August 2023 in “Acta Scientific Paediatrics” A baby from an Indian family had a rare genetic disorder causing no scalp or body hair due to a specific gene deletion.
January 2025 in “Open Life Sciences” Overexpression of the HE4 gene in mice causes eye inflammation and cloudiness.
21 citations
,
January 2006 in “Hormone Research in Paediatrics” A mutation in the VDR gene affects hair cycling without needing ligand binding.
December 2024 in “Kırıkkale Üniversitesi Tıp Fakültesi Dergisi” Chromosomal microarray analysis is important for diagnosing rare genetic variations and guiding treatment.
138 citations
,
December 1976 in “Journal of Biological Chemistry” The enzyme from human skin can cross-link proteins and needs calcium to work.
8 citations
,
March 2023 in “International Wound Journal” IGF2BP3 and other m6A-related genes are linked to keloid formation and could be potential treatment targets.
11 citations
,
July 2010 in “European Journal of Dermatology” The condition is linked to chromosome 12, but no mutations were found in the known genes.
14 citations
,
March 2018 in “The American journal of case reports” People with the same genetic mutation for Woodhouse-Sakati syndrome can have different symptoms.
9 citations
,
February 2005 in “The journal of investigative dermatology/Journal of investigative dermatology” The document concludes that the human keratin gene cluster is complex, with a need for updated naming to reflect over 50 functional genes important for hair and skin biology.
43 citations
,
September 2001 in “Annals of Neurology” Hair root analysis can effectively detect somatic mosaicism in double cortex syndrome.
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.
33 citations
,
January 2018 in “International Journal of Biological Sciences” CRISPR-Cas9 can successfully edit genes in large mammals like Cashmere goats.
6 citations
,
June 1976 in “Journal of Investigative Dermatology”
Obstructive sleep apnea can be hereditary and linked to a genetic mutation in the COL1A2 gene.
11 citations
,
February 2011 in “International Journal of Molecular Sciences” Different sPLA2 enzymes have unique roles in phospholipid metabolism and biological processes.
7 citations
,
January 2019 in “Australasian Journal of Dermatology” A genetic marker linked to a type of hair loss was found in most patients studied.
22 citations
,
November 2014 in “Proteins Structure Function and Bioinformatics” Cysteines in wool fibers are accessible and form important disulfide bonds.
May 2021 in “The FASEB Journal” The research gives new understanding on how human steroid 5α-reductases work and how drugs like finasteride inhibit them, which could help in creating new drugs.
5 citations
,
August 2012 in “Experimental Dermatology” Artemis phosphorylation at Ser516 may help regulate skin and hair structures.
5 citations
,
January 1994 in “PubMed” 29 citations
,
June 2014 in “Experimental Cell Research” EGF–FGF2 helps mouse stem cells grow and become more like nerve cells.
161 citations
,
June 1993 in “Journal of Biological Chemistry” Trichohyalin helps in hair and skin cell structure and function by binding calcium and linking proteins.
17 citations
,
June 2017 in “Gene” A rare genetic mutation found in an Indian family can be detected through prenatal screening.
Metabolic processes and key genes like FGF5, FGFR1, and RRAS significantly affect hair follicle growth in Inner Mongolian Cashmere goats.
A genetic mutation in the CDH3 gene causes hair loss and vision problems in a young Saudi girl.
26 citations
,
February 1998 in “Chemico-Biological Interactions” Scientists identified three genes important for processing certain brain chemicals, thyroid hormones, and medications.
9 citations
,
October 2022 in “Nature Communications” The DiLiCre mouse model is an effective tool for precise genome editing using light.
91 citations
,
December 2000 in “The journal of cell biology/The Journal of cell biology” Scientists successfully created mouse hair proteins in the lab, which are stable and similar to natural hair.
26 citations
,
May 2016 in “Journal of biological chemistry/The Journal of biological chemistry” sPLA2-IIE is crucial for normal hair follicle structure and skin health.
36 citations
,
July 2014 in “Neuromuscular Disorders” A patient with a larger than usual genetic mutation had a broader range of symptoms for a muscle disease.