3 citations
,
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.
30 citations
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August 2005 in “British journal of dermatology/British journal of dermatology, Supplement” A specific gene mutation causes hair loss and potential eye issues, even if vision seems normal.
29 citations
,
June 2016 in “Experimental Dermatology” MCHR2 gene duplications may be linked to alopecia areata.
1 citations
,
March 2023 in “Frontiers in Cardiovascular Medicine” A specific gene variant is linked to heart disease, increased heart muscle, curly hair, and thick skin on palms and soles.
23 citations
,
July 2016 in “JAMA Ophthalmology” CDH3-related disease causes worsening eye and hair issues.
1 citations
,
May 2023 in “Frontiers in Pharmacology” Genetic screening for NUDT15 polymorphisms is crucial for patients taking azathioprine, especially in Asians.
65 citations
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September 2014 in “Orphanet Journal of Rare Diseases” Different STUB1 gene mutations cause varied symptoms in autosomal recessive ataxias.
14 citations
,
December 1998 in “British Journal of Cancer” Truncated hHb1 keratin may play a role in breast cancer cell transformation.
15 citations
,
June 2012 in “British Journal of Dermatology” A new mutation in the KRT86 gene causes a hair disorder with variable expression.
April 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” The study suggests that a specific type of immune cell, memory-like NK cells, may increase during active hair loss in Alopecia areata.
January 2022 in “International journal of dermatology and venereology” A Chinese man with KID syndrome had a new mutation in the GJB2 gene.
April 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” Removing UBE2N from skin cells causes inflammation and immune response, which can be lessened with specific inhibitors.
34 citations
,
July 2009 in “Journal of Cell Science” ΔNp63α helps control a protein that stops cancer cells from spreading.
2 citations
,
September 2017 in “Journal of Investigative Dermatology” Notch1 signaling is impaired in hidradenitis suppurativa, affecting skin and hair cells.
July 2002 in “Science Signaling” Modified β-catenin can cause different effects in mouse skin cells, leading to cysts or tumors depending on the cell type.
November 2022 in “Gigascience” A specific genetic deletion in goats affects cashmere yield and thickness.
June 2020 in “Research Square (Research Square)” The study found key long non-coding RNAs involved in yak hair growth cycles.
Dupilumab improved hair and skin in a woman with Netherton syndrome.
68 citations
,
December 2010 in “The journal of investigative dermatology/Journal of investigative dermatology” HOXC13 is essential for hair and nail development by regulating Foxn1.
8 citations
,
December 2003 in “Experimental Dermatology” Altering the keratin 17 gene in mice hair follicles caused temporary hair issues, but changes were minimal and short-lived.
Certain gene variations and different levels of BDNF and CRH hormones are linked to vitiligo.
4 citations
,
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.
April 2021 in “The journal of investigative dermatology/Journal of investigative dermatology” TET enzymes are important for skin and hair development by controlling gene activity in specific areas.
Dupilumab improved hair and skin in a woman with Netherton syndrome.
4 citations
,
May 2021 in “The journal of investigative dermatology/Journal of investigative dermatology” ELL is crucial for gene transcription related to skin cell growth.
4 citations
,
August 2013 in “Chinese Medical Journal” A specific gene mutation in KRT86 is linked to hair disorder in a Chinese Han family.
November 2024 in “Journal of Investigative Dermatology” Understanding snoRNA regulation may help slow skin aging.
5 citations
,
June 2008 in “British Journal of Dermatology” 53 citations
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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.
August 2016 in “Journal of Investigative Dermatology” The enzyme CD73 helps control human hair growth and could be targeted to treat hair growth disorders.