|
Piebaldism
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
These data reveal an aberrant function and intracellular localization of mutant KIT protein in piebaldism.
|
29631773 |
2018 |
|
Piebaldism
|
1.000 |
GermlineCausalMutation
|
disease |
ORPHANET |
A novel mutation of KIT gene results in piebaldism in a Chinese family.
|
25199540 |
2016 |
|
Piebaldism
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Our results provide additional support that mutations in the tyrosine kinase domain of the KIT gene are responsible for the severe form of piebaldism.
|
25910686 |
2015 |
|
Piebaldism
|
1.000 |
Biomarker
|
disease |
BEFREE |
The proposita also did not have piebaldism suggesting again that piebaldism arises from a mechanism more complex than simple haploinsufficiency of KIT.
|
25355368 |
2015 |
|
Piebaldism
|
1.000 |
GermlineCausalMutation
|
disease |
ORPHANET |
Piebaldism.
|
22670867 |
2013 |
|
Piebaldism
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
A novel mutation of the KIT gene in a Chinese family with piebaldism.
|
23786947 |
2013 |
|
Piebaldism
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The data of this study and others suggests that the KIT mutation may causes of the auburn hair color in the piebaldism patients.
|
24000325 |
2013 |
|
Piebaldism
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
A novel complex mutation in the KIT gene was identified in several family members affected with piebaldism; the proband meeting diagnostic criteria for NF1 also underwent comprehensive NF1 and SPRED1 testing with no mutations detected.
|
22438235 |
2012 |
|
Piebaldism
|
1.000 |
Biomarker
|
disease |
MGD |
Identification of a novel nonsense mutation on the Pax3 gene in ENU-derived white belly spotting mice and its genetic interaction with c-Kit.
|
20095975 |
2010 |
|
Piebaldism
|
1.000 |
Biomarker
|
disease |
BEFREE |
This study contributes to the database on KIT in piebaldism and enriches the knowledge about the genotype/phenotype correlation.
|
19430803 |
2009 |
|
Piebaldism
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
In humans, germline loss-of-function KIT mutations have been associated with piebaldism - an autosomal dominant condition characterized by depigmented patches of skin and hair.
|
18566536 |
2008 |
|
Piebaldism
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
These results are consistent with the previous hypothesis that progressive piebaldism might result from digenic inheritance, of the KIT(V620A) mutation that causes piebaldism and a second, unknown locus that causes progressive depigmentation.
|
16619012 |
2006 |
|
Piebaldism
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Despite showing no pigmentary abnormalities, the proband was found to harbor the same KIT mutation as her relatives affected by piebaldism, as well as two mutations in the SLC26A4 gene.
|
15099345 |
2004 |
|
Piebaldism
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We have studied 10 individuals within six piebaldism families and able to identify six novel mutations in the KIT gene in patients with piebaldism.
|
15194144 |
2004 |
|
Piebaldism
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We screened three families and three isolated cases of piebaldism from different countries for mutations in the KIT gene using automated sequencing methods.
|
12204004 |
2002 |
|
Piebaldism
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Although other KIT mutations in the vicinity of codon 620 lead to the standard phenotype of static piebaldism, the Val620Ala mutation is novel and may result in a previously undescribed phenotype with melanocyte instability, leading to progressive loss of pigmentation as well as the progressive appearance of the hyperpigmented macules.
|
11174389 |
2001 |
|
Piebaldism
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Three novel mutations of the proto-oncogene KIT cause human piebaldism.
|
11074500 |
2000 |
|
Piebaldism
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Activating and dominant inactivating c-KIT catalytic domain mutations in distinct clinical forms of human mastocytosis.
|
9990072 |
1999 |
|
Piebaldism
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Thus, the occurrence of sensorineural deafness in this patient extends considerably the phenotypic range of piebaldism due to KIT gene mutation in humans and tightens the clinical similarity between piebaldism and the various forms of Waardenburg syndrome.
|
9450866 |
1998 |
|
Piebaldism
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Thus, the occurrence of sensorineural deafness in this patient extends considerably the phenotypic range of piebaldism due to KIT gene mutation in humans and tightens the clinical similarity between piebaldism and the various forms of Waardenburg syndrome.
|
9450866 |
1998 |
|
Piebaldism
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
A novel KIT gene missense mutation in a Japanese family with piebaldism.
|
9699740 |
1998 |
|
Piebaldism
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the ligand-binding domain of the kit receptor: an uncommon site in human piebaldism.
|
8875953 |
1996 |
|
Piebaldism
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
Different hypomelanotic lesions can thus be differentiated by absent melanocyte c-kit protein and low or no expression of melanosomal marker in piebaldism, normal c-kit but low melanosome expression in naevus depigmentosus, and the absence of all melanocyte markers in vitiligo.
|
7534102 |
1995 |
|
Piebaldism
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
A 12-bp deletion (7818del12) in the c-kit protooncogene in a large Italian kindred with piebaldism.
|
8680409 |
1995 |
|
Piebaldism
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We report four unrelated patients with piebaldism and consider the variations in phenotype in relation to the site of the kit gene mutation.
|
7544995 |
1995 |