29 citations
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June 2016 in “Experimental Dermatology” MCHR2 gene duplications may be linked to alopecia areata.
65 citations
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September 2014 in “BMC genomics” Different hair types in mammals are linked to variations in specific protein genes, with changes influenced by their living environments.
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.
2 citations
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July 2019 in “PLOS ONE” Certain genetic variations are linked to higher liver enzyme levels in patients treated for chronic hepatitis C with specific drugs.
39 citations
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October 2012 in “Familial cancer” New therapies for Birt–Hogg–Dubé syndrome are being developed based on understanding the FLCN gene's role.
April 2026 in “npj Parkinson s Disease” VPS13C variants are linked to more severe REM sleep disorder and faster progression to Parkinson's disease.
January 2023 in “Indian dermatology online journal” A boy with Pachyonychia congenita has a confirmed gene mutation, highlighting the need for a local genetic database in India.
December 2024 in “Kırıkkale Üniversitesi Tıp Fakültesi Dergisi” Chromosomal microarray analysis is important for diagnosing rare genetic variations and guiding treatment.
10 citations
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June 2011 in “Movement Disorders” THAP1 gene changes do not affect DYT1 dystonia; finasteride may help reduce tics and OCD in Tourette syndrome.
5 citations
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March 2005 in “Journal of The American Academy of Dermatology” 344 citations
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May 2018 in “EMBO journal” Phosphorylation controls TFEB's location in the cell, affecting cell metabolism and stress response.
April 2023 in “Cancer research” KRTAP2-3 could help predict cancer recurrence by identifying specific cancer cells.
14 citations
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March 2018 in “The American journal of case reports” People with the same genetic mutation for Woodhouse-Sakati syndrome can have different symptoms.
January 2025 in “Case Reports in Genetics” A rare gene variant causes sexual development issues in siblings, needing personalized treatment.
A new genetic mutation was found causing hair and eye issues in a boy.
46 citations
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November 2019 in “Journal of Integrative Plant Biology” CaM7 and CNGC14 interaction controls root hair growth in Arabidopsis.
14 citations
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May 2016 in “International Journal of Molecular Sciences” PP2Acα is essential for proper hair and skin development.
20 citations
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June 2019 in “Experimental Dermatology” The research suggests that autophagy-related genes might play a role in causing alopecia areata.
72 citations
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January 2003 in “American Journal of Pathology” A protein called CBP is found in prostate cancer and can increase the effectiveness of certain prostate cancer treatments.
17 citations
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June 2017 in “Gene” A rare genetic mutation found in an Indian family can be detected through prenatal screening.
4 citations
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October 2024 in “Heliyon” CYP154C7 enzyme can effectively modify steroids and is promising for commercial use.
January 2007 in “Journal of Inner Mongolia University” The research helps in creating genetically modified animals to study hair growth.
52 citations
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May 2006 in “Journal of Structural Biology” Keratin-associated proteins help link filaments and affect keratin's strength.
11 citations
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July 2010 in “European Journal of Dermatology” The condition is linked to chromosome 12, but no mutations were found in the known genes.
8 citations
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January 2021 in “Bulletin of Experimental Biology and Medicine” ATP and IL-10 levels in hair follicles relate to follicle length and hair growth, with differences in alopecia patients.
139 citations
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September 2001 in “The journal of investigative dermatology/Journal of investigative dermatology” Mutations in the Vitamin D receptor gene can cause hair loss similar to mutations in the Hairless gene.
92 citations
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January 2012 in “International Journal of Biological Sciences” The document introduced a new naming system for keratin-associated proteins to improve clarity and communication across species.
79 citations
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October 2003 in “PubMed” Overexpression of PKCepsilon leads to increased TNFalpha, promoting metastatic squamous cell carcinoma in mice.
A genetic mutation in the CDH3 gene causes hair loss and vision problems in a young Saudi girl.
April 2024 in “Human genomics” Identified genes linked to male-pattern baldness may help develop new treatments.