., Jones, I., Chalmers, J., & Campbell, H. (2002) · Journal of Medical Genetics · doi:10.1136/jmg.39.1.16 · Cited by 274 · see citing works
Self-citationIL-3 signaling and the role of Src kinases, JAKs and STATs: a covert liaison unveiled
Reddy, E. P., Korapati, A. L., Chaturvedi, P., & Rane, S. G. (2000) · Oncogene · doi:10.1038/sj.onc.1203594 · Cited by 224 · see citing works
Fog2 Is Required for Normal Diaphragm and Lung Development in Mice and Humans
Ackerman, K. G., Herron, B. J., Vargas, S. O., Huang, H., Tevosian, S. G., Kochilas, L. K., Rao, C., Pober, B. R., Babiuk, R. P., Epstein, J. A., et al. (2005) · PLoS Genetics · doi:10.1371/journal.pgen.0010010 · Cited by 216 · see citing works
Bouillet, P., Sapin, V., Chazaud, C., Messaddeq, N., Décimo, D., Dollé, P., & Chambon, P. (1997) · Mechanisms of Development · doi:10.1016/s0925-4773(97)00039-7 · Cited by 209 · see citing works
Etiology of Congenital Diaphragmatic Hernia: The Retinoid Hypothesis
Greer, J. J., Babiuk, R. P., & Thébaud, B. (2003) · Pediatric Research · doi:10.1203/01.pdr.0000062660.12769.e6 · Cited by 185 · see citing works
ALOHOMORA: a tool for linkage analysis using 10K SNP array data
Rüschendorf, F., & Nürnberg, P. (2005) · Computer applications in the biosciences · doi:10.1093/bioinformatics/bti264 · Cited by 178 · see citing works
Self-citationTRANSCRIPTION FACTORS AND CONGENITAL HEART DEFECTS
Clark, K. L., Yutzey, K. E., & Benson, D. W. (2005) · Annual Review of Physiology · doi:10.1146/annurev.physiol.68.040104.113828 · Cited by 155 · see citing works
Klaassens, M., van Dooren, M., Eussen, H. J., Douben, H., den Dekker, A. T., Lee, C., Donahoe, P. K., Galjaard, R. J. H., Goemaere, N. N. T., de Krijger, R. R., et al. (2005) · The American Journal of Human Genetics · doi:10.1086/429842 · Cited by 142 · see citing works
Slavotinek, A. M., Moshrefi, A., Davis, R., Leeth, E. A., Schaeffer, G. B., Burchard, E. G., Shaw, G. M., James, B., Ptáček, L. J., & Pennacchio, L. A. (2006) · European Journal of Human Genetics · doi:10.1038/sj.ejhg.5201652 · Cited by 98 · see citing works
Self-citationCHX10 mutations cause non-syndromic microphthalmia/anophthalmia in Arab and Jewish kindreds
Bar‐Yosef, U., Abuelaish, I., Harel, T., Hendler, N., Ofir, R., & Birk, O. S. (2004) · Human Genetics · doi:10.1007/s00439-004-1154-2 · Cited by 85 · see citing works
Alveolar capillary dysplasia: a logical approach to a fatal disease
Michalsky, M. P., Arca, M. J., Groenman, F. A., Hammond, S., Tibboel, D., & Caniano, D. A. (2005) · Journal of Pediatric Surgery · doi:10.1016/j.jpedsurg.2005.03.067 · Cited by 78 · see citing works
Where to look for the genes related to diaphragmatic hernia?
Lurie, I. W. (2003) · PubMed · Cited by 68 · see citing works
Growth Factors in Lung Development
Kumar, V., Lakshminrusimha, S., Elabiad, M., Chess, P. R., & Ryan, R. M. (2005) · Advances in clinical chemistry · doi:10.1016/s0065-2423(05)40007-4 · Cited by 66 · see citing works
Congenital diaphragmatic hernia: A retinoid‐signaling pathway disruption during lung development?
Gallot, D., Marceau, G., Coste, K., Hadden, H., Robert‐Gnansia, E., Laurichesse‐Delmas, H., Déchelotte, P. J., Labbé, A., Dastugue, B., Lemery, D. J., et al. (2005) · Birth Defects Research Part A Clinical and Molecular Teratology · doi:10.1002/bdra.20151 · Cited by 59 · see citing works
Differential expression of retinoic acid-inducible (Stra) genes during mouse placentation
Sapin, V., Bouillet, P., Oulad‐Abdelghani, M., Dastugue, B., Chambon, P., & Dollé, P. (2000) · Mechanisms of Development · doi:10.1016/s0925-4773(00)00241-0 · Cited by 48 · see citing works
SMITH, S. A., Martin, K. E., Dodd, K., & Young, I. D. (1994) · Clinical Dysmorphology · doi:10.1097/00019605-199410000-00002 · Cited by 39 · see citing works
Zile, M. H. (2004) · Experimental Biology and Medicine · doi:10.1177/153537020422900703 · Cited by 34 · see citing works
A Population-based Case–control Study of Isolated Anophthalmia and Microphthalmia
Vogt, G., Horváth–Puhó, E., & Czeizel, A. E. (2005) · European Journal of Epidemiology · doi:10.1007/s10654-005-2382-z · Cited by 15 · see citing works
Another patient with pulmonary hypoplasia, microphthalmia and diaphragmatic hernia
Lee, S. Y. R., Shiu, Y. K., Ng, W. F., & Chow, C. B. (2005) · Clinical Dysmorphology · doi:10.1097/01.mcd.0000181604.78252.29 · Cited by 10 · see citing works
Further delineation of the acro-renal-ocular syndrome
(1996) · Pure Amsterdam UMC · doi:10.1002/(sici)1096-8628(19960329)62:3 · Cited by 1 · see citing works
Flagged first, then by citations
1 of the 38 references couldn’t be matched to a known paper.
Cited by
Sorted by citations
Retinoic acid signalling during development
Rhinn, M., & Dollé, P. (2012) · Development · doi:10.1242/dev.065938 · Cited by 849 · see citing works
Retinoic acid in development: Towards an integrated view
Niederreither, K., & Dollé, P. (2008) · Nature Reviews Genetics · doi:10.1038/nrg2340 · Cited by 726 · see citing works
The Retinal Pigment Epithelium in Health and Disease
Sparrrow, J. R., Hicks, D., & Hamel, C. (2010) · Current Molecular Medicine · doi:10.2174/156652410793937813 · Cited by 625 · see citing works
Vitamin A metabolism: An update
D’Ambrosio, D. N., Clugston, R. D., & Blaner, W. S. (2011) · Nutrients · doi:10.3390/nu3010063 · Cited by 562 · see citing works
Stankiewicz, P., Sen, P., Bhatt, S., Storer, M. A., Xia, Z., Bejjani, B. A., Ou, Z., Wiszniewska, J., Driscoll, D. J., Bolivar, J., et al. (2009) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2009.05.005 · Cited by 534 · see citing works
Hepatic stellate cell lipid droplets: A specialized lipid droplet for retinoid storage
Blaner, W. S., O'Byrne, S. M., Wongsiriroj, N., Kluwe, J., D'Ambrosio, D. M., Jiang, H., Schwabe, R. F., Hillman, E. M. C., Piantedosi, R., & Libien, J. (2009) · Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids · doi:10.1016/j.bbalip.2008.11.001 · Cited by 444 · see citing works
Vitamin A in Reproduction and Development
Clagett-Dame, M., & Knutson, D. (2011) · Nutrients · doi:10.3390/nu3040385 · Cited by 439 · see citing works
“for a membrane RBP receptor [26,250], as well as to CDH-affected chromosome loci encoding for several other retinoid-related genes [251].”
BackgroundAnophthalmia and microphthalmia
Verma, A. S., & FitzPatrick, D. R. (2007) · Orphanet Journal of Rare Diseases · doi:10.1186/1750-1172-2-47 · Cited by 403 · see citing works
Self-citationRetinol and retinyl esters: biochemistry and physiology
O'Byrne, S. M., & Blaner, W. S. (2013) · Journal of Lipid Research · doi:10.1194/jlr.r037648 · Cited by 378 · see citing works
Retinoid pathway and cancer therapeutics
Bushue, N., & Wan, Y. Y. (2010) · Advanced Drug Delivery Reviews · doi:10.1016/j.addr.2010.07.003 · Cited by 373 · see citing works
Function of retinoic acid receptors during embryonic development
Mark, M., Ghyselinck, N. B., & Chambon, P. (2009) · Nuclear Receptor Signaling · doi:10.1621/nrs.07002 · Cited by 363 · see citing works
From carrot to clinic: an overview of the retinoic acid signaling pathway
Theodosiou, M., Laudet, V., & Schubert, M. (2010) · Cellular and Molecular Life Sciences · doi:10.1007/s00018-010-0268-z · Cited by 329 · see citing works
Kantarci, S., Al‐Gazali, L., Hill, R. S., Donnai, D., Black, G. C. M., Bieth, É., Chassaing, N., Lacombe, D., Devriendt, K., Teebi, A. S., et al. (2007) · Nature Genetics · doi:10.1038/ng2063 · Cited by 313 · see citing works
The genetic architecture of microphthalmia, anophthalmia and coloboma
Williamson, K. A., & FitzPatrick, D. R. (2014) · European Journal of Medical Genetics · doi:10.1016/j.ejmg.2014.05.002 · Cited by 269 · see citing works
Self-citationBishop, N. B., Stankiewicz, P., & Steinhorn, R. (2011) · American Journal of Respiratory and Critical Care Medicine · doi:10.1164/rccm.201010-1697ci · Cited by 217 · see citing works
The neural crest in cardiac congenital anomalies
Keyte, A., & Hutson, M. R. (2012) · Differentiation · doi:10.1016/j.diff.2012.04.005 · Cited by 259 · see citing works
Genetic Factors in Congenital Diaphragmatic Hernia
Holder, A. M., Klaassens, M., Tibboel, D., de Klein, A., Lee, B., & Scott, D. A. (2007) · The American Journal of Human Genetics · doi:10.1086/513442 · Cited by 238 · see citing works
Scientific Opinion on Dietary Reference Values for vitamin A
EFSA Panel on Dietetic Products, N. (2015) · EFSA Journal · doi:10.2903/j.efsa.2015.4028 · Cited by 240 · see citing works
Berry, D. C., Jin, H., Majumdar, A., & Noy, N. (2011) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1011115108 · Cited by 204 · see citing works
Golzio, C., Martinovic-Bouriel, J., Thomas, S., Mougou-Zrelli, S., Grattagliano-Bessières, B., Bonnière, M., Delahaye, S., Munnich, A., Encha-Razavi, F., Lyonnet, S., et al. (2007) · The American Journal of Human Genetics · doi:10.1086/518177 · Cited by 198 · see citing works
Hepatic stellate cell (vitamin A‐storing cell) and its relative – past, present and future
Senoo, H., Yoshikawa, K., Morii, M., Miura, M., Imai, K., & Mezaki, Y. (2010) · Cell Biology International · doi:10.1042/cbi20100321 · Cited by 193 · see citing works
Isken, A., Golczak, M., Oberhauser, V., Hunzelmann, S., Driever, W., Imanishi, Y., Palczewski, K., & von Lintig, J. (2008) · Cell Metabolism · doi:10.1016/j.cmet.2008.01.009 · Cited by 194 · see citing works
Congenital diaphragmatic hernias: from genes to mechanisms to therapies
Kardon, G., Ackerman, K. G., McCulley, D. J., Shen, Y., Wynn, J., Shang, L., Bogenschutz, E. L., Sun, X., & Chung, W. K. (2017) · Disease Models & Mechanisms · doi:10.1242/dmm.028365 · Cited by 186 · see citing works
Biological Functions of RBP4 and Its Relevance for Human Diseases
Steinhoff, J. S., Lass, A., & Schupp, M. (2021) · Frontiers in Physiology · doi:10.3389/fphys.2021.659977 · Cited by 182 · see citing works
Diverse actions of retinoid receptors in cancer prevention and treatment
Mongan, N. P., & Gudas, L. J. (2007) · Differentiation · doi:10.1111/j.1432-0436.2007.00206.x · Cited by 182 · see citing works
HPLC/UV quantitation of retinal, retinol, and retinyl esters in serum and tissues
Kane, M. A., Folias, A. E., & Napoli, J. L. (2008) · Analytical Biochemistry · doi:10.1016/j.ab.2008.03.038 · Cited by 171 · see citing works
Carotenoid Metabolism at the Intestinal Barrier
von Lintig, J., Moon, J., Lee, J., & Ramkumar, S. (2019) · Biochimica et Biophysica Acta - Molecular and Cell Biology of Lipids · doi:10.1016/j.bbalip.2019.158580 · Cited by 139 · see citing works
Liver Retinol Transporter and Receptor for Serum Retinol-binding Protein (RBP4)
Alapatt, P., Guo, F., Komanetsky, S. M., Wang, S., Cai, J., Sargsyan, A., Rodríguez Díaz, E., Bacon, B. T., Aryal, P., & Graham, T. E. (2013) · Journal of Biological Chemistry · doi:10.1074/jbc.m112.369132 · Cited by 150 · see citing works
Berry, D. C., Jacobs, H., Marwarha, G., Gely-Pernot, A., O'Byrne, S. M., DeSantis, D., Klopfenstein, M., Feret, B., Dennefeld, C., Blaner, W. S., et al. (2013) · Journal of Biological Chemistry · doi:10.1074/jbc.m113.484014 · Cited by 148 · see citing works
Structure of the STRA6 receptor for retinol uptake
Chen, Y., Clarke, O. B., Kim, J., Stowe, S., Kim, Y.-K., Assur, Z., Cavalier, M., Godoy-Ruiz, R., von Alpen, D. C., Manzini, C., et al. (2016) · Science · doi:10.1126/science.aad8266 · Cited by 148 · see citing works
Viard, I., Gaide, O., Jankovic, D. L., Feldmeyer, L., Kerl, K., Pickard, C., Roques, S., Friedmann, P. S., Contassot, E., & French, L. E. (2012) · Journal of Investigative Dermatology · doi:10.1038/jid.2012.330 · Cited by 143 · see citing works
Ahima, R. S., & Osei, S. Y. (2008) · Frontiers of hormone research · doi:10.1159/000115365 · Cited by 136 · see citing works
STRA6 is critical for cellular Vitamin A uptake and homeostasis
Amengual, J., Zhang, N., Kemerer, M., Maeda, T., Palczewski, K., & Von Lintig, J. (2014) · Human Molecular Genetics · doi:10.1093/hmg/ddu258 · Cited by 134 · see citing works
Genetic aspects of human congenital diaphragmatic hernia
Pober Barbara, R. (2008) · Clinical Genetics · doi:10.1111/j.1399-0004.2008.01031.x · Cited by 126 · see citing works
Eye development genes and known syndromes
Slavotinek, A. M. (2011) · Molecular Genetics and Metabolism · doi:10.1016/j.ymgme.2011.09.029 · Cited by 116 · see citing works
Self-citationSrour, M., Chitayat, D. A., Caron, V., Chassaing, N., Bitoun, P., Patry, L., Cordier, M., Capo‐Chichi, J., Francannet, C., Calvas, P., et al. (2013) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2013.08.014 · Cited by 114 · see citing works
Self-citationMechanisms of action of the congenital diaphragmatic hernia-inducing teratogen nitrofen
Noble, B. R., Babiuk, R. P., Clugston, R. D., Underhill, T. M., Sun, H., Kawaguchi, R., Walfish, P. G., Blomhoff, R., Gundersen, T. E., & Greer, J. J. (2007) · American Journal of Physiology-Lung Cellular and Molecular Physiology · doi:10.1152/ajplung.00286.2007 · Cited by 114 · see citing works
Genetic causes of congenital diaphragmatic hernia
Wynn, J., Yu, L., & Chung, W. K. (2014) · Seminars in Fetal and Neonatal Medicine · doi:10.1016/j.siny.2014.09.003 · Cited by 113 · see citing works
Genetics of anophthalmia and microphthalmia. Part 1: Non-syndromic anophthalmia/microphthalmia
Plaisancié, J., Ceroni, F., Holt, R., Seco, C. Z., Calvas, P., Chassaing, N., & Ragge, N. (2019) · Human Genetics · doi:10.1007/s00439-019-01977-y · Cited by 110 · see citing works
The stellate cell system (vitamin A-storing cell system)
Senoo, H., Mezaki, Y., & Fujiwara, M. (2017) · Anatomical Science International · doi:10.1007/s12565-017-0395-9 · Cited by 107 · see citing works
Congenital Diaphragmatic Hernia: Comparison of Animal Models and Relevance to the Human Situation
van Loenhout, R. B., Tibboel, D., Post, M., & Keijzer, R. (2009) · Neonatology · doi:10.1159/000209850 · Cited by 108 · see citing works
The Role of Vitamin A in Retinal Diseases
Sajovic, J., Meglič, A., Glavač, D., Markelj, Š., Hawlina, M., & Fakin, A. (2022) · International Journal of Molecular Sciences · doi:10.3390/ijms23031014 · Cited by 109 · see citing works
Retinoids and Retinal Diseases
Kiser, P. D., & Palczewski, K. (2016) · Annual Review of Vision Science · doi:10.1146/annurev-vision-111815-114407 · Cited by 108 · see citing works
Cell fate decisions, transcription factors and signaling during early retinal development
Diacou, R., Nandigrami, P., Fiser, A., Liu, W., Ashery‐Padan, R., & Cvekl, A. (2022) · Progress in Retinal and Eye Research · doi:10.1016/j.preteyeres.2022.101093 · Cited by 103 · see citing works
Ruiz, A., Mark, M., Jacobs, H., Klopfenstein, M., Hu, J., Lloyd, M., Habib, S., Tosha, C., Radu, R. A., Ghyselinck, N. B., et al. (2012) · Investigative Opthalmology & Visual Science · doi:10.1167/iovs.11-8476 · Cited by 105 · see citing works
Retinol Status of Newborn Infants Is Associated With Congenital Diaphragmatic Hernia
Beurskens, L., Tibboel, D., Lindemans, J., Duvekot, J., Cohen-Overbeek, T., Veenma, D., de Klein, A., Greer, J., & Steegers-Theunissen, R. (2010) · Pediatrics · doi:10.1542/peds.2010-0521 · Cited by 102 · see citing works
How degrading: Cyp26s in hindbrain development
White, R. J., & Schilling, T. F. (2008) · Developmental Dynamics · doi:10.1002/dvdy.21695 · Cited by 105 · see citing works
STRA6, a Cell-Surface Receptor for Retinol-Binding Protein: The Plot Thickens
Blaner, W. S. (2007) · Cell Metabolism · doi:10.1016/j.cmet.2007.02.006 · Cited by 103 · see citing works
Abnormal lung development in congenital diaphragmatic hernia
Ameis, D., Khoshgoo, N., & Keijzer, R. (2017) · Seminars in Pediatric Surgery · doi:10.1053/j.sempedsurg.2017.04.011 · Cited by 103 · see citing works
Lower urinary tract development and disease
Rasouly, H. M., & Lu, W. (2013) · WIREs Systems Biology and Medicine · doi:10.1002/wsbm.1212 · Cited by 103 · see citing works
Chassaing, N., Golzio, C., Odent, S., Lequeux, L., Vigouroux, A., Martinovic-Bouriel, J., Tiziano, F. D., Masini, L., Piro, F., Maragliano, G., et al. (2009) · Human Mutation · doi:10.1002/humu.21023 · Cited by 100 · see citing works
Berry, D. C., & Noy, N. (2012) · Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids · doi:10.1016/j.bbalip.2011.07.002 · Cited by 100 · see citing works
Mechanisms of retinoic acid signaling during cardiogenesis
Stefanovic, S., & Zaffran, S. (2016) · Mechanisms of Development · doi:10.1016/j.mod.2016.12.002 · Cited by 100 · see citing works
Muenzner, M., Tuvia, N., Deutschmann, C., Witte, N., Tolkachov, A., Valai, A., Henze, A., Sander, L. E., Raila, J., & Schupp, M. (2013) · Molecular and Cellular Biology · doi:10.1128/mcb.00221-13 · Cited by 96 · see citing works
Congenital diaphragmatic hernia candidate genes derived from embryonic transcriptomes
Russell, M. K., Longoni, M., Wells, J. M., Maalouf, F. I., Tracy, A. A., Loscertales, M., Ackerman, K. G., Pober, B. R., Lage, K., Bult, C. J., et al. (2012) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1121621109 · Cited by 97 · see citing works
Gerth‐Kahlert, C., Williamson, K. A., Ansari, M., Rainger, J. K., Hingst, V., Zimmermann, T., Tech, S., Guthoff, R. F., van Heyningen, V., & FitzPatrick, D. R. (2013) · Molecular Genetics & Genomic Medicine · doi:10.1002/mgg3.2 · Cited by 96 · see citing works
Self-citationDelivery of retinoid-based therapies to target tissues
Moise, A. R., Noy, N., Palczewski, K., & Blaner, W. S. (2007) · Biochemistry · doi:10.1021/bi7003069 · Cited by 93 · see citing works
The influence of genetics in congenital diaphragmatic hernia
Yu, L., Hernan, R., Wynn, J., & Chung, W. K. (2019) · Seminars in Perinatology · doi:10.1053/j.semperi.2019.07.008 · Cited by 93 · see citing works
Fregeau, B., Kim, B., Hernández, A., Jordan, V. K., Cho, M. T., Schnur, R. E., Monaghan, K. G., Juusola, J., Rosenfeld, J. A., Bhoj, E. J. K., et al. (2016) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2016.03.002 · Cited by 93 · see citing works
Esmailpour, T., Riazifar, H., Liu, L., Donkervoort, S. C., Huang, V. H., Madaan, S., Shoucri, B. M., Busch, A., Wu, J., Towbin, A. J., et al. (2014) · Journal of Medical Genetics · doi:10.1136/jmedgenet-2013-101660 · Cited by 92 · see citing works
Receptor-mediated cellular uptake mechanism that couples to intracellular storage
Kawaguchi, R., Yu, J., Ter-Stepanian, M., Zhong, M., Cheng, G., Yuan, Q., Jin, M., Travis, G. H., Ong, D., & Sun, H. (2011) · ACS Chemical Biology · doi:10.1021/cb200178w · Cited by 91 · see citing works
Metabolism of carotenoids and retinoids related to vision
von Lintig, J. (2012) · Journal of Biological Chemistry · doi:10.1074/jbc.r111.303990 · Cited by 91 · see citing works
Monoallelic and Biallelic Mutations in MAB21L2 Cause a Spectrum of Major Eye Malformations
Rainger, J., Pehli̇van, D., Johansson, S., Bengani, H., Sánchez‐Pulido, L., Williamson, K. A., Türe, M., Barker, H. S., Rosendahl, K., Spranger, J. W., et al. (2014) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2014.05.005 · Cited by 91 · see citing works
Self-citationRainger, J., van Beusekom, E., Ramsay, J. K., McKie, L., Al‐Gazali, L., Pallotta, R., Saponari, A., Branney, P., Fisher, M. E., Morrison, H., et al. (2011) · PLoS Genetics · doi:10.1371/journal.pgen.1002114 · Cited by 90 · see citing works
Self-citationCongenital diaphragmatic hernia (CDH) etiology as revealed by pathway genetics
Kantarci, S., & Donahoe, P. K. (2007) · American Journal of Medical Genetics Part C Seminars in Medical Genetics · doi:10.1002/ajmg.c.30132 · Cited by 90 · see citing works
Retina, retinol, retinal and the natural history of vitamin A as a light sensor
Zhong, M., Kawaguchi, R., Kassai, M., & Sun, H. (2012) · Nutrients · doi:10.3390/nu4122069 · Cited by 89 · see citing works
The Molecular Basis of Human Anophthalmia and Microphthalmia
Harding, P., & Moosajee, M. (2019) · Journal of Developmental Biology · doi:10.3390/jdb7030016 · Cited by 88 · see citing works
Seeing clearly: the dominant and recessive nature ofFOXE3in eye developmental anomalies
İşerı̇, S. A. U., Osborne, R. J., Farrall, M., Wyatt, A. W., Mirza, G. K., Nürnberg, G., Kluck, C., Herbert, H. M., Martin, A., Hussain, M. S., et al. (2009) · Human Mutation · doi:10.1002/humu.21079 · Cited by 88 · see citing works
Self-citationMakrythanasis, P., Nelis, M., Santoni, F. A., Guipponi, M., Vannier, A., Béna, F., Gimelli, S., Stathaki, E., Temtamy, S. A., Mégarbané, A., et al. (2014) · Human Mutation · doi:10.1002/humu.22617 · Cited by 87 · see citing works
González‐Rodríguez, J., Pelcastre-Luna, E., Tovilla-Canales, J. L., García‐Ortíz, J. E., Amato-Almanza, M., Villanueva‐Mendoza, C., Espinosa-Mattar, Z., & Zenteno, J. C. (2010) · British Journal of Ophthalmology · doi:10.1136/bjo.2009.173500 · Cited by 84 · see citing works
Developmental and genetic aspects of congenital diaphragmatic hernia
Veenma, D. C. M., de Klein, A., & Tibboel, D. (2012) · Pediatric Pulmonology · doi:10.1002/ppul.22553 · Cited by 84 · see citing works
LaHaye, S., Corsmeier, D., Basu, M., Bowman, J. L., Fitzgerald‐Butt, S. M., Zender, G. A., Bosse, K. M., McBride, K. L., White, P., & Garg, V. (2016) · Circulation Cardiovascular Genetics · doi:10.1161/circgenetics.115.001324 · Cited by 82 · see citing works
Conserved genetic pathways associated with microphthalmia, anophthalmia, and coloboma
Reis, L. M., & Semina, E. V. (2015) · Birth Defects Research Part C Embryo Today Reviews · doi:10.1002/bdrc.21097 · Cited by 81 · see citing works
Yavi, M., Abouzeid, H., Gawdat, G. I., de Preux, A.-S., Xiao, T., Bardakjian, T., Schneider, A. S., Choi, A., Jorgenson, E., Baier, H., et al. (2013) · Human Molecular Genetics · doi:10.1093/hmg/ddt179 · Cited by 83 · see citing works
Self-citationCasey, J. P., Kawaguchi, R., Morrissey, M. E., Sun, H., McGettigan, P., Nielsen, J. E., Conroy, J., Regan, R., Kenny, E. M., Cormican, P., et al. (2011) · Human Mutation · doi:10.1002/humu.21590 · Cited by 77 · see citing works
Chou, C. M., Nelson, C., Tarlé, S. A., Pribila, J. T., Bardakjian, T., Woods, S., Schneider, A., & Glaser, T. (2015) · Cell · doi:10.1016/j.cell.2015.03.006 · Cited by 76 · see citing works
Kishi, J. Y., Liu, N., West, E. R., Sheng, K., Jordanides, J. J., Serrata, M. P., Cepko, C. L., Saka, S. K., & Yin, P. (2022) · Nature Methods · doi:10.1038/s41592-022-01604-1 · Cited by 78 · see citing works
Clugston, R. D., Zhang, W., Álvarez, S., de Lera, Á. R., & Greer, J. J. (2009) · American Journal of Respiratory Cell and Molecular Biology · doi:10.1165/rcmb.2009-0076oc · Cited by 76 · see citing works
Redefined genomic architecture in 15q24 directed by patient deletion/duplication breakpoint mapping
El‐Hattab, A. W., Smolarek, T. A., Walker, M. E., Schorry, E. K., Immken, L. L., Patel, G. S., Abbott, M., Lanpher, B. C., Ou, Z., Kang, S.-H. L., et al. (2009) · Human Genetics · doi:10.1007/s00439-009-0706-x · Cited by 76 · see citing works
Ackerman, K. G., & Pober, B. R. (2007) · American Journal of Medical Genetics Part C Seminars in Medical Genetics · doi:10.1002/ajmg.c.30133 · Cited by 76 · see citing works
Slavotinek, A. M. (2018) · Human Genetics · doi:10.1007/s00439-018-1949-1 · Cited by 75 · see citing works
Self-citationVitamin A Transport Mechanism of the Multitransmembrane Cell-Surface Receptor STRA6
Kawaguchi, R., Zhong, M., Kassai, M., Ter-Stepanian, M., & Sun, H. (2015) · Membranes · doi:10.3390/membranes5030425 · Cited by 75 · see citing works
Altered retinoid uptake and action contributes to cell survival in endometriosis
Pavone, M. E., Reierstad, S., Sun, H., Milad, M., Bulun, S. E., & Cheng, Y.-H. (2010) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2010-0459 · Cited by 74 · see citing works
Kim, Y., & Quadro, L. (2010) · Methods in molecular biology · doi:10.1007/978-1-60327-325-1_15 · Cited by 76 · see citing works
Retinoid Homeostasis and Beyond: How Retinol Binding Protein 4 Contributes to Health and Disease
Steinhoff, J. S., Lass, A., & Schupp, M. (2022) · Nutrients · doi:10.3390/nu14061236 · Cited by 73 · see citing works
The Membrane Receptor for Plasma Retinol-Binding Protein, A New Type of Cell-Surface Receptor
Sun, H., & Kawaguchi, R. (2011) · International review of cytology · doi:10.1016/b978-0-12-386041-5.00001-7 · Cited by 70 · see citing works
Wiesinger, A., Boink, G. J. J., Christoffels, V. M., & Devalla, H. D. (2021) · Stem Cell Reports · doi:10.1016/j.stemcr.2021.09.010 · Cited by 70 · see citing works
Kawaguchi, R., Yu, J., Wiita, P., Honda, J., & Sun, H. (2008) · Journal of Biological Chemistry · doi:10.1074/jbc.m801060200 · Cited by 70 · see citing works
Molecular genetics of congenital diaphragmatic defects
Bielińska, M., Jay, P. Y., Erlich, J. M., Mannisto, S., Urbán, Z., Heikinheimo, M., & Wilson, D. B. (2007) · Annals of Medicine · doi:10.1080/07853890701326883 · Cited by 70 · see citing works
Cantley, J. (2014) · Mammalian Genome · doi:10.1007/s00335-014-9538-7 · Cited by 67 · see citing works
Pulmonary vascular development goes awry in congenital lung abnormalities
Kool, H. M., Mous, D. S., Tibboel, D., de Klein, A., & Rottier, R. J. (2014) · Birth Defects Research Part C Embryo Today Reviews · doi:10.1002/bdrc.21085 · Cited by 67 · see citing works
STRA6: role in cellular retinol uptake and efflux.
Kelly, M., & Lintig, J. V. (2015) · Europe PMC (PubMed Central) · doi:10.3978/j.issn.2304-3881.2015.01.12 · Cited by 67 · see citing works
Kashyap, V., Laursen, K. B., Brenet, F. A., Viale, A. J., Scandura, J. M., & Gudas, L. J. (2012) · Journal of Cell Science · doi:10.1242/jcs.119701 · Cited by 68 · see citing works
Vitamin A as a Regulator of Antigen Presenting Cells ,
Duriancik, D. M., Lackey, D. E., & Hoag, K. A. (2010) · Journal of Nutrition · doi:10.3945/jn.110.124461 · Cited by 65 · see citing works
The hedgehog pathway and ocular developmental anomalies
Cavodeassi, F., Creuzet, S., & Etchevers, H. (2018) · Human Genetics · doi:10.1007/s00439-018-1918-8 · Cited by 64 · see citing works
The molecular aspects of absorption and metabolism of carotenoids and retinoids in vertebrates
Widjaja‐Adhi, M. A. K., & Golczak, M. (2019) · Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids · doi:10.1016/j.bbalip.2019.158571 · Cited by 65 · see citing works
Enzymatic Metabolism of Vitamin A in Developing Vertebrate Embryos
Metzler, M. A., & Sandell, L. J. (2016) · Nutrients · doi:10.3390/nu8120812 · Cited by 62 · see citing works
Cameron, J. R., Megaw, R. D., Tatham, A. J., McGrory, S., MacGillivray, T., Doubal, F., Wardlaw, J. M., Trucco, E., Chandran, S., & Dhillon, B. (2017) · Progress in Retinal and Eye Research · doi:10.1016/j.preteyeres.2017.04.003 · Cited by 62 · see citing works
Vitamin A derivatives as treatment options for retinal degenerative diseases
Perusek, L., & Maeda, T. (2013) · Nutrients · doi:10.3390/nu5072646 · Cited by 60 · see citing works
Viral infection and human disease - insights from minimotifs
Kadaveru, K. (2008) · Frontiers in bioscience · doi:10.2741/3166 · Cited by 60 · see citing works
- Authors
- Pasutto, F., Sticht, H., Hammersen, G., Gillessen-Kaesbach, G., FitzPatrick, D. R., Nürnberg, G., Brasch, F., Schirmer-Zimmermann, H., Tolmie, J. L., Chitayat, D., Houge, G., Fernández-Martínez, L., Keating, S., Mortier, G., Hennekam, R. C. M., von der Wense, A., Slavotinek, A., Meinecke, P., Bitoun, P., Becker, C., Nürnberg, P., Reis, A., & Rauch, A.
- Affiliations
- Friedrich-Alexander-Universität Erlangen-Nürnberg (DE)
- Cnopf´sche Kinderklinik (DE)
- MRC Human Genetics Unit (GB)
- University of Cologne (DE)
- Klinikum Bremen-Mitte (DE)
- Haukeland University Hospital (NO)
- Mount Sinai Hospital (CA)
- Ghent University Hospital (BE)
- Great Ormond Street Hospital (GB)
- University of California, San Francisco (US)
- Altonaer Kinderkrankenhaus (DE)
- Hôpital Jean-Verdier (FR)
- Corresponding author
- Rauch, Anita
- ORCID
- Venue
- The American Journal of Human Genetics
- Publisher
- Elsevier BV
- Published
- 2007-03
- Volume
- 80
- Issue
- 3
- Pages
- 550-560
- ISSN
- 0002-9297 (ISSN-L)
- PMC
- PMC1821097
- OpenAlex
- W2017461303
- Cited by
- 361
- References
- 38
- Citations by year
- 2026: 4 · 2025: 15 · 2024: 12 · 2023: 9 · 2022: 16 · 2021: 27 · 2020: 20 · 2019: 22 · 2018: 11 · 2017: 13 · 2016: 19 · 2015: 19 · 2014: 26 · 2013: 23 · 2012: 20
- FWCI
- 22.06
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Licence
- Locations
- The American Journal of Human Genetics (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- Data Archiving and Networked Services (DANS) (submittedVersion)
- Ghent University Academic Bibliography (Ghent University) (submittedVersion)
- Digital Access to Libraries (submittedVersion)
- UCL Discovery (University College London) (submittedVersion)
- Pure Amsterdam UMC (submittedVersion)
- Edinburgh Research Explorer (University of Edinburgh) (submittedVersion, other-oa)
- Funders
- Deutsche Forschungsgemeinschaft (SFB 539)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Developmental Biology › Congenital limb and hand anomalies
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Ocular Disorders and Treatments
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
- Keywords
- STRA6, anophthalmia, congenital heart disease, diaphragmatic hernia, alveolar capillary dysplasia, pulmonary hypoplasia, intellectual disability, consanguinity, homozygous mutation, missense mutations, nonsense mutation, chromosome 15, retinoic acid signaling, consanguineous family
- MeSH terms
- Abnormalities, Multiple, Adolescent, Adult, Amino Acid Sequence, Anophthalmos, Capillaries, Consanguinity, Female, Heart Defects, Congenital, Hernia, Diaphragmatic, Humans, Infant, Infant, Newborn, Lung, Male, Membrane Proteins, Intellectual Disability, Molecular Sequence Data, Mutation, Pedigree, Phosphorylation, Pulmonary Alveoli, Receptors, Cell Surface, Sequence Homology, Amino Acid
About these checks
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.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review
