27 citations
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July 1997 in “PubMed” The harlequin ichthyosis mouse mutation causes thick skin and early death, resembling a human skin disorder.
5 citations
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January 2012 in “Indian Journal of Dermatology Venereology and Leprology” Werner's syndrome causes early aging and increases cancer risk, requiring early diagnosis and symptom management.
April 2023 in “Journal of Investigative Dermatology” Type 1/17 inflammation in psoriasis increases skin cell growth due to a molecule that could be a new treatment target.
2 citations
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August 2022 in “World Journal of Clinical Cases” Albumin and prednisone improved symptoms in a woman with Cronkhite-Canada syndrome, revealing potential genetic causes.
June 2021 in “The American Journal of the Medical Sciences” Androgenetic alopecia is linked to a higher risk of coronary heart disease due to certain genetic factors and high homocysteine levels.
72 citations
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November 2012 in “PloS one” The protein folliculin, involved in a rare disease, works with another protein to control how cells stick together and their organization, and changes in this interaction can lead to disease symptoms.
March 2011 in “Open Archive (Karolinska Institutet)” The mouse model showed defects in adult stem cell maintenance related to Hutchinson-Gilford progeria syndrome.
55 citations
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April 2008 in “Clinical Genetics” A new mutation in the ST14 gene was found in a patient with ARIH syndrome, showing milder symptoms and no tooth issues.
Certain genetic markers on chromosome 20 are linked to hair loss in the Han Chinese from Yunnan.
53 citations
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May 1988 in “Journal of Molecular Evolution” February 2022 in “Authorea (Authorea)” PAON shows skin patterns due to genetic mosaicism.
92 citations
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February 2005 in “Journal of Investigative Dermatology”
November 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” Skin organoids with NCSTN mutation show changes in hair follicle development and higher inflammation, key features of Hidradenitis Suppurativa.
April 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” Blocking a key energy pathway in human hair follicles can trigger stress responses that stop cell growth.
188 citations
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June 1998 in “Molecular cell” Researchers created a mouse with the same mutation as humans with trichothiodystrophy, showing similar symptoms and confirming the condition is due to defects in DNA repair and gene activity.
3 citations
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February 2018 in “Experimental and Molecular Medicine/Experimental and molecular medicine” A protein called PCBP2 controls the production of a hair growth protein by interacting with its genetic message and is linked to hair loss when this control is disrupted.
April 2021 in “Journal of Investigative Dermatology” Krox20 is crucial for hair growth and maintaining skin stem cells.
86 citations
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November 2015 in “Journal of Gastroenterology” The NUDT15 R139C variant causes thiopurine-induced leukocytopenia through a different mechanism than previously thought in Japanese patients with inflammatory bowel disease.
Inhibiting AP-1 changes skin tumor types and affects tumor cell identity.
Inhibiting AP-1 changes skin tumor types and affects tumor cell identity.
January 2014 in “Pathology” RET mutation is important in familial medullary thyroid carcinoma, and BRAF mutation in papillary thyroid carcinoma is linked to more aggressive cancer and higher death rates.
12 citations
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August 2020 in “Frontiers in Genetics” H19 boosts hair growth potential by activating Wnt signaling, possibly helping treat hair loss.
January 2014 in “Elsevier eBooks” The study concluded that genetic mutations affect human hair diseases and identified key genes and pathways involved in hair growth and cycling.
November 2019 in “Harper's Textbook of Pediatric Dermatology” Mutations in keratin genes cause skin, hair, and nail disorders, with future treatments possible.
13 citations
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April 1994 in “Baillière's clinical endocrinology and metabolism” Some people have genetic mutations that make them resistant to vitamin D, leading to rickets even with enough vitamin D intake.
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.
132 citations
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February 2002 in “Journal of Biological Chemistry” HOXC13 is crucial for regulating hair keratin genes in hair follicles.
15 citations
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January 1993 in “DNA sequence” KRT2.13 gene is similar to KRT2.9 but not expressed in hair follicles.
October 2014 in “Aktuelle Dermatologie” A 19-year-old with MRKHS developed complete hair loss, and treatment options were discussed.
November 2023 in “Scientific Reports” A gene mutation in Lama3 is linked to a common type of hair loss.