Ribonucleotide excision repair is crucial to prevent skin cancer.
260 citations
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July 2010 in “Cell” Mutations in the SRD5A3 gene cause a new type of glycosylation disorder by blocking the production of a molecule necessary for protein glycosylation.
May 2024 in “Animal genetics” A cat's poor wound healing was linked to a genetic deletion in the COL5A1 gene.
17 citations
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June 2019 in “BMC genomics” Non-coding RNAs help control hair growth in cashmere goats.
November 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” Different types of PPARγ are found in varying amounts in human skin and its parts, which could affect how skin treatments work.
13 citations
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January 2013 in “Applied and Environmental Microbiology” A gene in Sebekia benihana, CYP-sb21, is needed for a specific reaction on the drug Cyclosporine A, which could be important for hair growth without affecting the immune system.
5 citations
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March 2019 in “Journal of lipid research” New probes were created to effectively measure specific enzymes involved in fat metabolism, which could help develop new drugs.
8 citations
,
August 2018 in “Journal of Investigative Dermatology” 45 citations
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March 2001 in “Journal of Investigative Dermatology” A new protein, mK6irs, is found in specific hair layers and may help understand hair growth and diseases.
ANE syndrome is caused by a mutation in the RBM28 protein that disrupts ribosome assembly.
24 citations
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February 2011 in “The American journal of pathology” AIRE protein, defective in APECED patients, is found in skin and hair cells and interacts with cytokeratin 17.
29 citations
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December 2004 in “Developmental biology” cDermo-1 causes dense skin, feathers, and scales in chickens.
99 citations
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March 2013 in “Journal of Investigative Dermatology” Mutations in the ABCB6 gene cause Dyschromatosis Universalis Hereditaria.
37 citations
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August 2016 in “Clinical, Cosmetic and Investigational Dermatology” The document concludes that better treatments for CCCA are needed and more research is required to understand its causes related to hairstyling and genetics.
7 citations
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July 2014 in “Reproductive Biomedicine Online” The length of CAG repeats in the androgen receptor gene is linked to ovarian reserve but does not affect how the ovaries respond to stimulation.
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.
28 citations
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February 2007 in “Cancer Research” Blocking certain proteins in mouse skin can reduce and shrink skin tumors.
31 citations
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October 1992 in “PubMed” A mycobacterial protein shares a similar region with a human skin protein, possibly affecting skin diseases.
822 citations
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January 2021 in “Genome biology” scMC effectively separates biological signals from technical noise in single-cell genomics data.
June 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” The HoxC gene cluster and its enhancers are essential for developing hair and nails in mammals.
22 citations
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September 2014 in “JAMA dermatology” Ichthyosis with confetti is a genetic skin disorder with consistent ectodermal malformations and various KRT10 gene mutations.
1 citations
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November 2018 in “bioRxiv (Cold Spring Harbor Laboratory)” Signals from skin cells controlled by Rac proteins help turn certain precursor cells into white fat cells.
70 citations
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September 2017 in “Expert opinion on therapeutic patents” The review suggests that while many AKR1C3 inhibitors show promise for treating certain cancers, more research is needed to confirm their effectiveness in humans.
7 citations
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February 2014 in “Talanta” Researchers developed a method to identify and analyze cyclosporin compounds and their structures effectively.
12 citations
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March 2004 in “International Journal of Dermatology” A woman with X-linked chronic granulomatous disease developed lupus-like skin lesions, improved with treatment, suggesting a unique skin condition in carriers.
46 citations
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May 1995 in “Proceedings of the National Academy of Sciences” A specific gene region can control targeted and responsive gene expression in mice, useful for skin disorder treatments.
20 citations
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March 2014 in “Molecular Endocrinology” NFIB and STAT5 work together to control specific genetic programs in cells.
49 citations
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October 1989 in “Genomics” Type I keratin genes are closely linked to the rex locus on mouse chromosome 11, affecting hair development.
10 citations
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February 2021 in “PLoS biology” Corin helps control salt and sweat release in sweat glands.
2 citations
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January 2014 in “Case Reports in Clinical Medicine” Cronkhite-Canada syndrome is a rare condition causing gut polyps, hair loss, skin changes, and nail issues, often with a poor outlook.