April 2018 in “Journal of Investigative Dermatology” Dsg1 is essential for maintaining a healthy skin barrier in mice.
April 2018 in “Journal of Investigative Dermatology” IL-9 increases skin cell movement but decreases their ability to invade, and this effect is controlled by cell contractility, not by MMPs.
April 2018 in “Journal of Investigative Dermatology” The conclusion is that a new method combining magnetic tweezers and traction force microscopy may help understand skin cell interactions and diseases.
April 2018 in “Journal of Investigative Dermatology” Nonmelanoma skin cancers have higher levels of certain osteopontin variants than normal skin.
Skin changes throughout life, from development before birth to aging effects like wrinkles, influenced by both genetics and environment.
November 1983 in “American Biology Teacher” Pattern baldness is likely caused by a dominant gene influenced by testosterone levels, making it more common in men.
January 2011 in “The Chinese Journal of Dermatovenereology” Shorter GGN repeats in the androgen receptor gene are linked to androgenetic alopecia.
13 citations
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July 2024 in “BMC Genomics” New genes and markers can help breed better cashmere goats.
November 2022 in “Journal of Investigative Dermatology” Minoxidil and PRP can help convert miniaturized hair follicles back to normal in male pattern baldness.
195 citations
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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.
April 2019 in “Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature” PCOS shares similar genetic traits across different diagnosis criteria and is linked to other health conditions.
11 citations
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April 2017 in “Journal of The European Academy of Dermatology and Venereology” Found different long non-coding RNAs in balding Chinese men, which may help create new treatments.
September 2022 in “bioRxiv (Cold Spring Harbor Laboratory)” The research provided new insights into the genetic factors contributing to hair loss and skin conditions by analyzing individual cells from the human scalp.
February 2026 in “Orphanet Journal of Rare Diseases” Most genetic mutations causing hypohidrotic ectodermal dysplasia in Russian patients are found in the EDA gene.
December 2022 in “American journal of medical genetics. Part A” A person got uncombable hair syndrome from two copies of chromosome 1 from their mother.
43 citations
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April 2010 in “Clinical genetics” Truncating mutations in the C2orf37 gene cause Woodhouse–Sakati syndrome.
July 2021 in “British Journal of Dermatology” This document reported a case of a 13-year-old boy diagnosed with ectodermal dysplasia (ED) due to missing and conical-shaped teeth and abnormal hair texture. Initial genetic testing did not reveal any pathogenic variants, but later whole-genome analysis identified compound heterozygous TSPEAR variants, which are linked to autosomal recessive ED. This condition, characterized by hypodontia, conical teeth, and abnormal hair texture, had only been reported in five cases worldwide at the time. The discovery of the TSPEAR gene's role in ED highlights the importance of revisiting earlier genetic test results as new genes are discovered. The boy's affected sister also benefited from this genetic diagnosis for better management and counseling.
9 citations
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June 2024 in “BMC Genomics” Wool color in Gangba sheep is influenced by multiple genes and genetic mechanisms.
November 2022 in “Journal of Investigative Dermatology” Some people with schwannomatosis have a new type of mutation in the LZTR1 gene.
174 citations
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July 2003 in “The Journal of Clinical Endocrinology & Metabolism” Five new mutations in the androgen receptor gene were found, helping to understand androgen insensitivity syndrome better.
January 2012 in “Faculty of Health; Institute of Health and Biomedical Innovation” Early-onset hair loss is linked to Parkinson's disease and decreased fertility.
4 citations
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November 2020 in “BMC Dermatology” Researchers identified genes in scalp hair follicles that may affect hair traits and hair loss.
April 2023 in “Anatomy Physiology & Biochemistry International Journal” PCOS in Karnataka is influenced by genetics, lifestyle, obesity, and diabetes.
5 citations
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December 2018 in “Frontiers in Endocrinology” Differences in androgen receptor expression and tissue properties may lead to higher cryptorchidism risk in certain rats.
7 citations
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April 2000 in “Mammalian Genome” A new mutation in mice causes crooked whiskers and messy hair.
14 citations
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September 1999 in “Mammalian genome” The scraggly mutation causes hair loss and skin defects in mice.
18 citations
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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.
5 citations
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February 2019 in “The New England Journal of Medicine” Certain mutations in the PADI3 gene may increase the risk of developing a type of scarring hair loss common in women of African descent.
A 72-year-old man was diagnosed with a rare skin form of Rosai-Dorfman disease after years of misdiagnosis.