3 citations
,
December 2022 in “The Neurologist” CARASIL, a rare genetic disorder, was confirmed in an Arabic woman, highlighting its rarity and need for stroke prevention.
3 citations
,
February 2001 in “British journal of ophthalmology” An Australian with rare hair loss and eye conditions had a gene linked to both, not seen together before.
5 citations
,
June 2015 in “The Journal of Dermatology” HTLV-1-associated lichenoid dermatitis (HALD) is linked to an immune response against HTLV-1-infected cells.
November 2020 in “Journal of The American Academy of Dermatology” The conclusion is that many small genetic variations influence claw disorders in cows, and using genomic selection could help reduce these disorders.
March 2026 in “World Rabbit Science” DKK4 can be used to improve wool quality in Zhexi Angora rabbits.
3 citations
,
September 2013 in “Journal of the American Academy of Dermatology” A new genetic mutation linked to Hutchinson-Gilford progeria syndrome was found in China.
76 citations
,
January 1998 in “Mammalian Genome”
January 2008 in “The Year book of endocrinology” Gene variant linked to prostate cancer, hormone levels, and hair loss.
10 citations
,
May 2017 in “Wound Repair and Regeneration” Overexpression of ALK2 in hair follicles disrupts skin development and slows wound healing.
November 2025 in “Journal of Investigative Dermatology” A new genetic mutation causing Xeroderma Pigmentosum was found in an 8-year-old girl, affecting her DNA repair.
9 citations
,
March 2020 in “Gene” Certain gene variants in estrogen receptors are linked to polycystic ovary syndrome, mainly affecting metabolism, in Tunisian women.
4 citations
,
February 2015 in “Journal of Clinical Laboratory Analysis” A genetic variant in the androgen receptor gene increases heart disease risk in women but not in men.
April 2017 in “Journal of Investigative Dermatology” Certain mutations in the KLHL24 gene cause a skin disorder by breaking down an important skin protein.
30 citations
,
June 2014 in “Seminars in Immunology” Future research on ectodysplasin should explore its role in diseases, stem cells, and evolution, and continue developing treatments for genetic disorders like hypohidrotic ectodermal dysplasia.
The trichohyalin gene is located at chromosomal region 1q21 with other skin-related protein genes.
January 2011 in “The Chinese Journal of Dermatovenereology” Shorter GGN repeats in the androgen receptor gene are linked to androgenetic alopecia.
17 citations
,
May 2007 in “British Journal of Dermatology” Gomez–Lopez–Hernandez syndrome can cause focal hair loss and developmental delays but some children can still function well and excel in school and sports.
52 citations
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October 1999 in “Developmental Dynamics” Mutations in the hairless gene in mice affect its expression and lead to a range of developmental issues in multiple tissues.
September 2018 in “Journal of the American Academy of Dermatology” Elderly patients with CCCA were all African American with low vitamin D, but no iron or zinc deficiencies, and no hormonal imbalances compared to younger patients.
27 citations
,
May 2011 in “Journal of Investigative Dermatology” TCHHL1 is a protein important for hair growth, found in hair follicles.
44 citations
,
April 2013 in “Proceedings of the National Academy of Sciences of the United States of America” FGF13 gene changes cause excessive hair growth in a rare condition.
3 citations
,
April 2015 in “AFRICAN JOURNAL OF BIOTECHNOLOGY” Certain genetic markers on the Y-chromosome may influence prostate cancer risk in Iraqi males.
Recognizing mild or atypical cases of ectodermal dysplasia is crucial for better treatment and future planning.
August 2016 in “Journal of the American Academy of Dermatology” The infant likely has Hay-Wells syndrome and needs genetic testing and heart screening.
1 citations
,
April 2017 in “Journal of Investigative Dermatology” CCL5 is important for the hair growth potential of human dermal papilla cells.
Researchers found a genetic link for hereditary hair loss but need more analysis to identify the exact gene.
29 citations
,
January 2003 in “Genomics” A new mouse mutation causes skin and hair issues, influenced by another gene.
July 2025 in “Journal of Investigative Dermatology” Reduced AhR signaling in HS tunnels leads to persistent inflammation and microbial imbalance.
2 citations
,
October 2023 in “Philosophical Transactions of the Royal Society B Biological Sciences” Different PADI isoforms help cells develop diverse functions.
21 citations
,
January 2018 in “Anticancer Research” NBCCS and BFHS might be the same syndrome, helping better identify and manage cases.