Literature DB >> 1552554

Splotch locus mouse mutants: models for neural tube defects and Waardenburg syndrome type I in humans.

C E Moase1, D G Trasler.   

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Year:  1992        PMID： 1552554      PMCID： PMC1015886          DOI： 10.1136/jmg.29.3.145

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


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  53 in total

1.  Molecular characterization of a deletion encompassing the splotch mutation on mouse chromosome 1.

Authors:  D J Epstein; D Malo; M Vekemans; P Gros
Journal:  Genomics       Date:  1991-05       Impact factor: 5.736

2.  Waardenburg syndrome (WS): the analysis of a single family with a WS1 mutation showing linkage to RFLP markers on human chromosome 2q.

Authors:  J H Asher; R Morell; T B Friedman
Journal:  Am J Hum Genet       Date:  1991-01       Impact factor: 11.025

3.  Gap junctional vesicles in the neural tube of the splotch (Sp) mutant mouse.

Authors:  D B Wilson; L A Finta
Journal:  Teratology       Date:  1979-06

4.  Delayed neural crest cell emigration from Sp and Spd mouse neural tube explants.

Authors:  C E Moase; D G Trasler
Journal:  Teratology       Date:  1990-08

5.  Defective ensheathment of motoric nerves in the Splotch mutant mouse.

Authors:  T Franz
Journal:  Acta Anat (Basel)       Date:  1990

6.  Abnormalities of neural tube formation in pre-spina bifida splotch-delayed mouse embryos.

Authors:  X M Yang; D G Trasler
Journal:  Teratology       Date:  1991-06

7.  Assignment of the locus for Waardenburg syndrome type I to human chromosome 2q37 and possible homology to the Splotch mouse.

Authors:  C Foy; V Newton; D Wellesley; R Harris; A P Read
Journal:  Am J Hum Genet       Date:  1990-06       Impact factor: 11.025

8.  Immunohistochemical localization of chondroitin and heparan sulfate proteoglycans in pre-spina bifida splotch mouse embryos.

Authors:  D G Trasler; G Morriss-Kay
Journal:  Teratology       Date:  1991-11

9.  Neural tube defects in curly-tail mice. II. Effect of maternal administration of vitamin A.

Authors:  M J Seller; S Embury; P E Polani; M Adinolfi
Journal:  Proc R Soc Lond B Biol Sci       Date:  1979-11-30

10.  Pax-3, a novel murine DNA binding protein expressed during early neurogenesis.

Authors:  M D Goulding; G Chalepakis; U Deutsch; J R Erselius; P Gruss
Journal:  EMBO J       Date:  1991-05       Impact factor: 11.598
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  9 in total

1.  TBX2 expression is regulated by PAX3 in the melanocyte lineage.

Authors:  Fang Liu; Juxiang Cao; Jinghu Lv; Liang Dong; Eric Pier; George X Xu; Rui-an Wang; Zhixiang Xu; Colin Goding; Rutao Cui
Journal:  Pigment Cell Melanoma Res       Date:  2012-11-21       Impact factor: 4.693

2.  PAX genes and human neural tube defects: an amino acid substitution in PAX1 in a patient with spina bifida.

Authors:  F A Hol; M P Geurds; S Chatkupt; Y Y Shugart; R Balling; C T Schrander-Stumpel; W G Johnson; B C Hamel; E C Mariman
Journal:  J Med Genet       Date:  1996-08       Impact factor: 6.318

3.  Isolation of two isoforms of the PAX3 gene transcripts and their tissue-specific alternative expression in human adult tissues.

Authors:  K Tsukamoto; Y Nakamura; N Niikawa
Journal:  Hum Genet       Date:  1994-03       Impact factor: 4.132

4.  A frameshift mutation in the gene for PAX3 in a girl with spina bifida and mild signs of Waardenburg syndrome.

Authors:  F A Hol; B C Hamel; M P Geurds; R A Mullaart; F G Barr; R A Macina; E C Mariman
Journal:  J Med Genet       Date:  1995-01       Impact factor: 6.318

5.  Analysis of the mouse Splotch-delayed mutation indicates that the Pax-3 paired domain can influence homeodomain DNA-binding activity.

Authors:  D A Underhill; K J Vogan; P Gros
Journal:  Proc Natl Acad Sci U S A       Date:  1995-04-25       Impact factor: 11.205

6.  A mutation within intron 3 of the Pax-3 gene produces aberrantly spliced mRNA transcripts in the splotch (Sp) mouse mutant.

Authors:  D J Epstein; K J Vogan; D G Trasler; P Gros
Journal:  Proc Natl Acad Sci U S A       Date:  1993-01-15       Impact factor: 11.205

7.  Waardenburg syndrome and myelomeningocele in a family.

Authors:  S Chatkupt; S Chatkupt; W G Johnson
Journal:  J Med Genet       Date:  1993-01       Impact factor: 6.318

8.  Absence of linkage between familial neural tube defects and PAX3 gene.

Authors:  S Chatkupt; F A Hol; Y Y Shugart; M P Geurds; E S Stenroos; M R Koenigsberger; B C Hamel; W G Johnson; E C Mariman
Journal:  J Med Genet       Date:  1995-03       Impact factor: 6.318

9.  The negative influence of high-glucose ambience on neurogenesis in developing quail embryos.

Authors:  Yao Chen; Jian-xia Fan; Zhao-long Zhang; Guang Wang; Xin Cheng; Manli Chuai; Kenneth Ka Ho Lee; Xuesong Yang
Journal:  PLoS One       Date:  2013-06-20       Impact factor: 3.240
  9 in total

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