April 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” p120-catenin helps control skin inflammation by regulating cadherin levels.
2 citations
,
April 2008 in “PubMed” A gene mutation causes monilethrix in a Chinese family.
153 citations
,
June 2015 in “GenomeBiology.com” The environment around the time of conception can change the VTRNA2-1 gene in a way that lasts for years and may affect disease risk.
66 citations
,
February 2013 in “PeerJ” Activating cannabinoid receptor 1 reduces certain keratin levels, potentially aiding psoriasis treatment.
166 citations
,
September 2011 in “The Journal of Cell Biology” p63 controls Satb1 to help skin develop properly.
18 citations
,
September 2018 in “The Journal of Agricultural Science” Genetic variation in the KRTAP15-1 gene affects wool yield in sheep.
12 citations
,
January 2000 in “Biochemical and Biophysical Research Communications” The study mapped keratin 15 and 19 genes, aiding future genetic disorder research.
12 citations
,
December 2003 in “Gene” The ovine Hoxc-13 gene is crucial for hair formation and may have other skin functions.
Mutations in specific genes cause different types of ectodermal dysplasias.
37 citations
,
June 2004 in “Human molecular genetics online/Human molecular genetics” The HCR gene contributes to psoriasis risk.
November 2022 in “bioRxiv (Cold Spring Harbor Laboratory)” MOF controls skin development by regulating genes for mitochondria and cilia.
30 citations
,
January 2021 in “Journal of Clinical Immunology” FOXN1 mutations can cause varying immune and physical issues, with severity influenced by gene activity and possibly other factors.
April 2026 in “Proceedings of the National Academy of Sciences” Tmem30b is essential for hearing by maintaining hair cell structure in the ear.
March 2011 in “European Urology Supplements” Gene variation affects prostate issues and hair loss.
October 2025 in “Frontiers in Medicine” Zinc supplements improved symptoms in a Uyghur infant with a rare genetic disorder affecting zinc absorption.
January 2008 in “HAL (Le Centre pour la Communication Scientifique Directe)” The mutant HR bmh protein affects hair follicle formation by failing to repress vitamin D receptor activity.
June 2005 in “Journal of Investigative Dermatology” A bull with a gene mutation was asymptomatic, synthetic retinoids cause hair loss, and new therapeutic targets were identified for skin diseases.
8 citations
,
January 2014 in “Indian Journal of Paediatric Dermatology” Congenital atrichia with papular lesions causes permanent hair loss and skin bumps from birth.
November 2023 in “Cell Proliferation” A protein from fat-derived stem cells, DKK1, is linked to hair loss and blocking it may help treat alopecia areata.
5 citations
,
October 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” The research linked PLCD1 gene variants to the development of trichilemmal cysts.
27 citations
,
April 2004 in “Biochemical and Biophysical Research Communications” Two new gene clusters important for hair formation were found on human chromosome 11.
258 citations
,
July 2005 in “Journal of lipid research” DGAT1 enzyme helps make diacylglycerols, waxes, and retinyl esters.
50 citations
,
September 2009 in “Molecular Genetics and Metabolism” A new gene mutation causes vitamin D resistance and rickets, treatable with calcium therapy.
March 2011 in “Pigment Cell & Melanoma Research” The Agouti gene influences pigmentation and may have a developmental role in deer mice.
41 citations
,
January 2015 in “Development” Atoh1 expression can create new Merkel cells in the skin.
July 2002 in “Science s STKE” Modified β-catenin causes different effects in hair and skin cells, leading to cysts or tumors.
195 citations
,
June 2005 in “American Journal of Human Genetics” Genetic variation in the androgen receptor gene mainly causes early-onset hair loss, with maternal inheritance playing a key role.
December 2022 in “Research Square (Research Square)” The QuantAnts machines can find cancer markers and create CRISPR targets for them.
December 2022 in “Curēus” Genetic testing confirmed a young girl has Atrichia with Papular Lesions due to mutations in the hairless gene.
48 citations
,
August 1998 in “Developmental Biology” Deleting part of a gene in mice causes wavy hair and high pup loss.