January 2006 in “Advances in developmental biology” The Hairless gene is crucial for healthy skin and hair growth.
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.
December 2013 in “Appetite” A defective gene causes hair loss and taste insensitivity in BTBR mice.
132 citations
,
February 2002 in “Journal of Biological Chemistry” HOXC13 is crucial for regulating hair keratin genes in hair follicles.
30 citations
,
October 2014 in “PLOS ONE” BAF200 is essential for proper heart and coronary artery formation.
June 2005 in “Journal of Investigative Dermatology” A bull with a gene mutation was asymptomatic, synthetic retinoids cause hair loss, and new therapeutic targets were identified for skin diseases.
January 2024 in “JCEM case reports” This is the first known case of parathyroid cancer in a patient with Birt Hogg Dube Syndrome.
117 citations
,
August 1999 in “Nature Genetics” 12 citations
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March 2013 in “The American journal of dermatopathology/American journal of dermatopathology” Birt–Hogg–Dubé Syndrome requires genetic testing for accurate diagnosis due to its similarities with tuberous sclerosis.
April 2023 in “Journal of Investigative Dermatology” Proper cell death regulation is crucial for normal hair follicle regeneration and skin remodeling.
April 2019 in “Journal of Investigative Dermatology” BRG1 is essential for skin cells to move and heal wounds properly.
7 citations
,
May 2010 in “Journal of Cutaneous Pathology” A new genetic area linked to a rare hair loss condition was found on chromosome 13 in a Chinese family.
Mutations in the hairless protein gene cause hair loss.
January 2013 in “Kidney international” A man with kidney tumors and lung cysts was diagnosed with Birt–Hogg–Dubé syndrome and treated successfully, with genetic testing confirming the diagnosis.
37 citations
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June 2004 in “Human molecular genetics online/Human molecular genetics” The HCR gene contributes to psoriasis risk.
January 2012 in “Journal of Investigative Dermatology” Some Greek melanoma patients have gene mutations linked to increased cancer risk, a new color feature helps diagnose melanoma, the incidence of a skin condition in the Netherlands is rare, and a gene possibly affects male-pattern baldness.
September 2025 in “OPAL (Open@LaTrobe) (La Trobe University)” The treatments stopped hair regrowth in mice.
December 2016 in “The journal of investigative dermatology/Journal of investigative dermatology” Hedgehog signaling controls hair follicle development and can affect skin cancer growth.
2 citations
,
February 2025 in “Poultry Science” TBX5 gene influences feathered feet in Guangxi chickens by affecting cell growth and movement.
June 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” The HoxC gene cluster and its enhancers are essential for developing hair and nails in mammals.
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.
50 citations
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February 2007 in “The Journal of Pathology” Somatic BHD mutations are rare in Japanese renal tumors.
4 citations
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May 1998 in “PubMed” The Bsk mutation doesn't involve keratin gene recombination and its cause is unknown.
18 citations
,
September 2003 in “International Journal of Cancer” EBV infection increases a specific keratin variant in carcinoma cells, possibly affecting cell structure and cancer progression.
1 citations
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February 2025 in “Journal of Dairy Science” The SLICK1 allele in Holstein heifers affects hair and immune traits without altering prolactin signaling.
1 citations
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October 2000 in “Journal of Investigative Dermatology” The Thr1022Ala variant in the hairless gene is not a disease-causing mutation.
July 2023 in “New phytologist” The BUZZ gene is important for root hair growth and overall root structure in the plant Brachypodium distachyon.
74 citations
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October 2012 in “The American Journal of Human Genetics” Mutations in the HOXC13 gene cause hair and nail development issues.
September 2024 in “Journal of Medicine and Life” A specific gene mutation causes a severe skin disorder in a family.
44 citations
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April 2013 in “Proceedings of the National Academy of Sciences of the United States of America” FGF13 gene changes cause excessive hair growth in a rare condition.