September 2022 in “Indian Journal of Paediatric Dermatology” Clouston syndrome is inherited in an autosomal dominant pattern and caused by a specific gene mutation, with no current treatment available.
37 citations
,
June 2004 in “Human molecular genetics online/Human molecular genetics” The HCR gene contributes to psoriasis risk.
6 citations
,
May 2012 in “Archives of Dermatological Research” A new mutation in the HR gene is linked to a rare form of hair loss with limb deformities.
1 citations
,
September 2021 in “Cureus” The rs1128977 gene variant may affect cholesterol and body measurements.
July 2024 in “British journal of dermatology/British journal of dermatology, Supplement” A variant in the KRT31 gene causes a rare hereditary hair disorder called monilethrix.
5 citations
,
June 2008 in “British Journal of Dermatology” 15 citations
,
October 2012 in “Journal of child neurology” The same genetic mutation in Sjögren-Larsson syndrome can lead to different levels of severity, suggesting other factors influence the symptoms.
September 2022 in “Research Square (Research Square)” 5% topical minoxidil improves hair density and quality in monilethrix patients.
August 2013 in “Gastroenterology” A 60-year-old man with Cronkhite-Canada syndrome improved with treatment, but the condition has a high mortality rate and a risk of colorectal cancer.
January 2025 in “Turkish Journal of Cerebrovascular Diseases” CARASIL can cause different symptoms even with the same genetic mutation.
66 citations
,
October 2002 in “Human molecular genetics online/Human molecular genetics” A gene mutation in mice causes skin defects and early death.
57 citations
,
January 1987 in “Journal of Biological Chemistry” Different keratins have unique expression patterns in mouse skin cells.
January 2008 in “The Year book of endocrinology” Gene variant linked to prostate cancer, hormone levels, and hair loss.
May 2019 in “CINECA IRIS Institutial Research Information System (University of Genoa)” MITF+ melanoma patients are more likely to have multiple melanomas and unique skin patterns.
November 2009 in “Medical & surgical dermatology” The document concludes that Borrelia afzelii causes a skin condition in France, a gene is linked to hair loss in Caucasian women, and various genetic mutations affect skin diseases.
35 citations
,
June 2011 in “British Journal of Dermatology” The DQB1*03 allele is linked to higher alopecia areata risk in Italians.
26 citations
,
December 2003 in “Experimental Dermatology” Specific keratin gene mutations can cause monilethrix.
26 citations
,
August 2014 in “Genetic Testing and Molecular Biomarkers” High levels of TNF-α may contribute to obesity and insulin resistance in PCOS, but not due to the C850T genetic variation.
July 2025 in “Zahedan Journal of Research in Medical Sciences” CAG repeat length in the AR gene is not linked to PCOS risk in Iranian women.
5 citations
,
January 2016 in “Dermatology” No significant link between CAG repeat numbers and female pattern hair loss in Han Chinese population.
2 citations
,
April 2008 in “PubMed” A gene mutation causes monilethrix in a Chinese family.
15 citations
,
June 2012 in “British Journal of Dermatology” A new mutation in the KRT86 gene causes a hair disorder with variable expression.
3 citations
,
January 2011 in “Intestinal Research” Cronkhite-Canada syndrome can cause multiple gastrointestinal polyps and various physical symptoms.
299 citations
,
March 2001 in “Journal of Investigative Dermatology” Male pattern baldness is linked to specific genetic variations in the androgen receptor gene.
10 citations
,
September 2015 in “PLoS ONE” New mutations in the VDR gene cause vitamin D-resistant rickets without hair loss.
4 citations
,
January 1976 in “Archives of Dermatological Research” Metabolic disorders can cause hair structure defects and growth issues, but amino acid levels in hair remain normal.
7 citations
,
September 2006 in “Molecular Carcinogenesis” Homozygous K5Cre transgenic mice have wavy hair and faster cancer progression.
12 citations
,
October 2004 in “Experimental Gerontology” Changes in testosterone and estrogen receptor genes can affect how men age, influencing body fat, hair patterns, and possibly leading to skin disorders.
December 2021 in “Molecular genetics and genomics” Cats with abnormal hair had DSG4 gene changes causing hair problems.
16 citations
,
January 2019 in “Aging” Lack of functional CYLD in mice leads to early aging and cancer.