July 2025 in “Clinical Case Reports” A new genetic mutation in the TRPS1 gene causes Trichorhinophalangeal Syndrome, leading to specific hair, dental, and bone issues.
March 2024 in “Research Square (Research Square)” The TT genotype of a specific SNP in sheep is linked to better wool quality.
5 citations
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December 2017 in “The Journal of Dermatology” A new gene mutation caused a man's rare skin condition, Schöpf-Schulz-Passarge syndrome.
4 citations
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July 2022 in “Veterinary medicine international” Mange in rabbits is a serious disease that can spread to humans and is treated with medications and supportive care.
11 citations
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October 2021 in “Orphanet journal of rare diseases” Patients with RASopathies are at risk for autoimmune disorders and should be routinely screened.
21 citations
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March 2015 in “Neurological Sciences” A new genetic mutation linked to CARASIL syndrome and small artery disease was found in a Chinese family.
January 2025 in “SSRN Electronic Journal”
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.
75 citations
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July 2016 in “New phytologist” The protein RSL4 is crucial for making root hairs longer by controlling genes related to cell growth.
1 citations
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July 2024 in “JCEM Case Reports” A new genetic variant of Woodhouse-Sakati syndrome was found in two adult sisters in Russia.
February 2019 in “bioRxiv (Cold Spring Harbor Laboratory)” The gene Prss53 affects hair shape and bone development in rabbits.
4 citations
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June 2020 in “DOAJ (DOAJ: Directory of Open Access Journals)” A woman with Rhupus and Rowell syndrome was treated successfully with medication adjustments.
2 citations
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November 2004 in “Blood” RXRa is crucial for Th2 immune cell development and may link nutrition to immune health.
January 2024 in “Ankara City Hospital Medical Journal” Rhupus is a complex syndrome that combines rheumatoid arthritis and lupus, making diagnosis challenging.
January 2010 in “China Animal Husbandry & Veterinary Medicine” RORs may influence cashmere growth cycles.
January 2024 in “Ankara City Hospital Medical Journal” Rhupus is a complex syndrome that is hard to diagnose due to unclear clinical criteria.
3 citations
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December 2022 in “The Neurologist” CARASIL, a rare genetic disorder, was confirmed in an Arabic woman, highlighting its rarity and need for stroke prevention.
June 2026 in “bioRxiv (Cold Spring Harbor Laboratory)” AQB reduces harmful skin changes in systemic sclerosis.
A 29-year-old woman with symptoms of both lupus and rheumatoid arthritis improved with specific medications.
A new mutation in the TRPS1 gene caused Trichorhinophalangeal syndrome in a 17-year-old, highlighting the need for genetic testing.
11 citations
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April 2019 in “Bioscience Reports” Certain genetic variations in the RAB5B gene are linked to a higher risk of polycystic ovary syndrome in Chinese Han women.
September 2023 in “Journal of The American Academy of Dermatology” Raman spectroscopy is promising for measuring and enhancing drug delivery in alopecia treatments.
November 2025 in “Frontiers in Immunology” SQSTM1 gene issues may increase the risk of alopecia areata.
91 citations
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November 2008 in “Journal of biological chemistry/The Journal of biological chemistry” DGAT1 enzyme is crucial for healthy skin and hair by regulating retinoid levels.
44 citations
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May 1998 in “PubMed” The retinoid receptor antagonist effectively disrupts vitamin A-related development in embryos.
41 citations
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October 2019 in “Biomolecules” Retinoic acid can either maintain stem cells or make them specialize, depending on the cell type.
39 citations
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February 2011 in “The Prostate/The prostate” Some men's prostate tissues have low enzyme levels due to genetic changes, possibly affecting treatment for prostate enlargement.
30 citations
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May 2019 in “Journal of the European Academy of Dermatology and Venereology” 28 citations
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September 1995 in “Biochemistry and Cell Biology” Merkel cells are more densely found in hairless skin areas like palms and soles.