95 citations
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February 2019 in “The New England Journal of Medicine” Mutations in the PADI3 gene are linked to a higher risk of scarring hair loss in women of African descent.
July 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” The early genes of a specific virus can cause abnormal skin cell growth and hair follicle changes.
April 2020 in “The journal of investigative dermatology/Journal of investigative dermatology” Certain surgical methods are better than routine incision for hidradenitis suppurativa, topical clindamycin and acitretin are effective treatments, men with HS have a risk of skin cancer, HS patients are more likely to die from heart problems, and specific genetic markers are linked to treatment response.
Deleting the MAD2L1 gene is tolerated in certain mouse cancer models.
5 citations
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October 2015 in “The American journal of pathology” Mice with a mutated Dsg3 gene showed severe symptoms but not the typical blistering of pemphigus vulgaris.
1 citations
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August 2011 in “Dermatology Reports” Two siblings were found to have a genetic condition causing progressive hair loss and woolly hair, which may often be misdiagnosed.
68 citations
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August 2009 in “American Journal of Medical Genetics Part A” A new classification for trichothiodystrophy helps identify genetic causes and potential treatments.
2 citations
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October 2023 in “Philosophical Transactions of the Royal Society B Biological Sciences” Different PADI isoforms help cells develop diverse functions.
103 citations
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October 2003 in “Birth Defects Research” Both genes and environmental factors like chemicals may contribute to the increase in hypospadias, but the exact causes are still unclear.
January 2006 in “Advances in developmental biology” The Hairless gene is crucial for healthy skin and hair growth.
November 2025 in “Journal of Investigative Dermatology” Genetic variants in specific genes cause central centrifugal cicatricial alopecia.
4 citations
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December 2012 in “Human Biology” The most different genetic segment between Africans and East Asians is the EDA2R/AR region, with two main types influenced by population changes and natural selection, and linked to baldness.
January 2018 in “bioRxiv (Cold Spring Harbor Laboratory)” Researchers found key regions in the mouse hairless gene that control its activity in skin and brain cells, affecting hair follicle function.
November 2024 in “Journal of Investigative Dermatology” Genetic changes in specific proteins contribute to hair loss in some women of African descent.
2 citations
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March 2016 in “Serbian Journal of Dermatology and Venerology” A six-year-old boy with excessive hair growth and other symptoms may have a genetic link on chromosome 17q, requiring regular medical follow-ups.
66 citations
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December 1999 in “Journal of Investigative Dermatology” New mutations in the hairless gene may cause hair loss and affect bone development.
1 citations
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July 2024 in “JCEM Case Reports” A new genetic variant of Woodhouse-Sakati syndrome was found in two adult sisters in Russia.
July 2022 in “International Journal of Health Sciences” Cardiac risk markers help assess heart risk in males with type 2 diabetes and low DHT.
24 citations
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February 2002 in “The journal of investigative dermatology/Journal of investigative dermatology” Two new proteins, hKAP1.6 and hKAP1.7, are found in the hair follicle cortex.
September 1978 in “Journal of steroid biochemistry/Journal of Steroid Biochemistry” 19 citations
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July 2020 in “EBioMedicine” A gene variant increases the risk of a type of hair loss by affecting hair protein production.
July 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” The structure of SRD5A reveals how it reduces steroids, aiding drug design for related health conditions.
April 2019 in “Journal of Investigative Dermatology” Stabilizing HIF1A in hair follicles may boost hair growth by enhancing energy production and blood vessel formation.
April 2025 in “OPAL (Open@LaTrobe) (La Trobe University)” Human umbilical cord stem cell exosomes may help treat hair loss by promoting hair cell growth.
42 citations
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February 2019 in “Circulation” Targeting ATM could help manage heart cell enlargement due to pressure overload.
3 citations
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April 2012 in “Bioinformation” Two specific SNPs in the TRPS1 gene cause excessive hair growth by altering the protein's structure.
51 citations
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January 2007 in “Animal Genetics” The gene for slick hair in Senepol cattle is located on chromosome 20 and may involve the SRD5A2 gene.
5 citations
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December 1996 in “Biochemical and Biophysical Research Communications” Mouse hair keratins mHa1 and mHb4 can't form a strong network on their own in cells.
April 2019 in “Journal of the Endocrine Society” A young patient with unusual insulin resistance and high testosterone levels had a rare INSR gene mutation.
January 2021 in “ABC Heart Failure & Cardiomyopathy” A 90-year-old man was diagnosed with heart failure due to wild-type transthyretin cardiac amyloidosis.