9 citations
,
March 2018 in “European journal of dermatology/EJD. European journal of dermatology” A new mutation in the ST14 gene causes a rare skin and hair disorder in a specific family.
65 citations
,
September 2014 in “Orphanet Journal of Rare Diseases” Different STUB1 gene mutations cause varied symptoms in autosomal recessive ataxias.
February 2017 in “Cancer Causes & Control” Swedish men with the E213 A-allele of the androgen receptor have a lower risk of prostate cancer.
25 citations
,
December 2005 in “Molecular Genetics and Metabolism” Taking riboflavin and eating less lysine can help some people with a specific genetic disorder avoid brain damage.
April 2017 in “The journal of investigative dermatology/Journal of investigative dermatology” HSD11b1 affects skin nerves and increases non-histaminergic itch.
1 citations
,
November 2024 in “Cureus” Recognizing RSCC is crucial due to its aggressive nature and high risk of poor outcomes.
7 citations
,
January 2021 in “Frontiers in genetics” Inherited color dilution in rabbits is linked to DNA methylation changes.
July 2024 in “Journal of Investigative Dermatology” Pediatric patients with dystrophic epidermolysis bullosa face more hospital admissions, procedures, and complications than others.
5 citations
,
September 2015 in “Nepalese journal of ophthalmology” An 11-year-old girl with a rare skin disorder also had cornea issues and dry eye, needing careful management.
7 citations
,
February 2020 in “Clinical and Experimental Dermatology” Both HLA-B and MICA are independently linked to alopecia areata.
4 citations
,
January 2023 in “Journal of Clinical Investigation” Specific mutations in a receptor cause facial abnormalities and hair loss.
5 citations
,
May 2022 in “Diagnostics” Certain genetic markers can indicate higher or lower risk for systemic lupus erythematosus.
1 citations
,
May 2022 in “European Journal of Dermatology” Longer treatment with vismodegib lowers relapse risk in basal cell carcinoma.
1 citations
,
December 2018 in “Journal of genetic medicine” A small change in the TRPS1 gene leads to a less severe form of a syndrome affecting hair, nose, and finger development.
March 2026 in “Journal of Personalized Medicine” Genetic differences affect breast cancer treatment success with tamoxifen in South African patients.
35 citations
,
October 2002 in “Biochemical and Biophysical Research Communications” The research cloned keratin 7 genes from humans, mice, and marsupials, found similarities between human and mouse genes, and discovered new areas of K7 expression in mice.
September 2022 in “Frontiers in genetics” A Chinese male with a new genetic mutation has a skin condition and severe urinary issues, with treatments having mixed success.
October 2020 in “Pediatrics in Review” The newborn was diagnosed with a rare skin disorder causing blisters, which requires careful wound care and family support.
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.
56 citations
,
December 2002 in “The Journal of Clinical Endocrinology & Metabolism” Human bone cells mainly produce a type 1 enzyme that may help regulate bone health.
1 citations
,
January 2023 in “Cutis” The paper concludes that the new medication baricitinib needs further testing in a more diverse group of patients with alopecia areata.
August 2025 in “BMC Pregnancy and Childbirth” A new EDA gene variant causes X-linked hypohidrotic ectodermal dysplasia in a Chinese family.
3 citations
,
November 2015 in “Endocrinology, Diabetes & Metabolism Case Reports” Ring Chromosome 11 may be linked to conditions like early puberty, excessive hair growth, hair loss, and type 2 diabetes.
62 citations
,
March 2017 in “Journal of Investigative Dermatology” Mutations in the ACTB gene cause Becker’s nevi and may lead to muscle issues in Becker’s nevus syndrome.
November 2018 in “The European research journal” RDW can be a useful marker for inflammation in alopecia areata patients.
10 citations
,
January 2003 in “Dermatology” The E413K mutation in the hHb6 gene causes monilethrix, a hair disorder, but doesn't show consistent symptoms.
April 2026 in “Communications Biology” The development of breeding tubercles in male zebrafish relies on a specific enzyme that processes hormones.
7 citations
,
January 2015 in “Dermatology” Two gene variations, rs6493497 and rs7176005, may be linked to female hair loss in Chinese people.
11 citations
,
May 1996 in “The Journal of clinical endocrinology and metabolism/Journal of clinical endocrinology & metabolism” The main enzyme found in pubic skin that could be targeted to treat excessive hair growth is 5 alpha-R2.
13 citations
,
June 2007 in “Journal of Dermatological Science” Researchers created a cell line to study hair growth and found specific genes affected by dihydrotestosterone.