January 2022 in “bioRxiv (Cold Spring Harbor Laboratory)” The gp130 receptor helps in tissue regeneration and disease progression, and manipulating it could improve healing and prevent disease.
February 2016 in “The journal of allergy and clinical immunology/Journal of allergy and clinical immunology/The journal of allergy and clinical immunology” A new TP63 mutation was found in a baby with EEC syndrome, showing the need for TREC testing to check for immune issues.
35 citations
,
August 2010 in “The American journal of pathology” Researchers created a new mouse model for studying Citrullinemia Type I and similar conditions, showing symptoms and treatment responses like those in humans.
Introducing the OTC gene improved symptoms in mice with OTC deficiency.
November 2023 in “Frontiers in pharmacology” Drug repositioning offers hope for new, affordable treatments for a genetic skin disorder called ARCI.
9 citations
,
November 2013 in “Journal of Investigative Dermatology” Overexpressing CtBP1 in skin cells causes skin and hair problems.
August 2024 in “Steroids” The androgen receptor's shape-changing ability helps it function but can lead to cancer treatment resistance.
1 citations
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September 2017 C-scores can help predict gain-of-function and loss-of-function mutations.
March 2026 in “Journal of Investigative Dermatology” CCCA can occur in children and needs early diagnosis to prevent permanent hair loss.
February 2026 in “Small Ruminant Research” The IRF2BP2 gene affects sheep fleece quality by influencing fiber traits.
June 2024 in “British Journal of Dermatology” KRT14 gene variants cause dermatopathia pigmentosa reticularis, affecting nails, teeth, and hair.
October 2024 in “Journal of the Endocrine Society” A rare genetic mutation causes resistance to vitamin D, leading to severe rickets and requiring high doses of calcium and vitamin D for treatment.
April 2018 in “The journal of investigative dermatology/Journal of investigative dermatology” Double-stranded RNA helps regenerate hair follicles by increasing retinoic acid production and signaling.
28 citations
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November 2013 in “The FASEB journal” Mice with CBS deficiency are healthier on a low-methionine diet.
37 citations
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January 2008 in “Gynecological Endocrinology” Shorter CAG repeats in a specific gene may increase male hormone activity and symptoms like acne and excess hair in women with PCOS.
March 2021 in “Research Square (Research Square)” Strontium ranelate helps cartilage growth by blocking a specific cell pathway.
35 citations
,
September 2009 in “Development” Necl2 affects skin cell behavior and slows wound healing.
November 2023 in “Journal of Investigative Dermatology” Removing GRK2 in skin cells causes hair loss similar to immune-related alopecia.
42 citations
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August 1999 in “The American journal of pathology” Basal cell carcinomas have much higher levels of Vitamin D3 receptors compared to healthy skin.
8 citations
,
December 2017 in “Small Ruminant Research” Variation in the TCHH gene affects wool curliness in sheep.
January 2026 in “PLoS Biology” ARHGEF3 is essential for proper hair follicle development in mice.
48 citations
,
August 1998 in “Developmental Biology” Deleting part of a gene in mice causes wavy hair and high pup loss.
28 citations
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May 2020 in “BMC plant biology” The study concluded that three enzymes are important for plant development by affecting sugar composition and calcium binding in plants.
September 2017 in “Journal of Investigative Dermatology” LRIG1 protein affects hair growth by regulating skin receptors, leading to hair loss when overexpressed.
5 citations
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August 2019 in “iScience” Deleting the Trf1 protein in mice is safe and may help prevent cancer without major side effects.
67 citations
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September 2017 in “Cell Reports” Caloric restriction improves skin and fur structure but can cause muscle loss and movement issues.
75 citations
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July 2016 in “New phytologist” The protein RSL4 is crucial for making root hairs longer by controlling genes related to cell growth.
14 citations
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November 2007 in “Journal of Dermatological Science” Vitamin C derivative may promote hair growth by activating specific genes.
1 citations
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June 2015 in “Australasian Journal of Dermatology” A patient with Cronkhite-Canada syndrome improved with nutritional support and steroids, but early diagnosis is key due to high mortality.
6 citations
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June 2021 in “Developmental biology” Dermal EZH2 controls skin cell development and hair growth in mice.