Abnormal cerebellar development and axonal decussation due to mutations in AHI1 in Joubert syndrome
Ferland, Russell J, Eyaid, Wafaa, Collura, Randall V, Tully, Laura D, Hill, R Sean, Al-Nouri, Doha, Al-Rumayyan, Ahmed, Topcu, Meral +5 more·2004·Nature Genetics
DOI 10.1038/ng1419
Cited by (409)
Items 101–200 of 409
- Classical Embryological Studies and Modern Genetic Analysis of Midbrain and Cerebellum DevelopmentMark Zervas, Sandra Blaess, Alexandra L. Joyner · 2005 · Current topics in developmental biology/Current Topics in Developmental Biology
- The genetic nomenclature of recessive cerebellar ataxiasMalco Rossi, Mathieu Anheim, Alexandra Dürr, Christine Klein, Michel Koenig, Matthis Synofzik, Connie Marras, Bart P.C. van de Warrenburg, on behalf of the International Parkinson and Movement Disorder Society Task Force on Classification and Nomenclature of Genetic Movement Disorders · 2018 · Movement Disorders
- Identification of the first AHI1 gene mutations in nephronophthisis-associated Joubert syndromeBoris Utsch, John Andrew Sayer, Massimo Attanasio, Rob Rodrigues Pereira, Michael Roger Eccles, Hans-Christian Hennies, Edgar A. Otto, Friedhelm Hildebrandt · 2005 · Pediatric Nephrology
- Primary cilia proteins: ciliary and extraciliary sites and functionsKiet Hua, Russell J. Ferland · 2018 · Cellular and Molecular Life Sciences
- Syndromes, Disorders and Maternal Risk Factors Associated with Neural Tube Defects (IV)Chih‐Ping Chen · 2008 · Taiwanese Journal of Obstetrics and Gynecology
- Diffusion tensor MRI shows abnormal brainstem crossing fibers associated with ROBO3 mutationsNancy L. Sicotte, G Salamon, David W. Shattuck, Nathan S. Hageman, U. Rüb, Noriko Salamon, A. E. Drain, Joseph L. Demer, Elizabeth C. Engle, Jeffry R. Alger et al. · 2006 · Neurology
- CC2D2Amutations in Meckel and Joubert syndromes indicate a genotype-phenotype correlationSoumaya Mougou-Zerelli, Sophie Thomas, Emmanuelle Szenker‐Ravi, Sophie Audollent, Nadia Elkhartoufi, Candice Babarit, Stéphane Romano, Rémi Salomon, Jeanne Amiel, Chantal Esculpavit et al. · 2009 · Human Mutation
- Congenital diaphragmatic hernia (CDH) etiology as revealed by pathway geneticsSibel Kantarci, Patricia K. Donahoe · 2007 · American Journal of Medical Genetics Part C Seminars in Medical Genetics
- Huntingtin-associated protein 1 interacts with Ahi1 to regulate cerebellar and brainstem development in miceGuoqing Sheng, Xingshun Xu, Yung‐Feng Lin, Chuan-En Wang, Juan Rong, Dongmei Cheng, Junmin Peng, Xiaoyan Jiang, Shi-Hua Li, Xiao‐Jiang Li · 2008 · Journal of Clinical Investigation
- Genetic basis of Joubert syndrome and related disorders of cerebellar developmentCarrie M Louie, Joseph G. Gleeson · 2005 · Human Molecular Genetics
- Human disorders of axon guidanceAlicia A. Nugent, Adrianne Kolpak, Elizabeth C. Engle · 2012 · Current Opinion in Neurobiology
- Recurrent CNVs and SNVs at the NPHP1 Locus Contribute Pathogenic Alleles to Bardet-Biedl SyndromeAnna Lindstrand, Erica E. Davis, Claudia M.B. Carvalho, Davut Pehli̇van, Jason R. Willer, I-Chun Tsai, Subhadra Ramanathan, Craig William Zuppan, Aniko Sabo, Donna Marie Muzny et al. · 2014 · The American Journal of Human Genetics
- Mutations in ARMC9, which Encodes a Basal Body Protein, Cause Joubert Syndrome in Humans and Ciliopathy Phenotypes in ZebrafishJulie C. Van De Weghe, Tamara D. S. Rusterholz, Brooke L. Latour, Megan E. Grout, Kimberly A. Aldinger, Ranad Shaheen, Jennifer C. Dempsey, Sateesh Maddirevula, Yong-Han Hank Cheng, Ian G. Phelps et al. · 2017 · The American Journal of Human Genetics
- ARL3 Mutations Cause Joubert Syndrome by Disrupting Ciliary Protein CompositionSumaya Alkanderi, Elisa Molinari, Ranad Shaheen, Yasmin ElMaghloob, Louise A. Stephen, Veronica Sammut, Simon A. Ramsbottom, Shalabh Srivastava, George Cairns, Noel Edwards et al. · 2018 · The American Journal of Human Genetics
- Development of the Human Cerebellum and Its DisordersHans J. ten Donkelaar, Martin M. Y. Lammens · 2009 · Clinics in Perinatology
- An overview of the patient with ataxiaCaterina Mariotti, Roberto Fancellu, Stefano Di Donato · 2005 · Journal of Neurology
- Prenatal diagnosis in pregnancies at risk for Joubert syndrome by ultrasound and MRIDan Doherty, Ian A. Glass, Joseph R. Siebert, Peter J. Strouse, Melissa A. Parisi, Dennis Shaw, Phillip F. Chance, Mason Barr, David A. Nyberg · 2005 · Prenatal Diagnosis
- Targeting Primitive Chronic Myeloid Leukemia Cells by Effective Inhibition of a New AHI-1–BCR-ABL–JAK2 ComplexMin Chen, Paolo Gallipoli, Donna DeGeer, Ivan Sloma, Donna L. Forrest, Matthew M. K. Chan, Damian Lai, Heather G. Jørgensen, Ashley Ringrose, Hui Mi Wang et al. · 2013 · JNCI Journal of the National Cancer Institute
- Systematic review of autosomal recessive ataxias and proposal for a classificationMarie Beaudin, Christopher J. Klein, Guy Armand Rouleau, Nicolas Dupré · 2017 · Cerebellum & Ataxias
- Diffusion tensor imaging and fiber tractography in brain malformationsAndrea Poretti, Avner Meoded, Andrea Rossi, Charles Raybaud, Thierry A.G.M. Huisman · 2013 · Pediatric Radiology
- The Joubert–Meckel–Nephronophthisis Spectrum of CiliopathiesJulie Craft Van De Weghe, Arianna Ericka Gómez, Dan Doherty · 2022 · Annual Review of Genomics and Human Genetics
- AHI1, a pivotal neurodevelopmental gene, and C6orf217 are associated with susceptibility to schizophreniaDaniela Amann‐Zalcenstein, Nili Avidan, Kyra Kanyas, Richard P. Ebstein, Yoav Kohn, Adnan Hamdan, Edna Ben‐Asher, Osnat Karni, Muhammed Mujaheed, Ronnen H. Segman et al. · 2006 · European Journal of Human Genetics
- NephronophthisisSophie Saunier, Rémi Salomon, Corinne Antignac · 2005 · Current Opinion in Genetics & Development
- Analysis of the brain-stem white-matter tracts with diffusion tensor imagingNoriko Salamon, Nancy L. Sicotte, Jeffry R. Alger, David W. Shattuck, Susan Perlman, Usha S. Sinha, Helmuth Schultze-Haakh, G Salamon · 2005 · Neuroradiology
- Mutation ofPOC1Bin a Severe Syndromic Retinal CiliopathyBodo Bernhard Beck, Jennifer B. Phillips, Malte P. Bartram, Jeremy Wegner, Michaela Thoenes, Andrea Pannes, Josephina Sampson, Raoul Heller, Heike Göbel, Friederike Koerber et al. · 2014 · Human Mutation
- NephronophthisisRoslyn Simms, Lorraine Eley, John Andrew Sayer · 2008 · European Journal of Human Genetics
- A Potential Contributory Role for Ciliary Dysfunction in the 16p11.2 600 kb BP4-BP5 PathologyEugenia Migliavacca, Christelle Golzio, Katrin Männik, Ian Blumenthal, Edwin C. T. Oh, Louise Harewood, Jack A. Kosmicki, Maria Nicla Loviglio, Giuliana Giannuzzi, Loyse Hippolyte et al. · 2015 · The American Journal of Human Genetics
- Inositol polyphosphate 5‐phosphatases; new players in the regulation of cilia and ciliopathiesSarah E. Conduit, Jennifer M. Dyson, Christina Anne Mitchell · 2012 · FEBS Letters
- Molecular genetic determinants of human brain sizeBor Luen Tang · 2006 · Biochemical and Biophysical Research Communications
- Neuronal Abelson helper integration site-1 (Ahi1) deficiency in mice alters TrkB signaling with a depressive phenotypeXingshun Xu, Hao Yang, Yung‐Feng Lin, Xiang Li, Austin Cape, Kerry James Ressler, Shihua Li, Xiao‐Jiang Li · 2010 · Proceedings of the National Academy of Sciences
- The essential role of primary cilia in cerebral cortical development and disordersSiling Liu, Mia X Trupiano, Jeremy M. Simon, Jiami Guo, Eva S. Anton · 2021 · Current topics in developmental biology/Current Topics in Developmental Biology
- Molar Tooth Sign in Fetal Brain Magnetic Resonance Imaging Leading to the Prenatal Diagnosis of Joubert Syndrome and Related DisordersJoël Fluss, Susan Blasér, David A. Chitayat, Hani A. Akoury, Phyllis Glanc, Martin B. Skidmore, Charles Raybaud · 2006 · Journal of Child Neurology
- A large replication study and meta-analysis in European samples provides further support for association of AHI1 markers with schizophreniaAndrés Ingason, Ina Giegling, Sven Cichon, Thomas Folkmann Hansen, Henrik Berg Rasmussen, Jimmi Nielsen, Gesche Jűrgens, Pierandrea Muglia, Annette M. Hartmann, Eric Strengman et al. · 2010 · Human Molecular Genetics
- Pitt–Hopkins syndrome in two patients and further definition of the phenotypeMaarit M. Peippo, Kalle O. J. Simola, Leena K. Valanne, Andreo T. Larsen, Marketta Kähkönen, Mari Auranen, Jaakko Ignatius · 2006 · Clinical Dysmorphology
- Molecular genetic analysis of 30 families with Joubert syndromeToshifumi Suzuki, Noriko Miyake, Yoshinori Tsurusaki, Nobuhiko Okamoto, A. Alkindy, A. Inaba, M. Sato, Shuichi Ito, Kazuhiro Muramatsu, S. Kimura et al. · 2016 · Clinical Genetics
- Ophthalmic Features of Joubert SyndromeArif O. Khan, Darren T. Oystreck, Mohammed Zain Seidahmed, Abdulmajeed AlDrees, Salah A. Elmalik, Ibrahim A. Alorainy, Mustafa Abdalla M Salih · 2008 · Ophthalmology
- Retinal Degeneration and Failure of Photoreceptor Outer Segment Formation in Mice with Targeted Deletion of the Joubert Syndrome Gene, Ahi1J. E. Westfall, C. Hoyt, Q. Liu, Y.-C. Hsiao, Eric A. Pierce, Patrick Page-McCaw, Russell J. Ferland · 2010 · Journal of Neuroscience
- Bioinformatic analysis of ciliary transition zone proteins reveals insights into the evolution of ciliopathy networksA. Barker, KAREN SUE RENZAGLIA, Kimberley Fry, Helen R. Dawe · 2014 · BMC Genomics
- Renal cystic diseases: diverse phenotypes converge on the cilium/centrosome complexLisa M. Guay‐Woodford · 2006 · Pediatric Nephrology
- The face of Joubert syndrome: A study of dysmorphology and anthropometryStephen R. Braddock, Kimberly M. Henley, Bernard L. Maria · 2007 · American Journal of Medical Genetics Part A
- A CEP104-CSPP1 Complex Is Required for Formation of Primary Cilia Competent in Hedgehog SignalingKari-Anne Myrum Frikstad, Elisa Molinari, Marianne Thoresen, Simon A. Ramsbottom, Frances E. P. Hughes, Stef J.F. Letteboer, Sania Gilani, Kay Oliver Schink, Trond Stokke, Stefan Geimer et al. · 2019 · Cell Reports
- Jouberin localizes to collecting ducts and interacts with nephrocystin-1Lorraine Eley, Christos Gabrielides, Matthew Adams, Colin A. Johnson, Friedhelm Hildebrandt, John Andrew Sayer · 2008 · Kidney International
- Multi-population genome-wide association study implicates immune and non-immune factors in pediatric steroid-sensitive nephrotic syndromeAlexandra Barry, Michelle T. McNulty, Xiaoyuan Jia, Yask Gupta, Hanna Dêbiec, Yang Luo, China Nagano, Tomoko Horinouchi, Seulgi Jung, Manuela Colucci et al. · 2023 · Nature Communications
- The molar tooth signMaha Saad Zaki, Alice K. Abdel Aleem, Ghada M. H. Abdel‐Salam, Sarah Marsh, Jennifer L. Silhavy, A. James Barkovich, M. Elizabeth Ross, Sahar N. Saleem, William B. Dobyns, Joseph G. Gleeson · 2008 · Neurology
- Lentivector Iterations and Pre-Clinical Scale-Up/Toxicity Testing: Targeting Mobilized CD34 + Cells for Correction of Fabry DiseaseJu Huang, Aneal Khan, B C Y Au, Dwayne L. Barber, Lucía López-Vásquez, Nicole L. Prokopishyn, Michel Boutin, Michael Rothe, Jack W. Rip, Mona Abaoui et al. · 2017 · Molecular Therapy — Methods & Clinical Development
- Validation of in utero tractography of human fetal commissural and internal capsule fibers with histological structure tensor analysisMitter, Christian, Jakab, András, Brugger, Peter C., Ricken, Gerda, Gruber, Gerlinde M., Bettelheim, Dieter, Scharrer, Anke, Langs, Georg, Hainfellner, Johannes A., Prayer, Daniela et al. · 2015 · Frontiers in Neuroanatomy
- Large-scale targeted sequencing comparison highlights extreme genetic heterogeneity in nephronophthisis-related ciliopathiesMarkus Schueler, Jan Halbritter, Ian G. Phelps, Daniela Anne Braun, Edgar A. Otto, Jonathan D. Porath, Heon Yung Gee, Jay Shendure, Brian J. O’Roak, Jennifer A. Lawson et al. · 2015 · Journal of Medical Genetics
- Eye Movement Abnormalities in Joubert SyndromeAvery H. Weiss, Dan Doherty, Melissa A. Parisi, Dennis Shaw, Ian A. Glass, James O. Phillips · 2009 · Investigative Ophthalmology & Visual Science
- Retinal Abnormalities Characteristic of Inherited Renal DiseaseJudy Savige, Sujiva Ratnaike, Deb J. Colville · 2011 · Journal of the American Society of Nephrology
- Species differences in the expression of Ahi1, a protein implicated in the neurodevelopmental disorder Joubert syndrome, with preferential accumulation to stigmoid bodiesJennifer Doering, Kelly A. Kane, Yi‐Chun Hsiao, Cong Yao, Bingxing Shi, Amber D. Slowik, Bakul Dhagat-Mehta, Delisha D. Scott, Jeffrey G. Ault, Patrick Page-McCaw et al. · 2008 · The Journal of Comparative Neurology
- Support for involvement of the AHI1 locus in schizophreniaAndrés Ingason, Thordur Sigmundsson, Stacy Steinberg, Engilbert Sigurðsson, Magnus H. Haraldsson, Brynja Björk Magnúsdóttir, Michael L. Frigge, Augustine Kong, Jeffrey R. Gulcher, Unnur Þorsteinsdóttir et al. · 2007 · European Journal of Human Genetics
- Zebrafish Models of Photoreceptor Dysfunction and DegenerationNicole C. L. Noel, Ian M. MacDonald, W. Ted Allison · 2021 · Biomolecules
- Diffusion tensor imaging of midline posterior fossa malformationsElysa Widjaja, Susan E. Blaser, Charles Raybaud · 2006 · Pediatric Radiology
- Mutation spectrum of Joubert syndrome and related disorders among ArabsSalma Ben‐Salem, Aisha M Al-Shamsi, Joseph G. Gleeson, Bassam R. Ali, Lihadh Al‐Gazali · 2014 · Human Genome Variation
- Understanding pathogenic mechanisms in polycystic kidney disease provides clues for therapyPeter C. Harris, Vicente E. Torres · 2006 · Current Opinion in Nephrology & Hypertension
- Unraveling the genetics of Joubert and Meckel-Gruber syndromesKatarzyna Szymańska, Verity L. Hartill, Colin A. Johnson · 2015 · Journal of Pediatric Genetics
- Massively Parallel Sequencing of Patients with Intellectual Disability, Congenital Anomalies and/or Autism Spectrum Disorders with a Targeted Gene PanelMaggie Brett, John Richard McPherson, Zhi Jiang Zang, Angeline Lai, Ee Shien Tan, Ivy Ng, Lai-choo Ong, Breana Cham, Patrick Tan, Steve Rozen et al. · 2014 · PLoS ONE
- Reelin demarcates a subset of pre‐Bötzinger complex neurons in adult ratWenbin Tan, David L. Sherman, J. Turesson, Xuesi Max Shao, Wiktor A. Janczewski, Jack L. Feldman · 2011 · The Journal of Comparative Neurology
- DNA analysis of AHI1, NPHP1 and CYCLIN D1 in Joubert syndrome patients from the NetherlandsHester Y. Kroes, Patrick H.A. van Zon, Dietje E. Fransen van de Putte, Marcel R. Nelen, Rutger-Jan Nievelstein, D. Wittebol‐Post, Onno van Nieuwenhuizen, Grazia M. S. Mancini, Marjo S. van der Knaap, Mei Lan Kwee et al. · 2007 · European Journal of Medical Genetics
- Mutations in NCAPG2 Cause a Severe Neurodevelopmental Syndrome that Expands the Phenotypic Spectrum of CondensinopathiesTahir Naeem Khan, Kamal Khan, Azita Sadeghpour, Hannah Reynolds, Yezmin Perilla, Marie McDonald, William Brian Gallentine, Shahid Mahmood Baig, Erica E. Davis, Nicholas Katsanis et al. · 2019 · The American Journal of Human Genetics
- Co‐occurrence of distinct ciliopathy diseases in single families suggests genetic modifiersMaha Saad Zaki, Shifteh Sattar, Rustin A. Massoudi, Joseph G. Gleeson · 2011 · American Journal of Medical Genetics Part A
- Systematic detection of brain protein-coding genes under positive selection during primate evolution and their roles in cognitionGuillaume Dumas, Simon Malesys, Thomas Bourgeron · 2021 · Genome Research
- Fine mapping of AHI1 as a schizophrenia susceptibility gene: from association to evolutionary evidenceFederica Torri, Anna Akelai, Sara Lupoli, Manuela Sironi, Daniela Amann‐Zalcenstein, Matteo Fumagalli, Chiara Dal Fiume, Edna Ben‐Asher, Kyra Kanyas, Rachele Cagliani et al. · 2010 · The FASEB Journal
- Ahi1 regulates the nuclear translocation of glucocorticoid receptor to modulate stress responseBin Wang, Ning Xin, Xuanchen Qian, Lijing Zhai, Zhigang Miao, Yang Yong, Shihua Li, Miao Sun, Xingshun Xu, Xiao‐Jiang Li · 2021 · Translational Psychiatry
- Linkage to chromosome 2q36.1 in autosomal dominant Dandy-Walker malformation with occipital cephalocele and evidence for genetic heterogeneityAli Jalali, Kimberly A. Aldinger, Ajit Chary, David G. McLone, Robin M. Bowman, Luan Cong Le, Phillip E. Jardine, Ruth A Newbury-Ecob, Andrew A. Mallick, Nadereh Jafari et al. · 2008 · Human Genetics
- Primary Cilia as a Possible Link between Left-Right Asymmetry and Neurodevelopmental DiseasesAndrey S. Trulioff, Alexander S. Ermakov, Yegor B. Malashichev · 2017 · Genes
- Loss of Ahi1 Impairs Neurotransmitter Release and Causes Depressive Behaviors in MiceLiyan Ren, Xuanchen Qian, Lijing Zhai, Miao Sun, Zhigang Miao, Jizhen Li, Xingshun Xu · 2014 · PLoS ONE
- The Ciliopathy Gene ahi1 Is Required for Zebrafish Cone Photoreceptor Outer Segment Morphogenesis and SurvivalEmma M. Lessieur, Joseph Fogerty, Robert J. Gaivin, Ping Song, Brian D. Perkins · 2017 · Investigative Ophthalmology & Visual Science
- Species-Specific miRNAs in Human Brain Development and DiseaseKanella Prodromidou, Rebecca Matsas · 2019 · Frontiers in Cellular Neuroscience
- Loss of Ahi1 Affects Early Development by Impairing BM88/Cend1-mediated Neuronal DifferentiationLing Weng, Yung-Feng Lin, Alina L. Li, Chuan-En Wang, Sen Yan, Miao Sun, M. Gaertig, Naureen Mitha, J. Kosaka, Taketoshi Wakabayashi et al. · 2013 · Journal of Neuroscience
- Joubert syndromeAhmed Farag Elhassanien, HeshamAbdel-Aziz Alghaiaty · 2013 · Annals of Indian Academy of Neurology
- Huntingtin-associated protein 1 regulates postnatal neurogenesis and neurotrophin receptor sortingJianxing Xiang, Hao Yang, Ting Zhao, Miao Sun, Xingshun Xu, Xin‐Fu Zhou, Shi-Hua Li, Xiao‐Jiang Li · 2013 · Journal of Clinical Investigation
- Zebrafish and inherited photoreceptor disease: Models and insightsNicole C. L. Noel, W. Ted Allison, Ian M. MacDonald, Jennifer C. Hocking · 2022 · Progress in Retinal and Eye Research
- Ciliary extracellular vesicles are distinct from the cytosolic extracellular vesiclesAshraf M. Mohieldin, Rajasekharreddy Pala, Richard Beuttler, James J. Moresco, John R. Yates, Surya M. Nauli · 2021 · Journal of Extracellular Vesicles
- Disease Gene Characterization through Large-Scale Co-Expression AnalysisAllen Day, Jun Dong, Vincent Anthony Funari, Bret Harry, Samuel P. Strom, Dan H. Cohn, Stanley F. Nelson · 2009 · PLoS ONE
- Genetic basis of neurodevelopmental disorders in 103 Jordanian familiesTawfiq Jamal Froukh, Omar Nafie, Sana' A. S. Al Hait, Lucia Laugwitz, Julia Sommerfeld, Marc Sturm, Aya Baraghiti, Tala Issa, Anis Al‐Nazer, Philipp Alexander Koch et al. · 2020 · Clinical Genetics
- Non-manifesting AHI1 truncations indicate localized loss-of-function tolerance in a severe Mendelian disease geneSolaf Mohamed Elsayed, Jennifer B. Phillips, Raoul Heller, Michaela Thoenes, Ezzat S. Elsobky, Gudrun Nürnberg, Peter Nürnberg, Saskia Seland, Inga Ebermann, Janine Altmüller et al. · 2015 · Human Molecular Genetics
- Detecting natural selection by empirical comparison to random regions of the genomeFuli Yu, Alon Keinan, Hua Chen, Russell J. Ferland, R. Sean Hill, André A. Mignault, Christopher A. Walsh, David Reich · 2009 · Human Molecular Genetics
- Evidence for an oncogenic role of AHI-1 in Sezary syndrome, a leukemic variant of human cutaneous T-cell lymphomasAshley Ringrose, Youwen Zhou, E Pang, Liang L. Zhou, Ann E.-J. Lin, G.-N. Sheng, X-J Li, Andrew P. Weng, Ming Su, Mark R. Pittelkow et al. · 2006 · Leukemia
- Developmental basis of the rostro-caudal organization of the brainstem respiratory rhythm generatorJean Champagnat, Marie Pierre Morin-Surun, Gilles Fortin, Muriel Thoby‐Brisson · 2009 · Philosophical Transactions of the Royal Society B Biological Sciences
- The Joubert Syndrome-associated Missense Mutation (V443D) in the Abelson-helper Integration Site 1 (AHI1) Protein Alters Its Localization and Protein-Protein InteractionsKarina Tuz, Yi-Chun Hsiao, Oscar X. Juárez, Bingxing Shi, Erin Yund Harmon, Ian G. Phelps, Michelle R. Lennartz, Ian A. Glass, Dan Doherty, Russell J. Ferland · 2013 · Journal of Biological Chemistry
- Absence of decussation of the superior cerebellar peduncles in patients with Joubert syndromeMaria Vittoria Spampinato, Jonathan Kraas, Bernard L. Maria, Zeke J. Walton, Zoran Rumboldt · 2008 · American Journal of Medical Genetics Part A
- Mouse Models of Rare Craniofacial DisordersAnnita Achilleos, Paul A. Trainor · 2015 · Current topics in developmental biology/Current Topics in Developmental Biology
- Huntingtin-associated Protein-1 Deficiency in Orexin-producing Neurons Impairs Neuronal Process Extension and Leads to Abnormal Behavior in MiceYung‐Feng Lin, Xingshun Xu, Austin Cape, Shihua Li, Xiao‐Jiang Li · 2010 · Journal of Biological Chemistry
- Immunohistochemical analysis of huntingtin-associated protein 1 in adult rat spinal cord and its regional relationship with androgen receptorMd Nabiul Islam, Yukio Takeshita, Akie Yanai, Imagawa Amami, Mir Rubayet Jahan, Greggory Wroblewski, Joe Nemoto, Ryutaro Fujinaga, Koh Shinoda · 2016 · Neuroscience
- The coevolution of cooperation and cognition in humansMiguel dos Santos, Stuart Andrew West · 2018 · Proceedings of the Royal Society B Biological Sciences
- Nephronophthisis-Pathobiology and Molecular Pathogenesis of a Rare Kidney Genetic DiseaseShabarni Gupta, Justyna E. Ozimek-Kulik, Jacqueline Kathleen Phillips · 2021 · Genes
- Modelling a ciliopathy: Ahi1 knockdown in model systems reveals an essential role in brain, retinal, and renal developmentRoslyn Simms, Ann Marie Hynes, Lorraine Eley, David Inglis, Bill Chaudhry, Helen R. Dawe, John Andrew Sayer · 2011 · Cellular and Molecular Life Sciences
- Excitement and confusion on chromosome 6q: the challenges of neuropsychiatric genetics in microcosmYoav Kohn, Bernard Lerer · 2005 · Molecular Psychiatry
- Development and Developmental Disorders of the Human CerebellumHans J. ten Donkelaar, Martin M. Y. Lammens, Pieter Wesseling, Akira Hori · 2014 · Springer eBooks
- The diagnostic utility of exome sequencing in Joubert syndrome and related disordersYoshinori Tsurusaki, Yasuko Kobayashi, Masataka Hisano, Shuichi Ito, Hiroshi Doi, Mitsuko Nakashima, Hirotomo Saitsu, Naomichi Matsumoto, Noriko Miyake · 2012 · Journal of Human Genetics
- Urinary Concentration Defects and Mechanisms Underlying NephronophthisisRajesh G. Krishnan, Lorraine Eley, John Andrew Sayer · 2008 · Kidney & Blood Pressure Research
- Erratum: The diagnostic utility of exome sequencing in Joubert syndrome and related disordersYoshinori Tsurusaki, Yasuko Kobayashi, Masataka Hisano, Shuichi Ito, Hiroshi Doi, Mitsuko Nakashima, Hirotomo Saitsu, Naomichi Matsumoto, Noriko Miyake · 2015 · Journal of Human Genetics
- Clinical and molecular findings in a cohort of 152 Brazilian severe early onset inherited retinal dystrophy patientsJuliana Maria Ferraz Sallum, Fabiana Louise Motta, Gavin Arno, Fernanda Belga Ottoni Porto, Rosane Guazi Resende, Rubens Belfort · 2020 · American Journal of Medical Genetics Part C Seminars in Medical Genetics
- Cognitive repercussions of hereditary cerebellar disorders.M. Manto, T. Lorivel · 2011 · Cortex; a journal devoted to the study of the nervous system and behavior
- Neural mechanisms underlying stress resilience in Ahi1 knockout mice: relevance to neuropsychiatric disordersAmit Lotan, Tzuri Lifschytz, Alexandra Slonimsky, Esther Channah Broner, Lior Greenbaum, Suzan Abedat, Yakov Fellig, Hannah R. Cohen, O Lory, Gadi Goelman et al. · 2013 · Molecular Psychiatry
- Joubert syndrome with bilateral polymicrogyria: Clinical and neuropathological findings in two brothersLucio Giordano, Aglaia Vignoli, Lorenzo Pinelli, Francesco Brancati, Patrizia Accorsi, Francesca Faravelli, Roberto Gasparotti, Tiziana Granata, Giorgio Giaccone, Francesca Inverardi et al. · 2009 · American Journal of Medical Genetics Part A
- Novel VLDLR microdeletion identified in two Turkish siblings with pachygyria and pontocerebellar atrophyLuis E. Kolb, Zülfikar Arlıer, Cengiz Yalçınkaya, Ali Kemal Ozturk, Jennifer A. Moliterno, Özdem Ertürk Çetin, Fatih Bayraklı, Barış Korkmaz, Michael L. DiLuna, Katsuhito Yasuno et al. · 2010 · Neurogenetics
- Missense mutations in the WD40 domain of AHI1 cause non-syndromic retinitis pigmentosaThanh-Minh T. Nguyen, Sarah Hull, Ronald Roepman, L. Ingeborgh van den Born, Machteld M. Oud, Erik de Vrieze, Lisette Hetterschijt, Stef J.F. Letteboer, Sylvia E. C. van Beersum, Ellen A.W. Blokland et al. · 2017 · Journal of Medical Genetics
- Characterization of the “sporadically lurking HAP1-immunoreactive (SLH) cells” in the hippocampus, with special reference to the expression of steroid receptors, GABA, and progenitor cell markersMd Nabiul Islam, Ryutaro Fujinaga, Akie Yanai, Mir Rubayet Jahan, Yukio Takeshita, Keiji Kokubu, Koh Shinoda · 2012 · Neuroscience