June 2025 in “Molecular Genetics & Genomic Medicine” Severe genetic variants in children with a specific adrenal condition match predicted symptoms well, but milder variants do not.
7 citations
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May 2021 in “EBioMedicine” Increased methylation of the Filip1l gene may contribute to aggressive skin cancer.
54 citations
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April 2010 in “Baillière's best practice and research in clinical endocrinology and metabolism/Baillière's best practice & research. Clinical endocrinology & metabolism” Impaired androgen production in 46,XY DSDs causes ambiguous genitalia and requires long-term care.
Amino acid storage proteins are essential for maintaining stem cells in female fruit flies.
January 2024 in “Australasian journal of dermatology (Print)” A boy's hair turned red because of genetic mutations, not lack of zinc.
August 2019 in “Anais Brasileiros de Dermatologia” 11 citations
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October 2014 in “Gene” Researchers identified a new variant of the FGF5 gene in sheep that affects hair length.
81 citations
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June 2012 in “European journal of human genetics” Inherited ichthyoses cause widespread skin scaling and thickening due to gene mutations.
July 2025 in “Journal of Investigative Dermatology” Scarring alopecia involves increased immune cells and specific gene changes near damaged hair follicles.
109 citations
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September 2011 in “Human molecular genetics online/Human molecular genetics” New treatments targeting specific genes show promise for treating keratin disorders.
8 citations
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December 2019 in “Molecular genetics and metabolism reports” Some children in Malaysia with symptoms have either profound or partial biotinidase deficiency, and early testing and treatment are important.
September 2017 in “The journal of investigative dermatology/Journal of investigative dermatology” Transglutaminase 2 may control sebocyte maturation and lipid metabolism.
May 2012 in “Nature Genetics” Blond hair in Solomon Islanders is due to a unique genetic variant, not European ancestry.
40 citations
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May 2005 in “Journal of Cell Science” Truncated LTBP-1 disrupts TGF-β signaling, affecting hair growth.
2 citations
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July 2021 in “UNC Libraries” Mutations at Val-889 and Arg-752 disrupt key interactions in androgen receptor dimerization.
January 2025 in “Dermatology Research and Practice” Higher activity in lichen planopilaris is linked to certain immune and tissue genes.
July 2016 in “Cancer research” Mutant cells in hair follicles are influenced by their location and interactions with surrounding cells.
10 citations
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April 2013 in “Journal of Investigative Dermatology” Epidermolytic ichthyosis can be inherited in a semidominant way with mild symptoms in carriers.
3 citations
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December 2013 in “Balkan Journal of Medical Genetics” Microarray analysis helps find hidden chromosomal changes in patients with intellectual disabilities and birth defects.
36 citations
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March 2005 in “Biotechnology and Bioengineering” A new method speeds up insulin amyloid fibril growth, useful for studying diseases.
The protein's size was reduced, but more work is needed to confirm its function.
32 citations
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May 2012 in “PloS one” Thymic transplantation normalized some T-cells but not others, maintaining immune function.
54 citations
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May 2001 in “Journal of Investigative Dermatology” Excessive putrescine causes hair loss in transgenic mice by disrupting hair follicle development.
January 2024 in “SAGE Open Medical Case Reports” The brothers have congenital ichthyosis, and the older brother's eye issues are due to different genetic mutations.
April 2023 in “Journal of Investigative Dermatology” CD8+ T cells attack hair follicle stem cells, causing scarring and hair loss.
February 2021 in “PubMed” A 2-year-old girl had a hair disorder not shared by her identical twin.
29 citations
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August 2005 in “Biopolymers” L-cysteine slows down the breaking of bonds in hair due to electrostatic interactions.
6 citations
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March 2020 in “Anais Brasileiros de Dermatologia” CTLA4 gene variants are not linked to alopecia areata in Monterrey's Mexican population.
January 2004 in “Chinese Journal of Dermatology” Injecting specific oligonucleotides can change hair growth and structure by altering a gene.
128 citations
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December 2006 in “Journal of Biological Chemistry” Altering SSAT affects fat metabolism and body fat in mice.