• Publications
  • Influence
Hermansky-Pudlak syndrome type 7 (HPS-7) results from mutant dysbindin, a member of the biogenesis of lysosome-related organelles complex 1 (BLOC-1)
Hermansky-Pudlak syndrome (HPS; MIM 203300) is a genetically heterogeneous disorder characterized by oculocutaneous albinism, prolonged bleeding and pulmonary fibrosis due to abnormal vesicleExpand
  • 376
  • 31
Epidemiology of vitiligo and associated autoimmune diseases in Caucasian probands and their families.
Generalized vitiligo is an autoimmune disorder characterized by acquired white patches of skin and overlying hair, the result of loss of melanocytes from involved areas. The most common disorder ofExpand
  • 523
  • 25
Identification and mutation analysis of the complete gene for Chediak–Higashi syndrome
Chediak-Higashi syndrome (CHS) is a rare, autosomal recessive disorder characterized by hypopigmentation, severe immunologic deficiency with neutropenia and lack of natural killer (NK) cells, aExpand
  • 485
  • 22
Slc7a11 gene controls production of pheomelanin pigment and proliferation of cultured cells.
  • S. Chintala, Wei Li, +12 authors R. Swank
  • Medicine, Biology
  • Proceedings of the National Academy of Sciences…
  • 2 August 2005
In mammals, >100 genes regulate pigmentation by means of a wide variety of developmental, cellular, and enzymatic mechanisms. Nevertheless, genes that directly regulate pheomelanin production haveExpand
  • 162
  • 18
  • PDF
Revised classification/nomenclature of vitiligo and related issues: the Vitiligo Global Issues Consensus Conference
During the 2011 International Pigment Cell Conference (IPCC), the Vitiligo European Taskforce (VETF) convened a consensus conference on issues of global importance for vitiligo clinical research. AsExpand
  • 302
  • 17
Ru2 and Ru encode mouse orthologs of the genes mutated in human Hermansky-Pudlak syndrome types 5 and 6
Hermansky-Pudlak syndrome (HPS) is a genetically heterogeneous disease involving abnormalities of melanosomes, platelet dense granules and lysosomes. Here we have used positional candidate andExpand
  • 166
  • 17
  • PDF
NALP1 in vitiligo-associated multiple autoimmune disease.
BACKGROUND Autoimmune and autoinflammatory diseases involve interactions between genetic risk factors and environmental triggers. We searched for a gene on chromosome 17p13 that contributes to aExpand
  • 517
  • 15
  • PDF
The Genome Architecture of the Collaborative Cross Mouse Genetic Reference Population
The Collaborative Cross Consortium reports here on the development of a unique genetic resource population. The Collaborative Cross (CC) is a multiparental recombinant inbred panel derived from eightExpand
  • 358
  • 15
  • PDF
Mutation of PVRL1 is associated with sporadic, non-syndromic cleft lip/palate in northern Venezuela
Non-syndromic cleft lip with or without cleft palate (CL/P, MIM 119530) is among the most common of major birth defects. Homozygosity for a nonsense mutation of PVRL1, W185X, results in an autosomalExpand
  • 194
  • 14
Mutations of PVRL1, encoding a cell-cell adhesion molecule/herpesvirus receptor, in cleft lip/palate-ectodermal dysplasia
Cleft lip, with or without cleft palate (CL/P), is one of the most common birth defects, occurring in 0.4 to 2.0 per 1,000 infants born alive. Approximately 70% of CL/P cases are non-syndromic (MIMExpand
  • 301
  • 13