20 citations
,
May 2013 in “International Journal of Molecular Medicine” Researchers found a new gene variant linked to a rare bone disease, which doesn't always cause symptoms in carriers.
July 2025 in “Clinical Case Reports” A new genetic mutation in the TRPS1 gene causes Trichorhinophalangeal Syndrome, leading to specific hair, dental, and bone issues.
47 citations
,
April 2000 in “Experimental Dermatology” A new gene mutation causes a rare type of hair loss.
53 citations
,
August 2019 in “American journal of human genetics” FOXN1 gene variants cause low T cells and immune issues from birth.
6 citations
,
October 2012 in “Journal of Heredity” The Itpr3 gene causes a specific hair pattern in mice.
January 1996 in “Studia iuridica” Two new gene mutations cause a rare hair disorder.
July 2022 in “Research Square (Research Square)” Lower PPARγ levels and specific gene variations are linked to more severe Frontal Fibrosing Alopecia.
July 2024 in “Egyptian Journal of Medical Human Genetics” These gene variations are not linked to alopecia areata in Egyptians.
32 citations
,
January 2017 in “Orphanet journal of rare diseases” FOXN1 gene mutations cause a rare, severe immune disease treatable with cell or tissue transplants.
1 citations
,
December 2016 in “Revista română de medicină de laborator” The NIPAL4 mutation c.527C>A is common in Romanian patients with autosomal recessive congenital ichthyosis.
May 2017 in “The journal of immunology/The Journal of immunology” Patients with certain FoxN1 gene mutations have severe immune issues but normal skin and hair.
3 citations
,
January 2013 in “Dermatology” New genetic mutations causing hair loss were found in a Chinese family.
20 citations
,
March 1975 in “Journal of steroid biochemistry/Journal of Steroid Biochemistry” The study concludes that a genetic mutation in TFM mice leads to reduced androgen receptor activity, affecting the body's response to male hormones.
23 citations
,
March 2017 in “JAAD case reports” The document suggests a possible link between FAM111B gene mutations and increased cancer risk, particularly pancreatic cancer.
A rare genetic mutation causes severe immune issues, hair loss, and nail problems.
10 citations
,
November 2017 in “Journal of Investigative Dermatology” A mutation in the FAM83G gene is linked to skin and hair abnormalities in two related individuals.
35 citations
,
August 2006 in “Molecular genetics and metabolism” Tissue-specific variation in mutant load complicates genetic counseling and prenatal diagnosis.
4 citations
,
January 2011 in “Annals of Dermatology” Researchers found a new mutation in the HR gene linked to a rare hair loss condition.
May 2024 in “JAMA Dermatology” Oral contraceptive use may increase the risk of frontal fibrosing alopecia in women with a specific CYP1B1 gene variant.
22 citations
,
January 2009 in “Advances in experimental medicine and biology” FOXN1 mutations cause severe immunodeficiency, hair loss, nail issues, and thymus defects.
6 citations
,
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.
13 citations
,
November 2012 in “PLoS ONE” A gene mutation in mice causes severe skin disorder similar to a human condition.
5 citations
,
September 2013 in “The Journal of Dermatology” Researchers found a new mutation in the HR gene causing hair loss and skin bumps in a Pakistani family.
28 citations
,
December 1997 in “Journal of Biological Chemistry” A genetic mutation in the hHa1 gene creates a smaller, but still functional, hair protein without causing hair problems.
April 2018 in “Journal of Investigative Dermatology” Screening for the NUDT15 gene variant can prevent severe side effects from thiopurine drugs in East-Asian people.
December 2023 in “Research Square (Research Square)” These specific gene polymorphisms are not linked to Alopecia Areata in Egyptians.
3 citations
,
March 2010 in “Dermatologica Sinica” A Taiwanese patient had hair loss and skin bumps without the usual gene mutation, suggesting other genetic factors might be involved.
50 citations
,
August 2019 in “Cell Communication and Signaling” NFAT5 triggers atherosclerosis under stress by activating inflammation in blood vessels.
April 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” A specific mutation in the TRPV3 gene causes hair follicle cells to develop improperly, leading to hair loss.
March 2026 in “Journal of Investigative Dermatology”