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Cell reports, v.10 no.9, 2015년, pp.1585 - 1598
Almuriekhi, M. , Shintani, T. , Fahiminiya, S. , Fujikawa, A. , Kuboyama, K. , Takeuchi, Y. , Nawaz, Z. , Nadaf, J. , Kamel, H. , Kitam, A. , Samiha, Z. , Mahmoud, L. , Ben-Omran, T. , Majewski, J. , Noda, M.
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Sotos syndrome, characterized by intellectual disability and characteristic facial features, is caused by haploinsufficiency in the NSD1 gene. We conducted an etiological study on two siblings with Sotos features without mutations in NSD1 and detected a homozygous frameshift mutation in the APC2 gen...
Am. J. Med. Genet. A. Allanson 149A 6 2009 10.1002/ajmg.a.32612 Elements of morphology: standard terminology for the head and face
Neuron Baek 82 1255 2014 10.1016/j.neuron.2014.04.036 Off-target effect of doublecortin family shRNA on neuronal migration associated with endogenous microRNA dysregulation
Orphanet J. Rare Dis. Baujat 2 36 2007 10.1186/1750-1172-2-36 Sotos syndrome
Proc. Natl. Acad. Sci. USA Berdasco 106 21830 2009 10.1073/pnas.0906831106 Epigenetic inactivation of the Sotos overgrowth syndrome gene histone methyltransferase NSD1 in human neuroblastoma and glioma
Am. J. Med. Genet. A. Cecconi 134 247 2005 10.1002/ajmg.a.30492 Mutation analysis of the NSD1 gene in a group of 59 patients with congenital overgrowth
J. Med. Genet. Cole 31 20 1994 10.1136/jmg.31.1.20 Sotos syndrome: a study of the diagnostic criteria and natural history
J. Med. Genet. Cole 29 332 1992 10.1136/jmg.29.5.332 Weaver syndrome
Am. J. Hum. Genet. Douglas 72 132 2003 10.1086/345647 NSD1 mutations are the major cause of Sotos syndrome and occur in some cases of Weaver syndrome but are rare in other overgrowth phenotypes
Clin. Genet. Fahiminiya 86 134 2014 10.1111/cge.12280 Whole exome sequencing unravels disease-causing genes in consanguineous families in Qatar
Cell Gleeson 92 63 1998 10.1016/S0092-8674(00)80899-5 Doublecortin, a brain-specific gene mutated in human X-linked lissencephaly and double cortex syndrome, encodes a putative signaling protein
Nat. Genet. Jaglin 41 746 2009 10.1038/ng.380 Mutations in the β-tubulin gene TUBB2B result in asymmetrical polymicrogyria
Cell Keays 128 45 2007 10.1016/j.cell.2006.12.017 Mutations in α-tubulin cause abnormal neuronal migration in mice and lissencephaly in humans
Ann Pediatr Endocrinol Metab Ko 18 101 2013 10.6065/apem.2013.18.3.101 Genetic syndromes associated with overgrowth in childhood
Nat. Genet. Kurotaki 30 365 2002 10.1038/ng863 Haploinsufficiency of NSD1 causes Sotos syndrome
Curr. Neurol. Neurosci. Rep. Liu 11 171 2011 10.1007/s11910-010-0176-5 Molecular genetics of neuronal migration disorders
Am. J. Hum. Genet. Malan 87 189 2010 10.1016/j.ajhg.2010.07.001 Distinct effects of allelic NFIX mutations on nonsense-mediated mRNA decay engender either a Sotos-like or a Marshall-Smith syndrome
J. Med. Genet. McDonald-McGinn 50 80 2013 10.1136/jmedgenet-2012-101320 Hemizygous mutations in SNAP29 unmask autosomal recessive conditions and contribute to atypical findings in patients with 22q11.2DS
J. Pathol. Midgley 181 426 1997 10.1002/(SICI)1096-9896(199704)181:4<426::AID-PATH768>3.0.CO;2-T APC expression in normal human tissues
J. Cell Biol. Mimori-Kiyosue 148 505 2000 10.1083/jcb.148.3.505 Adenomatous polyposis coli (APC) protein moves along microtubules and concentrates at their growing ends in epithelial cells
EMBO J. Rayasam 22 3153 2003 10.1093/emboj/cdg288 NSD1 is essential for early post-implantation development and has a catalytically active SET domain
Nature Reiner 364 717 1993 10.1038/364717a0 Isolation of a Miller-Dieker lissencephaly gene containing G protein beta-subunit-like repeats
Am. J. Med. Genet. Schaefer 68 462 1997 10.1002/(SICI)1096-8628(19970211)68:4<462::AID-AJMG18>3.0.CO;2-Q The neuroimaging findings in Sotos syndrome
Hum. Mol. Genet. Sheen 10 1775 2001 10.1093/hmg/10.17.1775 Mutations in the X-linked filamin 1 gene cause periventricular nodular heterotopia in males as well as in females
J. Neurosci. Shintani 29 11628 2009 10.1523/JNEUROSCI.2394-09.2009 APC2 plays an essential role in axonal projections through the regulation of microtubule stability
J. Neurosci. Shintani 32 6468 2012 10.1523/JNEUROSCI.0590-12.2012 Directional neuronal migration is impaired in mice lacking adenomatous polyposis coli 2
N. Engl. J. Med. Sotos 271 109 1964 10.1056/NEJM196407162710301 Cerebral gigantism in childhood. A syndrome of excessively rapid growth and acromegalic features and a nonprogressive neurologic disorder
Am. J. Med. Genet. C. Semin. Med. Genet. Tatton-Brown 163C 86 2013 10.1002/ajmg.c.31359 The NSD1 and EZH2 overgrowth genes, similarities and differences
Am. J. Hum. Genet. Tatton-Brown 77 193 2005 10.1086/432082 Genotype-phenotype associations in Sotos syndrome: an analysis of 266 individuals with NSD1 aberrations
Tatton-Brown 2012 Sotos Syndrome
Pediatr. Endocrinol. Rev. Visser 6 375 2009 Overgrowth syndromes:from classical to new
J. Pediatr. Weaver 84 547 1974 10.1016/S0022-3476(74)80675-X A new overgrowth syndrome with accelerated skeletal maturation, unusual facies, and camptodactyly
Adv. Exp. Med. Biol. Wu 800 25 2014 10.1007/978-94-007-7687-6_2 The dynamics of neuronal migration
Horm. Behav. Xu 59 383 2011 10.1016/j.yhbeh.2010.08.019 Reversible histone methylation regulates brain gene expression and behavior
J. Hum. Genet. Yoneda 57 207 2012 10.1038/jhg.2012.7 Missense mutations in the DNA-binding/dimerization domain of NFIX cause Sotos-like features
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