29 citations
,
January 1996 in “The Journal of Clinical Endocrinology & Metabolism” A genetic mutation in a specific gene causes a salt-wasting condition in a Pakistani girl and her family.
April 2018 in “Journal of Investigative Dermatology” Id2 gene helps keep hair follicle stem cells inactive.
10 citations
,
February 2019 in “Journal of cellular physiology” TGF-β2 helps yak hair follicles enter the regression phase, while HSP70 tries to prevent it.
10 citations
,
August 2023 in “The EMBO Journal” Kdm6b is crucial for skin cell differentiation.
23 citations
,
January 2011 in “International Journal of Immunopathology and Pharmacology” Minoxidil 2% effectively treats Monilethrix without side effects.
4 citations
,
January 2014 in “Indian dermatology online journal” Monilethrix is a genetic hair disorder causing fragile, beaded hair with no effective treatment.
December 2025 in “IP Indian Journal of Clinical and Experimental Dermatology” Hair shaft disorders often indicate genetic or systemic issues and are managed by minimizing damage.
September 2021 in “Mağallaẗ al-Muẖtar li-l-ʿulūm” Two sisters have rare hair disorders causing short, fragile, kinky hair.
27 citations
,
November 2007 in “Genomics” Mutations in specific keratin genes cause improper hair structure in mice due to faulty keratin protein assembly.
4 citations
,
November 2024 in “Journal of Advanced Research” Targeting NMMHC IIA may help treat blood-brain barrier damage.
10 citations
,
April 2020 in “Clinics in Dermatology” Biotin supplements improved skin and hair problems in a girl with biotinidase deficiency.
7 citations
,
August 2021 in “Open Access Macedonian Journal of Medical Sciences” The VDR gene polymorphism does not affect BDNF levels in autoimmune thyroiditis and hypothyroidism patients.
73 citations
,
December 2015 in “Nature Genetics” Mutations in TBX3 cause horses to have more even hair color instead of Dun camouflage.
44 citations
,
December 2005 in “Journal of Investigative Dermatology” Certain genetic markers, especially the MICA gene, are linked to alopecia areata.
102 citations
,
August 2008 in “Genes & Development” Laminin-511 is crucial for early hair growth and maintaining important hair development signals.
2 citations
,
August 2024 in “Molecular Genetics & Genomic Medicine” Biotin mega-dose therapy led to dramatic improvement in a newborn with a rare metabolic disorder.
53 citations
,
September 2013 in “Journal of Investigative Dermatology” Hair follicle cells help protect against immune attacks by regulating T-cell activity.
227 citations
,
January 1998 in “Journal of biological chemistry/The Journal of biological chemistry” Mutations at Val-889 and Arg-752 disrupt key interactions in the androgen receptor, affecting its function.
11 citations
,
January 1997 in “Journal of Dermatological Science” A new protein linked to hair strength was identified, aiding in understanding brittle hair conditions.
27 citations
,
April 2018 in “Scientific Reports” Psoriasis patients' immune response to a hair protein depends on their specific gene type.
81 citations
,
July 2008 in “The Journal of Clinical Endocrinology and Metabolism” Certain mutations in the H6PD gene cause Cortisone Reductase Deficiency by affecting hormone production.
March 2021 in “bioRxiv (Cold Spring Harbor Laboratory)” Removing a specific gene in certain skin cells causes hair loss on the body by disrupting normal hair development.
65 citations
,
November 2013 in “The EMBO Journal” HDAC1 is crucial for skin development and preventing tumors.
September 2025 in “OPAL (Open@LaTrobe) (La Trobe University)” 7DHC and BM15766 damage hair follicle structure and reduce key gene expression.
1 citations
,
March 2024 in “Genes & Diseases” EBF1 controls hair type and length.
2 citations
,
July 2021 in “UNC Libraries” Mutations at Val-889 and Arg-752 disrupt key interactions in androgen receptor dimerization.
27 citations
,
October 1998 in “Differentiation” Basonuclin helps identify and track hair follicle development and cycling in mice.
April 2018 in “bioRxiv (Cold Spring Harbor Laboratory)” A gene variant causes patched hair loss in mice, similar to alopecia areata in humans.
9 citations
,
November 2007 in “Blood” TMPRSS6 is crucial for controlling hepcidin and normal iron absorption.
21 citations
,
January 2018 in “Anticancer Research” NBCCS and BFHS might be the same syndrome, helping better identify and manage cases.