Human piebaldism: relationship between phenotype and site of kit gene mutation

The British Journal of Dermatology
K A WardD S Sanders

Abstract

Human piebaldism is a rare autosomal dominant disorder characterized by congenital depigmented patches of skin and hair. Piebaldism results from mutations of the kit proto-oncogene, which encodes a cell-surface receptor, tyrosine kinase, whose ligand is the stem/mast cell growth factor. We report four unrelated patients with piebaldism and consider the variations in phenotype in relation to the site of the kit gene mutation.

References

Jun 1, 1992·Developmental Biology·D E WilliamsS D Lyman
Oct 5, 1990·Cell·D E WilliamsH S Boswell
Oct 1, 1991·Proceedings of the National Academy of Sciences of the United States of America·L B Giebel, R A Spritz
Dec 1, 1991·Proceedings of the National Academy of Sciences of the United States of America·R A FleischmanS Zneimer
May 1, 1991·Clinical Genetics·I WinshipP Beighton
Apr 20, 1990·Cell·A Ullrich, J Schlessinger
Sep 1, 1987·Journal of Medical Genetics·M A HulténM J Tarlow
Jul 1, 1993·The Journal of Investigative Dermatology·R A SpritzW Küster

❮ Previous
Next ❯

Citations

Dec 22, 1999·Microscopy Research and Technique·J M Vanderwinden, J J Rumessen
Sep 5, 2003·American Journal of Medical Genetics. Part a·Manuel Sánchez-MartínI Sánchez-García
Nov 14, 2000·American Journal of Medical Genetics·P SyrrisK Metcalfe
Apr 22, 2004·The British Journal of Dermatology·L GuerraM De Luca
May 12, 2009·Archives of Dermatological Research·Xian-Yong YinXue-Jun Zhang
Nov 17, 2006·The British Journal of Dermatology·Z-M LinY Yang
Oct 16, 2004·International Journal of Dermatology·Isabelle ThomasRobert A Schwartz
Nov 7, 2008·International Journal of Dermatology·Virendra N Sehgal, Govind Srivastava
Sep 26, 2020·American Journal of Medical Genetics. Part a·Sara MirhadiCelia Moss
Feb 15, 2005·Clinics in Dermatology·Thierry PasseronJean-Paul Ortonne

❮ Previous
Next ❯

Related Concepts

Trending Feeds

COVID-19

Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.

Blastomycosis

Blastomycosis fungal infections spread through inhaling Blastomyces dermatitidis spores. Discover the latest research on blastomycosis fungal infections here.

Nuclear Pore Complex in ALS/FTD

Alterations in nucleocytoplasmic transport, controlled by the nuclear pore complex, may be involved in the pathomechanism underlying multiple neurodegenerative diseases including Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. Here is the latest research on the nuclear pore complex in ALS and FTD.

Applications of Molecular Barcoding

The concept of molecular barcoding is that each original DNA or RNA molecule is attached to a unique sequence barcode. Sequence reads having different barcodes represent different original molecules, while sequence reads having the same barcode are results of PCR duplication from one original molecule. Discover the latest research on molecular barcoding here.

Chronic Fatigue Syndrome

Chronic fatigue syndrome is a disease characterized by unexplained disabling fatigue; the pathology of which is incompletely understood. Discover the latest research on chronic fatigue syndrome here.

Evolution of Pluripotency

Pluripotency refers to the ability of a cell to develop into three primary germ cell layers of the embryo. This feed focuses on the mechanisms that underlie the evolution of pluripotency. Here is the latest research.

Position Effect Variegation

Position Effect Variagation occurs when a gene is inactivated due to its positioning near heterochromatic regions within a chromosome. Discover the latest research on Position Effect Variagation here.

STING Receptor Agonists

Stimulator of IFN genes (STING) are a group of transmembrane proteins that are involved in the induction of type I interferon that is important in the innate immune response. The stimulation of STING has been an active area of research in the treatment of cancer and infectious diseases. Here is the latest research on STING receptor agonists.

Microbicide

Microbicides are products that can be applied to vaginal or rectal mucosal surfaces with the goal of preventing, or at least significantly reducing, the transmission of sexually transmitted infections. Here is the latest research on microbicides.

Related Papers

The Journal of Investigative Dermatology
Richard A Spritz
Proceedings of the National Academy of Sciences of the United States of America
L B Giebel, Richard A Spritz
© 2021 Meta ULC. All rights reserved