Additive dominant effect of a SOX10 mutation underlies a complex phenotype of PCWH

Neurobiology of Disease

Volumn 80, Issue , 2015, Pages 1-14

  Ito, Yukiko ^a,b   Inoue, Naoko ^a   Inoue, Yukiko U ^a   Nakamura, Shoko ^a   Matsuda, Yoshiki ^c   Inagaki, Masumi ^c   Ohkubo, Takahiro ^a   Asami, Junko ^a   Terakawa, Youhei W ^a,d   Kohsaka, Shinichi ^a   Goto, Yu ichi ^a   Akazawa, Chihiro ^a,b   Inoue, Takayoshi ^a   Inoue, Ken ^a  

^a NATIONAL INSTITUTE OF NEUROSCIENCE   (Japan)

^b TOKYO MEDICAL AND DENTAL UNIVERSITY   (Japan)

^c NATIONAL INSTITUTE OF MENTAL HEALTH   (Japan)

^d GIFU UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

Author keywords

BAC transgenic mouse; Mutant SOX10; PCWH

Indexed keywords

TRANSCRIPTION FACTOR SOX10; SOX10 PROTEIN, HUMAN; TRANSCRIPTION FACTOR SOX;

ANIMAL CELL; ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; BACTERIAL ARTIFICIAL CHROMOSOME; CELL DIFFERENTIATION; CONTROLLED STUDY; DISEASE SEVERITY; EMBRYO; EVOKED BRAIN STEM AUDITORY RESPONSE; FEMALE; GENE DOSAGE; GENE MUTATION; GENETIC DISORDER; HAPLOINSUFFICIENCY; HEARING IMPAIRMENT; HISTOLOGY; INTESTINE INNERVATION; MALE; MELANOCYTE; MOUSE; NONHUMAN; OLIGODENDROGLIA; PATHOGENESIS; PERIPHERAL DEMYELINATING NEUROPATHY CENTRAL DYSMYELINATING LEUKODYSTROPHY WAARDENBURG SYNDROME AND HIRSCHSPRUNG DISEASE; PHENOTYPE; PIGMENT DISORDER; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SCHWANN CELL; SCIATIC NERVE; SKIN PIGMENTATION; SOX10 GENE; SPINAL CORD; TRANSGENE; TRANSGENIC MOUSE; ANIMAL; BRAIN; CONGENITAL MALFORMATION; CORPUS CALLOSUM; DEMYELINATING DISEASE; DISEASE MODEL; DOMINANT GENE; EMBRYOLOGY; GENETICS; HIRSCHSPRUNG DISEASE; HUMAN; NEURAL CREST; PATHOLOGY; ULTRASTRUCTURE; WAARDENBURG SYNDROME;

ANIMALS; BRAIN; CORPUS CALLOSUM; DEMYELINATING DISEASES; DISEASE MODELS, ANIMAL; GENES, DOMINANT; HAPLOINSUFFICIENCY; HIRSCHSPRUNG DISEASE; HUMANS; MICE; MICE, TRANSGENIC; NEURAL CREST; PHENOTYPE; SCHWANN CELLS; SCIATIC NERVE; SOXE TRANSCRIPTION FACTORS; WAARDENBURG SYNDROME;

EID: 84929628973     PISSN: 09699961     EISSN: 1095953X     Source Type: Journal    
DOI: 10.1016/j.nbd.2015.04.013     Document Type: Article

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