8 citations
,
April 2017 in “Journal of The Royal Society Interface” Giant axonal neuropathy changes the structure of keratin in human hair.
99 citations
,
March 2013 in “Journal of Investigative Dermatology” Mutations in the ABCB6 gene cause Dyschromatosis Universalis Hereditaria.
76 citations
,
April 2005 in “Cancer Epidemiology, Biomarkers & Prevention” E211 G>A gene linked to lower risk of severe prostate cancer and hair loss.
101 citations
,
November 2019 in “The Plant Cell” AtZP1 protein stops root hair growth in plants by blocking certain genes.
October 2014 in “Cancer research” Blocking mTORC1 reduces skin tumor growth in mice.
15 citations
,
August 2022 in “The Application of Clinical Genetics” ABCD1 gene mutations cause adrenomyeloneuropathy, leading to symptoms like limb weakness and spasticity, with management focusing on rehabilitation and spasticity treatment.
April 2016 in “Journal of Investigative Dermatology” Double-stranded RNA activates a pathway that causes a skin protein to be expressed in the wrong place.
8 citations
,
May 2017 in “IUBMB life” Astrotactin proteins are important for brain and skin development and are linked to several neurodevelopmental disorders.
April 2020 in “International journal of research in dermatology” An 8-year-old girl has a rare, irreversible hair loss condition caused by a genetic mutation.
55 citations
,
October 2015 in “Journal of Investigative Dermatology” Alopecia areata is linked to immune-related genes, suggesting JAK inhibitors as a potential treatment.
29 citations
,
January 2003 in “Genomics” A new mouse mutation causes skin and hair issues, influenced by another gene.
1 citations
,
September 2020 in “Journal of Dermatological Science” The gene LRRC15 is more active in balding areas of the scalp compared to non-balding areas.
2 citations
,
September 2020 in “Biomedical materials” Recombinant keratin materials may better promote skin cell differentiation than natural keratin.
41 citations
,
April 2009 in “Journal of comparative neurology” P2X3-IR fibers are widespread in rat skin and likely help detect pain.
19 citations
,
July 1997 in “British Journal of Dermatology” LHTric-1 is a specific antibody useful for studying hair and nail formation.
198 citations
,
October 1986 in “Differentiation” 54 citations
,
January 1995 in “Human Molecular Genetics” Monilethrix is linked to a gene cluster on chromosome 12.
1 citations
,
March 2023 in “Frontiers in Cardiovascular Medicine” A specific gene variant is linked to heart disease, increased heart muscle, curly hair, and thick skin on palms and soles.
6 citations
,
January 2011 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” An 11-year-old Greek girl was diagnosed with a rare genetic disorder, highlighting the importance of genetic testing and family history.
9 citations
,
June 2023 in “Human Genomics” MX1 and AR genes are linked to milder COVID-19, while TMPRSS2 increases severe risk, especially in women.
December 2025 in “International Journal of Surgery” GBP1 is a key target for treating Epstein-Barr virus-related kidney cancer, and finasteride may help.
14 citations
,
April 2019 in “Genes” Researchers found a genetic region that influences the number of coat layers in dogs.
September 1997 in “Clinical and Experimental Dermatology” 15 citations
,
October 1999 in “PubMed” Understanding genes and mutations can lead to new treatments for hair loss disorders.
August 2023 in “Journal of Investigative Dermatology” Different body areas have unique skin cell communication patterns, explaining why certain skin diseases occur in specific regions.
January 2026 in “Animal Genetics” A genetic variant in the GJB6 gene likely caused the Labrador's paw pad condition.
July 2024 in “Egyptian Journal of Medical Human Genetics” These gene variations are not linked to alopecia areata in Egyptians.
12 citations
,
February 1998 in “Gene” The B2 genes are crucial for hair growth in rats.
14 citations
,
May 2017 in “Journal of Investigative Dermatology” A rare gene mutation causes skin fragility and itching without affecting hair or nails.
294 citations
,
February 2011 in “Cell” Nephronectin helps attach muscle cells to hair follicles.