September 2025 in “Journal of the American Academy of Dermatology” Ritlecitinib may help treat alopecia areata by protecting hair follicles.
2 citations
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August 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” A specific mutation in the K25 gene causes a rare genetic disorder with curly hair at birth and later hair loss, along with dental issues.
1 citations
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April 2021 in “IntechOpen eBooks” The PCR technique can identify genetic differences in a wool-related gene among different sheep breeds, which may help improve wool and pelt quality.
1 citations
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August 2024 in “Animals” KRT85 gene variations can help improve wool traits in sheep through selective breeding.
January 2022 in “bioRxiv (Cold Spring Harbor Laboratory)” Skin lesions in Carney complex are likely caused by a specific group of skin cells that promote pigment production due to a genetic mutation.
39 citations
,
July 1997 in “American Journal of Medical Genetics” The gene for Clouston syndrome in a large Indian family is located in the 13q11-q12.1 region.
7 citations
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January 2025 in “Journal of Experimental & Clinical Cancer Research” PRMT5 inhibitors effectively fight adenoid cystic carcinoma in salivary glands.
25 citations
,
January 2000 in “Hormone Research in Paediatrics” Mutations in the androgen receptor gene cause Androgen Insensitivity Syndrome, affecting sexual development.
12 citations
,
February 2021 in “Translational Psychiatry” Researchers found two new genetic variants linked to Alzheimer's disease.
1 citations
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June 2022 in “JCRPE” Metreleptin treatment significantly improved metabolic health in a boy with congenital generalized lipodystrophy.
March 2026 in “JID Innovations” Aire mutation reduces alopecia areata, while Notch4 mutation prevents it in mice.
14 citations
,
March 2022 in “Plant Cell & Environment” The protein AtRXR3 limits root hair growth in Arabidopsis, affecting phosphorus uptake.
21 citations
,
April 2008 in “Toxicologic Pathology” CI-1033 causes skin lesions in rats, similar to humans, due to EGF receptor inhibition.
4 citations
,
July 2022 in “The Journal of Clinical Endocrinology & Metabolism” A specific genetic mutation causes POMC deficiency, leading to symptoms like weight gain and red hair.
74 citations
,
October 2012 in “The American Journal of Human Genetics” Mutations in the HOXC13 gene cause hair and nail development issues.
15 citations
,
October 1999 in “PubMed” Understanding genes and mutations can lead to new treatments for hair loss disorders.
17 citations
,
August 2012 in “Journal of Medical Genetics” A new mutation in the XEDAR gene might cause a rare skin condition called hypohidrotic ectodermal dysplasia.
6 citations
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April 2018 in “Transplantation proceedings” A woman experienced severe side effects from a drug due to a specific genetic variation, suggesting genetic testing could prevent such risks.
Genetic analysis of rabbits identified key genes for traits like coat color, body size, and fertility.
RNA-based treatments show promise for managing Hutchinson-Gilford Progeria Syndrome.
148 citations
,
May 2008 in “The journal of investigative dermatology/Journal of investigative dermatology” Mice without the vitamin D receptor are more prone to UV-induced skin tumors.
December 2023 in “JCEM case reports” A new gene variant causes glucocorticoid resistance in a mother and son.
3 citations
,
January 2018 in “Postępy Dermatologii i Alergologii” Longer TA repeats in the SRD5A2 gene may increase acne risk in Chinese people.
April 2019 in “Journal of Investigative Dermatology” Non-coding RNA boosts retinoic acid production and signaling, aiding regeneration.
Introducing the OTC gene improved symptoms in mice with OTC deficiency.
3 citations
,
January 2021 in “Molecular genetics & genomic medicine” The study found two new mutations in a Chinese patient with severe biotinidase deficiency.
31 citations
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February 2007 in “Molecular Carcinogenesis” Overexpressing ATF3 in mice's epithelial cells may lead to oral cancer.
20 citations
,
May 2011 in “Journal of Clinical Investigation” The study created a mouse model to mimic degenerative diseases for testing tissue repair and new therapies.
97 citations
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March 2006 in “Journal of Investigative Dermatology” Mutations in the DSG4 gene cause a severe form of brittle hair and skin issues.
1 citations
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June 2022 in “Experimental dermatology” The SHJH hr mice with a mutated Hr gene show signs of faster skin aging due to poor antioxidative protection.