11 citations
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December 2017 in “Orphanet Journal of Rare Diseases” A new mutation in the ST14 gene broadens the understanding of ichthyosis-hypotrichosis syndrome.
7 citations
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January 1971 in “Archives of Dermatological Research” March 2011 in “Open Archive (Karolinska Institutet)” The mouse model showed defects in adult stem cell maintenance related to Hutchinson-Gilford progeria syndrome.
26 citations
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June 2018 in “The journal of immunology/The Journal of immunology” AIRE-deficient rats developed severe autoimmune disease similar to APECED, useful for testing treatments.
18 citations
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February 1992 in “Molecular Biology Reports” A specific type II hair keratin was identified and found in hair cortex and tongue cells.
April 2018 in “Journal of Investigative Dermatology” The protein DDX6 helps keep skin cells renewing properly by controlling the production of certain other proteins and breaking down those that cause cells to mature too quickly.
11 citations
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September 2010 in “American Journal of Medical Genetics - Part A” A Turkish family with sparse hair and eyebrow loss has a mutation in the U2HR gene linked to Marie Unna hereditary hypotrichosis.
26 citations
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October 2002 in “Journal of Investigative Dermatology” A specific gene mutation causes congenital hair loss.
1 citations
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May 2025 in “Frontiers in Veterinary Science” A severe virus outbreak in yaks on the Qinghai-Tibet Plateau caused high death rates and requires targeted control measures.
June 2024 in “Frontiers in pharmacology” 2-deoxy-D-ribose gel may help regrow hair in cases of hair loss.
May 2022 in “Experimental dermatology” Trichothiodystrophy hair is structurally abnormal with protein and organization issues.
March 2024 in “Poster presentations” A woman with lupus and Kikuchi-Fujimoto disease improved with treatment.
May 2025 in “CPT Pharmacometrics & Systems Pharmacology” A 50 mg non-loading dose of ritlecitinib is safe for adults and adolescents.
4 citations
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January 2023 in “bioRxiv (Cold Spring Harbor Laboratory)” PrrH sRNA controls pyochelin gene expression in Pseudomonas aeruginosa based on heme levels.
May 2022 in “bioRxiv (Cold Spring Harbor Laboratory)” The enzyme 5α-reductase is important for proper blood vessel development during the fertility-related transformation of the uterus lining.
June 2020 in “Zenodo (CERN European Organization for Nuclear Research)” Robertsonian translocation can cause recurrent miscarriages.
6 citations
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November 2023 in “Clinical Pharmacokinetics” Ritlecitinib shows promise as a versatile treatment for various autoimmune and inflammatory diseases.
23 citations
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June 1992 in “PubMed” RAR-gamma 1 is important for normal skin maintenance and differentiation.
7 citations
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February 2012 in “Journal of cutaneous pathology” The document describes previously unreported unique skin changes in a rare genetic disorder called Hereditary mucoepithelial dysplasia.
188 citations
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June 1998 in “Molecular cell” Researchers created a mouse with the same mutation as humans with trichothiodystrophy, showing similar symptoms and confirming the condition is due to defects in DNA repair and gene activity.
January 1999 in “Journal of the European Academy of Dermatology and Venereology” RAPK is a rare skin disorder with pigmented spots, mainly on hands and feet, starting in youth.
32 citations
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February 1998 in “The journal of investigative dermatology/Journal of investigative dermatology” Two specific hair keratin genes are active during hair growth and decline as hair transitions to rest.
16 citations
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January 2005 in “The International Journal of Developmental Biology” Hex gene plays a crucial role in starting feather development in chick embryos.
69 citations
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May 2002 in “Journal of Investigative Dermatology” Congenital atrichia with papular lesions is often misdiagnosed, and new diagnostic criteria can improve accuracy.
1 citations
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November 2024 in “Cureus” Recognizing RSCC is crucial due to its aggressive nature and high risk of poor outcomes.
January 2018 in “Elsevier eBooks” 5α-reductase-2 deficiency causes ambiguous genitalia at birth and affects male sexual development, but individuals often develop male characteristics at puberty.
109 citations
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June 2011 in “Molecular and Cellular Endocrinology” Vitamin D receptor mutations can cause alopecia by affecting hair growth genes.
5 citations
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July 2020 in “JAMA Dermatology” Minoxidil solution applied twice daily improved hair growth in patients with Woolly Hair/Hypotrichosis due to LIPH gene issues, with mild side effects.
7 citations
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May 2010 in “Journal of Cutaneous Pathology” A new genetic area linked to a rare hair loss condition was found on chromosome 13 in a Chinese family.
77 citations
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March 2000 in “Journal of Investigative Dermatology” The research identified six functional hair keratin genes and four pseudogenes, providing insights into hair formation and gene organization.