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.
34 citations
,
July 1958 in “Biochimica et Biophysica Acta” November 2011 in “Molecular Cancer Therapeutics” The Hedgehog signaling pathway is linked to cancer development, and targeting it with inhibitors shows promise but faces challenges like resistance.
22 citations
,
September 2003 in “Journal of Investigative Dermatology” New mutations in the EBP gene cause CDPX2, affecting bones, skin, eyes, and hair, with females generally less affected than males.
126 citations
,
January 1987 in “Current topics in developmental biology/Current Topics in Developmental Biology” Different keratin proteins are expressed in various epithelial cells at different stages, affecting cell structure and function.
88 citations
,
August 2014 in “PLOS genetics” Syndecan-1 is essential for maintaining skin fat and preventing cold stress.
28 citations
,
August 1992 in “Differentiation” A new pair of mouse keratins, 65 kD and 48 kD, are found in specific skin areas and are linked to a unique skin differentiation type.
April 1996 in “Journal of Dermatological Science” 116 citations
,
April 1986 in “The journal of cell biology/The Journal of cell biology” Trichohyalin is a protein in hair follicles that helps form hair filaments.
April 2026 in “Apollo (University of Cambridge)” SOX9 is crucial for cell development and repair but can cause fibrosis and cancer if misregulated.
53 citations
,
August 2010 in “Molecular Carcinogenesis” Slug is crucial for skin health, hair growth, and healing.
22 citations
,
April 2012 in “The American journal of pathology” Loss of Msx2 function causes eye development issues similar to Peters anomaly.
28 citations
,
May 2000 in “Proceedings of the National Academy of Sciences” The Walleye dermal sarcoma virus cyclin causes excessive skin cell growth in mice.
25 citations
,
February 2021 in “Diabetes” Dock5 is important for skin healing and could help treat diabetic wounds.
8 citations
,
March 2010 in “The journal of investigative dermatology/Journal of investigative dermatology” The 14-3-3σ gene is essential for preventing hair loss.
14 citations
,
November 2007 in “Journal of Dermatological Science” Vitamin C derivative may promote hair growth by activating specific genes.
1 citations
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November 2023 in “International Journal of Molecular Sciences” SOX18 helps sheep hair cells grow by activating a specific cell growth pathway.
June 2023 in “bioRxiv (Cold Spring Harbor Laboratory)” Scientists created cell lines to study a genetic skin disorder using CRISPR technology.
April 2017 in “Journal of Investigative Dermatology” The hair follicle dermal sheath is essential for hair shedding and needs to communicate with the outer root sheath for normal hair growth cycles.
January 1995 in “Seoul National University Open Repository (Seoul National University)” SSO helps in skin protection and keratinization.
Defective protein folding due to a mutation is key in ANE syndrome.
36 citations
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December 2004 in “British Journal of Dermatology” The cyst had unusual keratin spherules and resembled bone marrow.
January 2018 in “bioRxiv (Cold Spring Harbor Laboratory)” Researchers found key regions in the mouse hairless gene that control its activity in skin and brain cells, affecting hair follicle function.
December 2021 in “OPAL (Open@LaTrobe) (La Trobe University)” BBS7 is crucial for maintaining healthy periodontal ligaments by supporting Shh signaling.
56 citations
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February 2012 in “Developmental biology” Sostdc1 controls the size and number of hair and mammary gland structures.
23 citations
,
April 2003 in “Journal of Structural Biology” Keratin structure changes during keratinization, but the exact model remains uncertain.
14 citations
,
February 2011 in “Experimental dermatology” A protein called COMP is part of the connective tissue in normal human hair follicles and may be important for hair health.
5 citations
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September 2021 in “Journal of Molecular Histology” LHX2, with other markers, can identify hair placodes in rats.
17 citations
,
May 2013 in “Journal of Investigative Dermatology” Mutations in β1 integrins cause embryonic death but have milder effects on skin.
50 citations
,
June 1993 in “European journal of biochemistry” Intermediate filaments are crucial for cell structure and function, regulated by specific genes and proteins.