January 2026 in “International Journal of Research and Innovation in Applied Science” Recognizing specific markers is crucial for correctly diagnosing and treating rare multifocal MPTT in males.
mEphA1 receptor tyrosine kinase is important for skin and hair development and may play a role in certain diseases.
April 2016 in “Journal of Investigative Dermatology” Removing alkaline phosphatase from human skin cells hinders the creation of new hair follicles.
53 citations
,
May 1996 in “The Journal of Clinical Endocrinology & Metabolism” Different mutations in the 5 alpha-reductase-2 gene were found in affected individuals in the Dominican Republic, suggesting no common ancestry.
1 citations
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September 2020 in “Journal of dermatology” Researchers found a new mutation in the LIPH gene of a woman with a rare hair condition.
1 citations
,
January 1992 in “DNA sequence” Researchers found a non-functional sheep keratin gene due to mutations.
37 citations
,
January 1993 in “Journal of Investigative Dermatology”
124 citations
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September 1992 in “Endocrinology” The human type II 5α-reductase gene, linked to certain male health conditions, has a specific structure and low similarity to other related genes.
10 citations
,
June 2011 in “Movement Disorders” THAP1 gene changes do not affect DYT1 dystonia; finasteride may help reduce tics and OCD in Tourette syndrome.
January 2007 in “Revista del Centro Dermatológico Pascua” A 2-year-old boy was diagnosed with a rare genetic condition causing fragile hair, intellectual issues, and short stature.
2 citations
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May 2020 in “The journal of investigative dermatology/Journal of investigative dermatology” A TP63 gene mutation causes significant hair loss and mild skin, nail, and tooth abnormalities.
April 2025 in “Molecular Biology Reports” DNMT1 may help treat hypospadias by improving cell function and preventing unwanted cell changes.
June 2010 in “Chinese Journal of Dermatology” A new gene mutation is linked to monilethrix in the studied family.
151 citations
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August 2011 in “The EMBO Journal” The enzyme PA-PLA1α is important for proper hair follicle development.
9 citations
,
May 2014 in “BMC medical genetics” A woman with a unique syndrome similar to TRPS has a genetic change near the TRPS1 gene, affecting its regulation.
10 citations
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March 2015 in “Journal of dermatology” The boy's severe skin disorder is caused by two new mutations in his TGM1 gene.
5 citations
,
August 2012 in “Experimental Dermatology” Artemis phosphorylation at Ser516 may help regulate skin and hair structures.
September 2025 in “OPAL (Open@LaTrobe) (La Trobe University)” Angiopoietin-1 helps hair follicle cells survive and grow, potentially treating hair loss.
February 2020 in “Definitions” Mutations in the KRT16 gene can cause skin and nail disorders.
46 citations
,
November 2007 in “Gene Expression Patterns” Trps1 plays a key role in hair follicle development and cycling.
23 citations
,
January 2005 in “Nihon Ishinkin Gakkai zasshi” Nested PCR can reliably identify fungal infections when traditional methods fail.
January 2023 in “Revista Paulista de Pediatria” A Brazilian male with IFAP syndrome has a unique genetic variant causing his condition.
211 citations
,
February 1994 in “Proceedings of the National Academy of Sciences” Too much parathyroid hormone-related protein in skin disrupts hair growth in mice.
April 2016 in “The journal of investigative dermatology/Journal of investigative dermatology” RPGRIP1L helps skin cells stick together by blocking PKCβII, which can prevent skin blistering like in pemphigus.
60 citations
,
August 2008 in “Human molecular genetics online/Human molecular genetics” A position effect on the TRPS1 gene causes excessive hair growth in humans and mice.
22 citations
,
February 2012 in “Journal of Investigative Dermatology” A specific gene mutation causes severe skin and nail issues and hair loss.
May 2005 in “Molecular Carcinogenesis” mrp/plf-mRNA can indicate tumor-promoting effects in skin.
18 citations
,
June 2001 in “Journal of Investigative Dermatology” Adding a specific gene to skin cells can help treat skin disorders like psoriasis.
IP-PA1 helps grow hair in mice and affects human cell growth-related genes differently than traditional hair growth treatments.
13 citations
,
January 2012 in “International journal of trichology” The study found that hair fragility in Pili annulati may be caused by cavities and damage within the hair shafts.