Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Gain-of-function mutation of KIT ligand on melanin synthesis causes familial progressive hyperpigmentation.

American journal of human genetics - 1 May 2009

Wang Zhi-Qiang, Si Lizhen, Tang Quan, Lin Debao, Fu Zhangjie, Zhang Jing, Cui Bin, Zhu Yufei, Kong Xianghua, Deng Min, Xia Yu, Xu Heng, Le Weidong, Hu Landian, Kong Xiangyin

Abstract excerpt

Familial progressive hyperpigmentation (FPH) is an autosomal-dominantly inherited disorder characterized by hyperpigmented patches in the skin, present in early infancy and increasing in size and number with age. The genetic basis for FPH remains unknown. In this study, a six-generation Chinese family with FPH was subjected to a genome-wide scan for linkage analysis. Two-point linkage analysis mapped the locus...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Chromosomes, Human, Pair 12
Share to KITLG gene

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genetic Predisposition to Disease

Share to Genome-Wide Association Study

Share to Hyperpigmentation

Share to Melanins

Share to Pedigree

Share to Stem Cell Factor

Source

Open in PubMed Open full text

Identifiers

PMID: 19375057
DOI: 10.1016/j.ajhg.2009.03.019
PMCID: PMC2680999

Genes

KIT
KITLG

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Gain-of-function mutation of KIT ligand on melanin synthesis causes familial progressive hyperpigmentation.PMID 19375057Read ↗

Identification of a novel mutation in the KITLG gene in a Chinese family with familial progressive hyper- and hypopigmentation.Semantic proximity Read ↗

KITLG mutations cause familial progressive hyper- and hypopigmentation.Semantic proximity Read ↗

Identification of a novel mutation in the KITLG gene in a Chinese family with familial progressive hyper- and hypopigmentationSemantic proximity Read ↗

De novo mutation in KITLG gene causes a variant of Familial Progressive Hyper- and Hypo-pigmentation (FPHH).Semantic proximity Read ↗

The genetic determination of skin pigmentation: KITLG and the KITLG/c-Kit pathway as key players in the onset of human familial pigmentary diseases.Semantic proximity Read ↗

[Clinical phenotype and genetic analysis of a Chinese pedigree affected with familial progressive hyperpigmentation and hypopigmentation].Semantic proximity Read ↗

New variant in KITLG shapes the pathogenesis of familial progressive hyper- and hypo-pigmentation.Semantic proximity Read ↗

Familial progressive hyper- and hypopigmentation and malignancy in two families with new mutations inKITLGSemantic proximity Read ↗

Familial progressive hyper- and hypopigmentation: a report on a Chinese family and evidence for genetic heterogeneity.Semantic proximity Read ↗

Familial progressive hyper- and hypopigmentation caused by a novel mutation in site II of the KITLG gene.Semantic proximity Read ↗

The biology of hyperpigmentation syndromesSemantic proximity Read ↗

Piebaldism with café-au-lait macules resulting from a novel mutation of KIT gene in a three-generation Chinese family.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.