7 citations
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June 2016 in “Bone Research” A Chinese family had a child with a specific gene mutation causing vitamin D-resistant rickets, but the child improved with calcium and low-dose calcitriol.
2 citations
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June 2025 in “Journal of Investigative Dermatology” CD8+ T cells re-expressing CD45RA may predict treatment resistance in severe alopecia areata.
9 citations
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October 2015 in “Journal of Cutaneous Pathology” Erythematous papulopustular eruptions in cancer patients using EGFR inhibitors show specific skin changes that vary with severity and treatment type.
Genetic factors in PCOS are complex, with potential influences from the MC4R gene.
October 1984 in “Immunology Today” January 2016 in “DOAJ (DOAJ: Directory of Open Access Journals)” Collagen XVII is important for cell functions and its absence can worsen cancer outcomes.
May 2025 in “Proceedings of the National Academy of Sciences” UTX is crucial for skin differentiation and health, especially in females.
11 citations
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March 2014 in “Journal of Investigative Dermatology” Genetic mutation and carcinogen treatment are both needed for skin cancer to develop in these specific mice.
A genetic mutation in the EDA gene causes hypohidrotic ectodermal dysplasia in cats.
January 2020 in “Archivio Istituzionale della Ricerca (Universita Degli Studi Di Milano)” Polycomb Repressive Complex 1 is crucial for keeping stem cells stable and maintaining healthy adult tissues.
4 citations
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May 2023 in “Research Square (Research Square)” Cepharanthine can potentially treat gastric cancer by stopping tumor growth.
Lhx2 is essential for effective Sonic Hedgehog signaling in early retinal development.
July 2021 in “British Journal of Dermatology” The boy's genetic diagnosis of ectodermal dysplasia helped improve management and counseling for him and his sister.
April 2018 in “Journal of Investigative Dermatology” CENPV, a new partner of CYLD, helps regulate ciliary acetylated tubulin and is overexpressed in certain skin tumors.
April 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” HPV8 causes hair follicle stem cells to grow, leading to skin lesions.
September 2017 in “The journal of investigative dermatology. Symposium proceedings/The Journal of investigative dermatology symposium proceedings” CCCA can affect both genders and all ages, and it has a genetic component.
September 2019 in “Journal of Investigative Dermatology” CCCA in women of African ancestry may be caused by PADI3 gene mutations and intense hair grooming.
20 citations
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November 2003 in “American Journal Of Pathology” Fibroblasts from healthy donors can prevent changes seen in recessive epidermolysis bullosa simplex.
6 citations
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December 2022 in “International Journal of Molecular Sciences” EZH2 is crucial for uterine gland development and female fertility.
January 1964 in “OSTI OAI (U.S. Department of Energy Office of Scientific and Technical Information)” CXCL7 is essential for muscle repair by aiding early neutrophil infiltration.
14 citations
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April 2019 in “Genes” Researchers found a genetic region that influences the number of coat layers in dogs.
April 2016 in “Journal of Investigative Dermatology” Decreasing MIG6 can increase the movement and invasiveness of MEK-inhibited mutant NRAS melanoma, particularly when stimulated by EGF.
113 citations
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May 2002 in “PubMed” Overexpressing COX-2 in mice skin reduces skin tumor development.
9 citations
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February 2005 in “The journal of investigative dermatology/Journal of investigative dermatology” The document concludes that the human keratin gene cluster is complex, with a need for updated naming to reflect over 50 functional genes important for hair and skin biology.
March 2024 in “International journal of molecular sciences” Three specific genetic variants cause severe skin issues in children with EBS, highlighting the need for early genetic screening.
Mutations in the PADI3 gene may cause central centrifugal cicatricial alopecia in women of African ancestry.
The trichohyalin gene is located at chromosomal region 1q21 with other skin-related protein genes.
9 citations
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June 2019 in “Cell cycle/Cell cycle (Georgetown, Tex. Online)” A specific RNA increases hair stem cell growth and skin healing by affecting a protein through interaction with a microRNA.
3 citations
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November 2015 in “Endocrinology, Diabetes & Metabolism Case Reports” Ring Chromosome 11 may be linked to conditions like early puberty, excessive hair growth, hair loss, and type 2 diabetes.
9 citations
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January 2023 in “International Journal of Biological Sciences” CTHRC1 is essential for healing and preventing heart rupture after a heart attack.