215 citations
,
November 2000 in “Journal of Investigative Dermatology” The system allows precise control of gene expression in mouse skin, useful for studying skin biology.
26 citations
,
March 1995 in “Differentiation” A rabbit gene important for hair development was identified and detailed.
67 citations
,
August 2004 in “Endocrinology” A specific gene mutation causes vitamin D resistance, but certain vitamin D analogs might help.
November 2025 in “Frontiers in Immunology” SQSTM1 gene issues may increase the risk of alopecia areata.
November 2022 in “Journal of Investigative Dermatology” Most Recessive Dystrophic Epidermolysis Bullosa patients with a specific mutation likely have Sephardic ancestry from about 500 years ago.
26 citations
,
September 2005 in “Pharmacology Biochemistry and Behavior” 5alpha-reductase 2 is crucial for proper male brain development and sexual differentiation.
4 citations
,
January 2023 in “bioRxiv (Cold Spring Harbor Laboratory)” PrrH sRNA controls pyochelin gene expression in Pseudomonas aeruginosa based on heme levels.
31 citations
,
February 2014 in “Inflammation Research” Lower CD200R1 on certain immune cells is linked to more severe rheumatoid arthritis and immune imbalance.
September 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” New RIPK4 gene mutations were found to cause a type of skin and limb birth defect.
7 citations
,
June 2016 in “Bone Research” A Chinese family had a child with a specific gene mutation causing vitamin D-resistant rickets, but the child improved with calcium and low-dose calcitriol.
19 citations
,
May 2006 in “Clinical and Experimental Dermatology” Researchers found a new mutation causing total hair loss from birth.
7 citations
,
September 2024 in “PLANT PHYSIOLOGY” RALF22 is essential for root hair growth in response to fungal emissions in Arabidopsis.
6 citations
,
June 2011 in “British Journal of Dermatology” People with alopecia areata have higher levels of RBP4 protein and antibodies against it.
11 citations
,
January 2021 in “British Journal of Dermatology” Mutations in the AP1B1 gene cause a new syndrome with skin, hearing, and developmental issues.
4 citations
,
January 2016 in “International journal of reproduction, contraception, obstetrics and gynecology” A certain genetic variation is linked to a higher risk of polycystic ovarian syndrome.
12 citations
,
August 2019 in “BMC Medical Genetics” Certain MC4R gene variants are linked to higher BMI in obese women with PCOS but do not cause PCOS.
6 citations
,
November 2017 in “Scientific reports” The R343H mutation in the VDR gene causes vitamin D-resistant rickets with alopecia by impairing specific gene activity.
14 citations
,
February 2017 in “Scientific Reports” Certain variations of the HDAC9 gene can increase or decrease stroke risk in the Chinese population.
20 citations
,
February 2019 in “Genes” The study concludes that mutations in the AEBP1 gene can cause a form of Ehlers-Danlos syndrome and should be considered in diagnosis.
2 citations
,
September 2022 The PER3 rs772027021 SNP may cause mild skin pigmentation changes in a new subtype of dyschromatosis universalis hereditaria.
6 citations
,
January 2010 in “Neoplasma” Certain gene patterns in breast cancer are linked to how active hormone receptors are and could affect patient survival.
11 citations
,
December 2017 in “Orphanet Journal of Rare Diseases” A new mutation in the ST14 gene broadens the understanding of ichthyosis-hypotrichosis syndrome.
August 2012 in “Nature Cell Biology” The tumor suppressor BRCA2 helps in cell division by bringing key proteins to the area where cells split.
42 citations
,
April 2009 in “Human Genetics” A specific genetic mutation may increase male pattern baldness risk, especially in Europeans.
22 citations
,
June 2010 in “Experimental Dermatology” Lower MC2R expression may contribute to alopecia areata.
3 citations
,
February 2011 in “Journal of Biomedical Research/Journal of biomedical research” A new mutation in the KRT86 gene was found to cause the hair disorder monilethrix in a Han family.
Certain genetic variations are linked to hair loss in Mexican men.
8 citations
,
April 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” Certain genetic changes in the LSS gene cause a rare skin and hair condition.
January 2024 in “Kafkas Universitesi Veteriner Fakultesi Dergisi” A specific genetic variation affects wool quality in sheep.
309 citations
,
June 2001 in “Molecular and Cellular Endocrinology” Mutations in the androgen receptor gene cause androgen insensitivity, leading to female traits in genetically male individuals.