3 citations
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February 2020 in “The journal of gene medicine” A mutation in the HR gene causes a rare form of irreversible hair loss in two Kashmiri families. Whole exome sequencing is effective for finding such mutations.
1 citations
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November 2023 in “Anais Brasileiros de Dermatologia” Certain gene variations and low adiponectin levels may increase the risk of hair loss in Egyptians.
8 citations
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January 2011 in “International journal of trichology” Accurate diagnosis of APL is crucial to avoid unnecessary treatments.
15 citations
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July 2015 in “Developmental Dynamics” Orai1 protein is crucial for tooth development and affects enamel thickness and mineralization.
January 2009 in “ScholarlyCommons (University of Pennsylvania)” The P133R mutation in AKR1D1 enzyme causes harmful bile acid buildup, explaining related health issues.
7 citations
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January 2018 in “Neurodegenerative Diseases” Researchers found a new ABCD1 gene mutation linked to a rare brain and nerve disorder with unusual brain changes.
June 2021 in “bioRxiv (Cold Spring Harbor Laboratory)” KIF18B is important for correctly positioning cell division machinery in skin cells, affecting hair follicle development.
April 2017 in “Journal of Investigative Dermatology” Reduced Stx17 expression may contribute to Alopecia Areata.
7 citations
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March 2020 in “PloS one” α-parvin is necessary for skin and hair growth and for the correct orientation of skin cells.
1 citations
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August 2019 in “Journal of pediatric & adolescent gynecology” A new genetic change causing early stop in the androgen receptor gene was found in a patient with androgen insensitivity syndrome.
April 1996 in “Journal of Dermatological Science” 91 citations
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May 1972 in “Journal of Biological Chemistry” Transglutaminases work through a ping-pong mechanism, and human plasma and platelet transglutaminases have similar catalytic subunits.
3 citations
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March 2019 in “European Journal of Dermatology” A specific gene mutation (Y449H in K10) was found in a patient with severe skin disorder.
76 citations
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June 2015 in “Journal of biomedical science” Mutations in Gasdermin A3 cause skin inflammation and hair loss by disrupting mitochondria.
77 citations
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April 2009 in “British Journal of Dermatology” Aromatase gene variation may increase female hair loss risk.
3 citations
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July 2022 in “Brain and Behavior” The HtrA1L364P mutation causes brain dysfunction and blood vessel damage.
70 citations
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August 2006 in “Cancer Research” AP-1 controls tumor cell type by affecting key signaling pathways.
59 citations
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January 1976 in “Vitamins and hormones” Prostate cells have proteins that bind to specific hormones, which can increase protein production when activated by these hormones.
4 citations
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December 2021 in “Journal of clinical laboratory analysis” A new mutation in the DCAF17 gene was found to cause Woodhouse-Sakati syndrome in a large family.
September 2022 in “Research Square (Research Square)” Increasing Rps14 helps grow more inner ear cells and repair hearing cells in baby mice.
42 citations
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February 2019 in “Circulation” Targeting ATM could help manage heart cell enlargement due to pressure overload.
6 citations
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November 2019 in “The application of clinical genetics” The study found that a specific genetic variation in the TNFα gene is significantly linked to Alopecia Areata in the Jordanian Arab population.
January 2017 in “Seoul National University Open Repository (Seoul National University)” AIMP1 can boost hair growth by increasing stem cell activity.
32 citations
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May 1999 in “Biochemical and Biophysical Research Communications” A new enzyme, BSSP, is found in high amounts in the hair follicles of nude mice.
5 citations
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February 1981 in “Experientia” A new gene causes hairlessness and skin cysts in rats.
16 citations
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March 2013 in “The Journal of Dermatology” Low TRPS1 expression in skin and hair cells is linked to hair problems in Trichorhinophalangeal syndrome.
52 citations
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January 2003 in “Journal of Investigative Dermatology” Thrombospondin-1 is crucial for hair follicle regression and reduced blood vessel growth during the catagen phase.
260 citations
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July 2010 in “Cell” Mutations in the SRD5A3 gene cause a new type of glycosylation disorder by blocking the production of a molecule necessary for protein glycosylation.
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.
A TNFAIP3 gene mutation can cause unusual and varied symptoms of lupus and Sjogren's syndrome.