36 citations
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January 2016 in “The journal of investigative dermatology/Journal of investigative dermatology” The document concludes that understanding genetic mutations in the PI3K-AKT-mTOR pathway can lead to better diagnosis and treatment for certain genetic skin disorders.
35 citations
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December 2017 in “Journal of Experimental Botany” AtCSLD3 and GhCSLD3 genes enhance root growth and cell elongation in plants.
June 2024 in “British Journal of Dermatology” Black women with CCCA are more likely to have uterine fibroids.
March 2024 in “Indian Journal of Dermatology” The man was diagnosed with Cronkhite-Canada syndrome, a rare disorder with GI polyps, skin issues, hair loss, and nail problems.
August 2024 in “International Journal of Women’s Dermatology” Alopecia is common in severe cases of autosomal recessive congenital ichthyosis.
January 2023 in “Indian dermatology online journal” A child with trichothiodystrophy also had autoimmune thyroiditis and anemia, which is a new finding.
June 2005 in “Journal of Investigative Dermatology” A bull with a gene mutation was asymptomatic, synthetic retinoids cause hair loss, and new therapeutic targets were identified for skin diseases.
185 citations
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December 2010 in “Archives of Biochemistry and Biophysics” Keratin gene mutations cause various skin and hair disorders, but new research offers hope for future treatments.
28 citations
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June 1998 in “Clinical Genetics” Ambras syndrome's genetic cause is unknown, as it isn't linked to androgen levels.
May 2010 in “Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature” A mutation in the KRT74 gene causes woolly hair by affecting hair texture.
86 citations
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June 1998 in “Journal of Investigative Dermatology” The hairless gene mutation causes baldness by disrupting hair follicle structure.
10 citations
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June 2011 in “Movement Disorders” THAP1 gene changes do not affect DYT1 dystonia; finasteride may help reduce tics and OCD in Tourette syndrome.
6 citations
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July 2011 in “British Journal of Dermatology” A man with KID syndrome developed a rare cancer in a long-term skin infection.
July 2024 in “Egyptian Journal of Medical Human Genetics” These gene variations are not linked to alopecia areata in Egyptians.
April 2017 in “Journal of Investigative Dermatology” Certain mutations in the KLHL24 gene cause a skin disorder by breaking down an important skin protein.
A woman with a rare hair loss condition developed skin cancer in the bald area.
September 2024 in “Portuguese Journal of Dermatology and Venereology” CCCA and LPP may be related hair loss conditions influenced by genetics and environment, needing early treatment.
10 citations
,
February 2022 in “Cancers” More research and guidelines are needed for managing prostate cancer in people with high-risk genetic mutations.
January 2013 in “International Journal of Trichology” Early diagnosis and a multidisciplinary approach are crucial for children with Trichothiodystrophy and hidden learning disorders.
11 citations
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August 2019 in “The Journal of Sexual Medicine” Women with nonclassic congenital adrenal hyperplasia experience more sexual dysfunction and distress.
1 citations
,
December 2015 in “Balkan Journal of Medical Genetics” Genetic screening can help diagnose and manage infertility in Slovenian couples.
April 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” SETDB1 is essential for controlling DNA methylation, silencing retrotransposons, and maintaining skin cell health, with its absence leading to skin inflammation and hair loss.
A new mutation in the TRPS1 gene caused Trichorhinophalangeal syndrome in a 17-year-old, highlighting the need for genetic testing.
2 citations
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September 2021 in “Orphanet Journal of Rare Diseases” People with hypohidrotic ectodermal dysplasia are more likely to experience long-term fatigue and hair loss after COVID-19.
5 citations
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August 2021 in “Experimental dermatology” Overexpressing Merkel cell virus proteins in human hair follicles can create clusters of cells that resemble Merkel cell cancer.
15 citations
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January 1991 in “Mammalian Genome” 15 citations
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May 2017 in “Journal of Cellular Biochemistry” The hairless protein is important for skin, hair, and may influence cancer development.
Early biotin treatment can reverse symptoms of congenital biotinidase deficiency.
36 citations
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July 1996 in “The journal of investigative dermatology/Journal of investigative dermatology” Mice with the 'lanceolate hair' mutation have abnormal hair and skin similar to human Netherton's syndrome.
7 citations
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May 2019 in “Journal of the Formosan Medical Association” HSD3B1 gene variant and being overweight linked to hair loss in women with polycystic ovary syndrome.