27 citations
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October 2013 in “Experimental dermatology” Scleroderma patients have lower hair miR-29a levels.
11 citations
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April 2012 in “Journal of Investigative Dermatology” A specific mutation in PA-PLA1α causes abnormal hair growth.
6 citations
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December 2004 in “Anais Brasileiros de Dermatologia” Some family members had a condition with both loose hair and unique eye changes, possibly indicating a new type of ectodermal dysplasia.
20 citations
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September 2003 in “Journal of Investigative Dermatology” Targeting MIG and MCP-1 may help treat inflammation in alopecia areata.
October 2023 in “Lithuanian University of Health Sciences” The TG5 gene affects beef cattle weight, and the CC genotype leads to higher weights.
17 citations
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September 2018 in “Matrix Biology” Laminin-511 is essential for proper melanocyte movement and development in mice.
22 citations
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February 2012 in “Journal of Investigative Dermatology” A specific gene mutation causes severe skin and nail issues and hair loss.
75 citations
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March 1998 in “Journal of Investigative Dermatology” The transgene likely activated an oncogene or interrupted a tumor suppressor gene, causing melanoma in mice.
14 citations
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April 2011 in “Journal of the American Academy of Dermatology” Researchers found a gene mutation responsible for a rare hair loss condition.
13 citations
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August 2005 in “Journal of Investigative Dermatology Symposium Proceedings” Mutations in the DSG4 gene cause fragile, sparse hair in humans, mice, and rats.
4 citations
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May 1998 in “PubMed” The Bsk mutation doesn't involve keratin gene recombination and its cause is unknown.
January 2026 in “Animal Genetics” A genetic variant in the GJB6 gene likely caused the Labrador's paw pad condition.
12 citations
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January 2000 in “Biochemical and Biophysical Research Communications” The study mapped keratin 15 and 19 genes, aiding future genetic disorder research.
8 citations
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October 2019 in “Immunological investigations” The AIRE gene variant rs2075876 is linked to a higher risk of alopecia areata in males.
A TNFAIP3 gene mutation can cause unusual and varied symptoms of lupus and Sjogren's syndrome.
1 citations
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November 2021 in “Biomedicines” Understanding how acne develops in different diseases could lead to new treatments.
January 1995 in “Adolescent and pediatric gynecology” Mutations in the androgen receptor gene cause different levels of androgen insensitivity, making it hard to create simple tests for the condition.
January 2022 in “International journal of dermatology and venereology” A Chinese man with KID syndrome had a new mutation in the GJB2 gene.
April 2018 in “The journal of investigative dermatology/Journal of investigative dermatology” miR-486 may help prevent hair loss in alopecia areata.
May 2025 in “Dermatology Reports” A genetic mutation in the LIPH gene causes a rare hair disorder with sparse, curly hair.
10 citations
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July 2021 in “Archiv für Pathologische Anatomie und Physiologie und für Klinische Medicin” LRIG1 is linked to better survival in Merkel cell carcinoma.
33 citations
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September 1987 in “American Journal of Medical Genetics” Uncombable hair is inherited dominantly with complete penetrance.
22 citations
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May 2007 in “Molecular Biotechnology” 4 citations
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October 2001 in “Mycoses” A young cat had a rare fungal infection caused by Microsporum gypseum.
1 citations
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October 2023 in “BMC Genomics” miRNAs in the Dlk1-Gtl2 region may improve lamb fur quality.
October 2024 in “Journal of the Endocrine Society” Ayme-Gripp Syndrome was confirmed in a woman through genetic testing, highlighting the need to consider rare genetic conditions in diagnoses.
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.
9 citations
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November 2022 in “Biology” Key genes and pathways influence wool traits in Merino sheep.
June 2024 in “Skin Research and Technology” hsa-miR-193a-5p may help diagnose and treat alopecia areata.
January 2007 in “Revista del Centro Dermatológico Pascua” A 2-year-old boy was diagnosed with a rare genetic condition causing fragile hair, intellectual issues, and short stature.