February 2026 in “Orphanet Journal of Rare Diseases” Most genetic mutations causing hypohidrotic ectodermal dysplasia in Russian patients are found in the EDA gene.
127 citations
,
July 2002 in “EMBO journal” Normal skin cell renewal doesn't need RAR signaling, but vitamin A-related skin thickening does.
18 citations
,
October 2009 in “Endocrinology” Different Hairless isoforms affect Vitamin D receptor activity in hair regulation, with one repressing and the other stimulating it.
18 citations
,
August 2018 in “The FASEB journal” Rabbits lacking the Hoxc13 gene show similar hair and skin issues to humans with ECTD-9, making them good for research on this condition.
17 citations
,
October 2003 in “Brazilian Journal of Medical and Biological Research” The gene SDR5A1 is found in scalp hair of both hirsute and normal individuals, but it does not explain differences in hair growth.
2 citations
,
September 2021 in “F1000Research” The ABCG2 gene variant increases the risk of high uric acid and cholesterol, especially in overweight or obese young Mexican males.
57 citations
,
January 1987 in “Journal of Biological Chemistry” Different keratins have unique expression patterns in mouse skin cells.
341 citations
,
November 2009 in “The FASEB Journal” Calreticulin has roles in healing, immune response, and disease beyond its known functions in the endoplasmic reticulum.
A new compound from Royoporus badius activates immune cells and induces inflammatory responses.
68 citations
,
August 2009 in “American Journal of Medical Genetics Part A” A new classification for trichothiodystrophy helps identify genetic causes and potential treatments.
59 citations
,
November 2002 in “Pediatric Dermatology” A 19-month-old Saudi girl had a rare skin condition with no other defects, and her family was unaffected.
20 citations
,
June 2007 in “Recent Patents on Endocrine, Metabolic & Immune Drug Discovery” Certain inhibitors can potentially treat prostate cancer and other hormone-dependent conditions by controlling sex hormone levels in cells.
mEphA1 receptor tyrosine kinase is important for skin and hair development and may play a role in certain diseases.
94 citations
,
July 2020 in “European Journal of Human Genetics” The guidelines ensure accurate genetic testing and reporting for 21-hydroxylase deficiency.
The balance between cell renewal and differentiation controls the growth of cancerous cells in mouse skin.
4 citations
,
January 2018 in “International Journal of Trichology” A rare genetic disease causes sparse hair and early blindness due to a gene mutation.
April 2024 in “bioRxiv (Cold Spring Harbor Laboratory)” A gene network led by RSL4 is crucial for early root hair growth in response to cold in Arabidopsis thaliana.
2 citations
,
February 2023 in “Transgenic Research” The E2 protein affects gene activity in hair follicles of mice.
215 citations
,
September 2003 in “Journal of Biological Chemistry” Vitamin D receptor and hairless protein are essential for hair growth.
17 citations
,
November 2017 in “Asian-Australasian journal of animal sciences” Certain gene mutations are linked to wool quality in sheep and could help in breeding for better wool.
February 2025 in “Journal of Clinical Investigation” RNase L hinders hair growth by altering immune signals.
1 citations
,
August 2023 in “Journal of Investigative Dermatology” Farudodstat may help treat alopecia areata by protecting hair follicles.
6 citations
,
April 2012 in “Journal of Oral Pathology and Medicine” Rushton's hyaline bodies form from hair keratin and blood substances.
August 2015 in “International Journal of Genetics and Molecular Biology” Certain genetic markers may increase or decrease prostate cancer risk.
November 2023 in “Frontiers in pharmacology” Drug repositioning offers hope for new, affordable treatments for a genetic skin disorder called ARCI.
January 2004 in “Drug Development and Industrial Pharmacy” GI197111X is best dissolved in Capmul MCM for trials.
9 citations
,
November 2007 in “Blood” TMPRSS6 is crucial for controlling hepcidin and normal iron absorption.
15 citations
,
April 2017 in “Hormones” Genetic defects in the glucocorticoid receptor gene can cause conditions with abnormal sensitivity to stress hormones, and other factors may also affect this sensitivity.
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.
April 2017 in “Journal of Investigative Dermatology” Reduced Stx17 expression may contribute to Alopecia Areata.