Small 6q16.1 Deletions Encompassing POU3F2 Cause Susceptibility to Obesity and Variable Developmental Delay with Intellectual Disability.
暂无分享,去创建一个
Philippe M Campeau | Tiziana Granata | Ronnie Wright | Siddharth Banka | A. Nordgren | B. Kerr | S. Banka | Philippe M. Campeau | P. Clayton | C. Pantaleoni | M. McEntagart | C. Sarret | T. Granata | Bronwyn Kerr | Peter E Clayton | Eric Glasgow | F. Sciacca | E. Guillén-Navarro | Catherine Sarret | E. Glasgow | C. Pébrel-Richard | S. Annunziata | Ann Nordgren | Meriel McEntagart | Paul R Kasher | Silvia Annunziata | A. Jackson | Katherine E Schertz | Megan Thomas | Adam Jackson | María J Ballesta-Martinez | Jennifer L Eaton | Encarna Guillén-Navarro | Cristina Hernando | Caroline E Laverriere | Agne Liedén | Olaya Villa-Marcos | Chiara Pantaleoni | Céline Pebrel-Richard | Francesca L Sciacca | M. Ballesta-Martínez | P. Kasher | K. Schertz | Megan Thomas | R. Wright | J. Eaton | C. Hernando | Caroline E. Laverriere | A. Liedén | Olaya Villa-Marcos | M. Ballesta-Martinez
[1] Gregory M. Cooper,et al. A Copy Number Variation Morbidity Map of Developmental Delay , 2011, Nature Genetics.
[2] J. Michaud,et al. ARNT2 acts as the dimerization partner of SIM1 for the development of the hypothalamus , 2000, Mechanisms of Development.
[3] E. Glasgow,et al. The zebrafish bHLH PAS transcriptional regulator, single‐minded 1 (sim1), is required for isotocin cell development , 2006, Developmental dynamics : an official publication of the American Association of Anatomists.
[4] E. Glasgow,et al. Ontogeny of vasotocin‐expressing cells in zebrafish: Selective requirement for the transcriptional regulators orthopedia and single‐minded 1 in the preoptic area , 2008, Developmental dynamics : an official publication of the American Association of Anatomists.
[5] H. Yao,et al. Oxytocin mediates early experience–dependent cross-modal plasticity in the sensory cortices , 2014, Nature Neuroscience.
[6] Stylianos E. Antonarakis,et al. Mendelian disorders deserve more attention , 2006, Nature Reviews Genetics.
[7] Pawel Stankiewicz,et al. Genomic Disorders: Molecular Mechanisms for Rearrangements and Conveyed Phenotypes , 2005, PLoS genetics.
[8] Pasko Rakic,et al. POU-III transcription factors (Brn1, Brn2, and Oct6) influence neurogenesis, molecular identity, and migratory destination of upper-layer cells of the cerebral cortex. , 2013, Cerebral cortex.
[9] L. Nguyen,et al. Proneural bHLH and Brn proteins coregulate a neurogenic program through cooperative binding to a conserved DNA motif. , 2006, Developmental cell.
[10] Beverley Balkau,et al. Loss-of-function mutations in SIM1 contribute to obesity and Prader-Willi-like features. , 2013, The Journal of clinical investigation.
[11] J. Michaud,et al. Impact of Sim1 gene dosage on the development of the paraventricular and supraoptic nuclei of the hypothalamus , 2009, The European journal of neuroscience.
[12] I. Farooqi,et al. Genetic approaches to understanding human obesity. , 2011, The Journal of clinical investigation.
[13] A. Monaco,et al. A forkhead-domain gene is mutated in a severe speech and language disorder , 2001, Nature.
[14] S. Minoshima,et al. Role of TBX1 in human del22q11.2 syndrome , 2003, The Lancet.
[15] E. Glasgow,et al. Zebrafish orthopedia (otp) is required for isotocin cell development , 2007, Development Genes and Evolution.
[16] Nancy Hopkins,et al. Insertional mutagenesis in zebrafish rapidly identifies genes essential for early vertebrate development , 2002, Nature Genetics.
[17] H. Burbano,et al. A recent evolutionary change affects a regulatory element in the human FOXP2 gene. , 2013, Molecular biology and evolution.
[18] Janice M. Fullerton,et al. Genome-wide association study reveals two new risk loci for bipolar disorder , 2014, Nature Communications.
[19] C. Kimmel,et al. Stages of embryonic development of the zebrafish , 1995, Developmental dynamics : an official publication of the American Association of Anatomists.
[20] C. S. Carter,et al. Oxytocin pathways and the evolution of human behavior. , 2014, Annual review of psychology.
[21] Kali T. Witherspoon,et al. Refining analyses of copy number variation identifies specific genes associated with developmental delay , 2014, Nature Genetics.
[22] M. Rosenfeld,et al. Transcriptional Regulation of Cortical Neuron Migration by POU Domain Factors , 2002, Science.
[23] M. Nalls,et al. Human Obesity Associated with an Intronic SNP in the Brain-Derived Neurotrophic Factor Locus. , 2015, Cell reports.
[24] A. Zinn,et al. Profound obesity associated with a balanced translocation that disrupts the SIM1 gene. , 2000, Human molecular genetics.
[25] A. Zinn,et al. Oxytocin deficiency mediates hyperphagic obesity of Sim1 haploinsufficient mice. , 2008, Molecular endocrinology.
[26] Marni J. Falk,et al. Mutations in FBXL4, encoding a mitochondrial protein, cause early-onset mitochondrial encephalomyopathy. , 2013, American journal of human genetics.
[27] Mehul Dattani,et al. Rare variants in single-minded 1 (SIM1) are associated with severe obesity. , 2013, The Journal of clinical investigation.
[28] Lydia Ng,et al. The Allen Brain Atlas , 2014 .
[29] Nga Thi Thuy Nguyen,et al. Genomicus update 2015: KaryoView and MatrixView provide a genome-wide perspective to multispecies comparative genomics , 2014, Nucleic Acids Res..
[30] Tomas W. Fitzgerald,et al. Large-scale discovery of novel genetic causes of developmental disorders , 2014, Nature.
[31] J. Kleinman,et al. Spatiotemporal transcriptome of the human brain , 2011, Nature.
[32] H. Leonard,et al. The epidemiology of mental retardation: challenges and opportunities in the new millennium. , 2002, Mental retardation and developmental disabilities research reviews.
[33] Tetsuo Noda,et al. Brn-1 and Brn-2 share crucial roles in the production and positioning of mouse neocortical neurons. , 2002, Genes & development.
[34] P. Sawchenko,et al. Development and survival of the endocrine hypothalamus and posterior pituitary gland requires the neuronal POU domain factor Brn-2. , 1995, Genes & development.
[35] G. Uhl,et al. Brain-derived neurotrophic factor and obesity in the WAGR syndrome. , 2008, The New England journal of medicine.
[36] J. Michaud,et al. Development of neuroendocrine lineages requires the bHLH-PAS transcription factor SIM1. , 1998, Genes & development.
[37] N. Carter,et al. Deciphering Developmental Disorders , 2012 .
[38] Insuk Lee,et al. Characterising and Predicting Haploinsufficiency in the Human Genome , 2010, PLoS genetics.
[39] J. Rosenfeld,et al. Genotype–phenotype correlation in interstitial 6q deletions: a report of 12 new cases , 2012, neurogenetics.
[40] D. Ledbetter,et al. Deletions of chromosome 15 as a cause of the Prader-Willi syndrome. , 1981, The New England journal of medicine.
[41] E. Glasgow,et al. Expression of isotocin-neurophysin mRNA in developing zebrafish. , 2003, Gene expression patterns : GEP.
[42] Jane Worthington,et al. Leri's pleonosteosis, a congenital rheumatic disease, results from microduplication at 8q22.1 encompassing GDF6 and SDC2 and provides insight into systemic sclerosis pathogenesis. , 2015, Annals of the rheumatic diseases.
[43] K. Jishage,et al. The POU domain transcription factor Brn-2 is required for the determination of specific neuronal lineages in the hypothalamus of the mouse. , 1995, Genes & development.
[44] J. Friedman,et al. Obesity in the new millennium , 2000, Nature.