September 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” A new mutation in the STING protein causes a disease with lupus-like symptoms and responds well to a specific inhibitor treatment.
11 citations
,
December 2017 in “Orphanet Journal of Rare Diseases” A new mutation in the ST14 gene broadens the understanding of ichthyosis-hypotrichosis syndrome.
January 2025 in “PLoS ONE” ING5 is crucial for stem cell maintenance and preventing certain cancers.
4 citations
,
January 1993 in “Clinical Chemistry and Laboratory Medicine (CCLM)” The new method is 1000 times more sensitive for measuring hair growth.
181 citations
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January 2009 in “Nature Genetics” Certain mutations in a hair growth-related gene cause a type of genetic hair loss.
12 citations
,
August 1984 in “Genetics Research” The N gene affects the protein makeup of mouse hair.
MFN2 mutations cause mitochondrial problems, unusual fat distribution, and low leptin despite high body fat.
October 2014 in “Archivio Istituzionale della Ricerca (Universita Degli Studi Di Milano)” A new type of nerve cell involved in itch perception was discovered.
September 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” Not having enough cystatin M/E protein causes less hair growth and dry skin.
5 citations
,
October 2021 in “American Journal of Medical Genetics Part A” A new genetic variant causes BRESHECK syndrome by disrupting cell growth and stress response.
11 citations
,
December 2014 in “The American journal of pathology” A gene deletion in mice causes weak protein, immune issues, hair loss, airway problems, and wasting disease.
21 citations
,
March 2003 in “Clinical and Experimental Dermatology” Mutations in the hHb6 gene cause the hair disorder monilethrix.
15 citations
,
May 2014 in “Journal of Biological Chemistry” A chimeric keratin partially improved skin structure in mice lacking keratin 5, but didn't fully restore normal skin.
29 citations
,
August 1999 in “Journal of Investigative Dermatology” New mutations in hair keratin genes cause the rare hair disorder monilethrix.
34 citations
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November 1998 in “Journal of Investigative Dermatology” A common mutation in the hHb6 gene is linked to monilethrix, but other factors may also play a role.
9 citations
,
November 2019 in “Cell calcium” The STIM1 R304W mutation in mice leads to bone changes and teeth hair growth.
58 citations
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July 2005 in “Molecular and Cellular Biology” A specific gene segment can make mouse skin cells glow, helping study hair growth and gene effects.
20 citations
,
November 2003 in “American Journal Of Pathology” Fibroblasts from healthy donors can prevent changes seen in recessive epidermolysis bullosa simplex.
2 citations
,
June 2023 in “Journal of cell science” Mutations in iRhom2 affect hair and skin in mice and are linked to esophageal cancer, with ADAM17 playing a crucial role.
52 citations
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June 2014 in “PLANT PHYSIOLOGY” Arabidopsis plants adjust gene expression to maintain balance when auxin pathways are disrupted.
4 citations
,
October 2021 in “Journal of Clinical Medicine” Carriers of a specific gene mutation have subtle skin changes without visible symptoms.
13 citations
,
May 2011 in “Bioorganic & Medicinal Chemistry” Changing the 6-position on benzopyran molecules affects insulin release, with some compounds showing strong inhibitory effects.
1 citations
,
July 1990 in “European Journal of Pharmacology”
July 2023 in “bioRxiv (Cold Spring Harbor Laboratory)” The Arabidopsis rhd2 mutant is more sensitive to drought because of changes in cell membrane proteins and cell structure.
April 2017 in “Journal of Investigative Dermatology” Targeted siRNA therapy may be a promising treatment for KID syndrome by reducing mutant gene expression and improving cell communication.
35 citations
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January 2006 in “Cancer Research” Mice with extra PKCδ resist chemical-induced skin cancer but not UV-induced.
100 citations
,
November 1997 in “Human Genetics” A new mutation in the hHb1 keratin gene is linked to the hair disorder monilethrix.
UBC13 and UBC22 enzymes are important for plant growth and development in Arabidopsis thaliana.
4 citations
,
May 1998 in “PubMed” The Bsk mutation doesn't involve keratin gene recombination and its cause is unknown.
16 citations
,
July 2021 in “American Journal of Medical Genetics Part A” Mutations in the LSS gene cause hair loss and may affect brain development, with varying severity.