226 citations
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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.
May 2025 in “The Journal of Rheumatology” Atypical symptoms in lupus can indicate different kidney issues.
9 citations
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January 2014 in “Molecular Genetics and Metabolism Reports” The rhg mutation in mice affects the Oat gene, causing hair growth issues and other symptoms.
2 citations
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July 2019 in “PLOS ONE” Certain genetic variations are linked to higher liver enzyme levels in patients treated for chronic hepatitis C with specific drugs.
62 citations
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March 2017 in “Journal of Investigative Dermatology” Mutations in the ACTB gene cause Becker’s nevi and may lead to muscle issues in Becker’s nevus syndrome.
5 citations
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May 1983 in “Australian journal of biological sciences” Certain amino acid analogues can inhibit wool and hair growth and affect fiber strength.
42 citations
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September 2002 in “The Journal of Comparative Neurology” Glycine likely affects dendrites connected to hair follicle terminals in rats.
8 citations
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April 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” Certain genetic changes in the LSS gene cause a rare skin and hair condition.
April 2024 in “BMB Reports” Lack of Cisd2 disrupts calcium balance in cells, leading to poorly functioning neutrophils.
333 citations
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March 2000 in “Proceedings of the National Academy of Sciences” Overexpressing GLI-1 in mice skin can cause tumors like human basal cell carcinomas.
6 citations
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December 2023 in “Journal of Molecular Cell Biology” Removing Gsdma1/2/3 genes reduces skin cell overgrowth by blocking a specific cell pathway.
48 citations
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January 2011 in “Hormone Research in Paediatrics” The conclusion is that genetic changes in the glucocorticoid receptor can lead to conditions affecting stress response, immunity, and metabolism, requiring personalized treatment.
3 citations
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September 2013 in “Journal of the American Academy of Dermatology” A new genetic mutation linked to Hutchinson-Gilford progeria syndrome was found in China.
2 citations
,
July 1999 in “JEADV. Journal of the European Academy of Dermatology and Venereology/Journal of the European Academy of Dermatology and Venereology” Proteolytic enzymes damaged hair follicle stem cells in transgenic mice.
15 citations
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October 2012 in “Journal of child neurology” The same genetic mutation in Sjögren-Larsson syndrome can lead to different levels of severity, suggesting other factors influence the symptoms.
13 citations
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January 2018 in “Advances in experimental medicine and biology” November 2024 in “Journal of Investigative Dermatology” Dermal IgA deposition without symptoms is rare in Dermatitis herpetiformis risk groups.
January 2010 in “Acta Laboratorium Animalis Scientia Sinica” The UHS promoter is specific to mouse hair follicles.
May 2026 in “ACS Catalysis” Efficient enzyme function relies on specific residue interactions and structural coordination.
9 citations
,
March 2015 in “Journal of Microbiology and Biotechnology” Ultra-high molecular weight poly-γ-glutamic acid may help promote hair growth.
18 citations
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January 2008 in “Journal of The American Academy of Dermatology” Certain proteins and their receptors are more active during the growth phase of human hair and could be targeted to treat hair disorders.
12 citations
,
February 2021 in “Translational Psychiatry” Researchers found two new genetic variants linked to Alzheimer's disease.
324 citations
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May 2002 in “Oncogene” 9 citations
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January 2011 in “Journal of X-ray science and technology” Perming and bleaching damage hair differently, with bleached hair having more cysteic acid in the cuticle.
January 2010 in “Chinese Journal of Dermatovenereology of Integrated Traditional and Western Medicine” A unique gene mutation was found in a family with monilethrix.
January 2015 in “DSpace@MIT (Massachusetts Institute of Technology)” PHGDH promotes cancer growth by aiding cell proliferation and tumor progression.
October 2009 in “The American Journal of Gastroenterology” Isolated amylase deficiency can cause failure to thrive and should be checked with specific tests.
A new mutation in the CYP11B1 gene was found in a woman with mild hyperandrogenemia, a rare cause of non-classic congenital adrenal hyperplasia.
71 citations
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June 1993 in “Journal of Investigative Dermatology”
April 2015 in “Journal of Nutritional Therapeutics” Looser dietary restrictions can improve growth and reduce illness in methylmalonic acidemia patients.