April 2017 in “The journal of investigative dermatology/Journal of investigative dermatology” The study identified key genes and pathways linked to hair disorders, aiding precision medicine.
82 citations
,
July 2012 in “Brain pathology” High LGR5 levels in glioblastoma indicate poor prognosis and are essential for cancer stem cell survival.
September 2024 in “Genes” CRABP1 boosts hair cell growth in Hu sheep by affecting key genes.
Ribonucleotide excision repair is crucial to prevent skin cancer.
226 citations
,
May 2004 in “Journal of Biological Chemistry” Collagen XXII is a marker for tissue junctions, aiding in structural integrity and found in muscles, heart, skin, and arthritic joints.
Loss of the p53 gene alone causes tumors, and losing both p53 and Rb genes speeds up aggressive skin cancer.
20 citations
,
December 1999 in “Journal of Investigative Dermatology” Mutations in the hHb6 gene cause the hair disorder monilethrix.
99 citations
,
March 2013 in “Journal of Investigative Dermatology” Mutations in the ABCB6 gene cause Dyschromatosis Universalis Hereditaria.
14 citations
,
September 1999 in “Mammalian genome” The scraggly mutation causes hair loss and skin defects in mice.
39 citations
,
October 2012 in “Familial cancer” New therapies for Birt–Hogg–Dubé syndrome are being developed based on understanding the FLCN gene's role.
June 2024 in “British Journal of Dermatology” Black women with CCCA are more likely to have uterine fibroids.
3 citations
,
August 2021 in “Research Square (Research Square)” The most common sign of aging at the gene level is more Ectodysplasin A2 Receptor (EDA2R) being made.
3 citations
,
May 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” Skin lesions in Carney Complex are caused by a gene change in some skin cells that leads to increased pigmentation and may lead to tumors.
62 citations
,
October 2018 in “Journal of pathology” Keratin 17 is linked to various diseases, including cancer and skin conditions, and may be a target for diagnosis and treatment.
30 citations
,
January 2013 in “Human Mutation” A mutation in the HOXC13 gene causes hair and nail problems in a Syrian family.
October 2023 in “Psychiatry research. Case reports” A new HRAS gene variant may cause a range of symptoms including intellectual disability and psychiatric issues.
April 2019 in “Journal of Investigative Dermatology” The PROCLIPI study found markers that help predict outcomes in skin lymphoma patients.
17 citations
,
November 2017 in “Asian-Australasian journal of animal sciences” Certain gene mutations are linked to wool quality in sheep and could help in breeding for better wool.
December 2023 in “American journal of medical genetics. Part A” A new syndrome was linked to two new genetic changes in the MBTPS1 gene in a 14-year-old girl.
62 citations
,
April 2008 in “Neurobiology of aging” Scientists found a gene in mice that causes early hearing loss.
3 citations
,
December 2022 in “The Neurologist” CARASIL, a rare genetic disorder, was confirmed in an Arabic woman, highlighting its rarity and need for stroke prevention.
2 citations
,
May 2023 in “Indian Journal of Dermatology Venereology and Leprology” A new genetic mutation in the CAST gene may link PLACK syndrome to alopecia areata.
8 citations
,
December 2009 in “Journal of The European Academy of Dermatology and Venereology” Researchers found a new mutation in the FERMT1 gene in a Spanish family with Kindler syndrome.
High CCL11 levels may indicate poor response to baricitinib in severe alopecia areata.
11 citations
,
July 2014 in “Gene” The S250C variant in a gene may cause autoimmunity and immunodeficiency by impairing protein function.
June 2024 in “Synthetic and systems biotechnology” A fragment of human type XVII collagen shows great potential for skin health and wound healing.
42 citations
,
April 2009 in “Human Genetics” A specific genetic mutation may increase male pattern baldness risk, especially in Europeans.
3 citations
,
February 2022 in “Frontiers in cell and developmental biology” A specific RNA molecule, circCOL1A1, affects the growth and quality of goat hair by interacting with miR-149-5p and influencing cell growth pathways.
54 citations
,
November 2001 in “Urology” The length of the CAG repeat in the androgen receptor gene affects the risk and progression of prostate cancer, BPH, infertility, and undermasculinized genitalia.
October 2022 in “Research Square (Research Square)” Key genes linked to immune response are highly active in lupus-affected hair follicles.