9 citations
,
May 2021 in “JEADV. Journal of the European Academy of Dermatology and Venereology/Journal of the European Academy of Dermatology and Venereology” Topical minoxidil may help treat a rare genetic hair condition with no fully effective treatments yet.
3 citations
,
June 2020 in “Open access rheumatology” A patient with Rhupus was diagnosed with Rowell syndrome and treated with various medications.
8 citations
,
June 2023 in “Acta Biochimica et Biophysica Sinica” rRSPO1 protein boosts hair growth by activating a key signaling pathway.
33 citations
,
February 2016 in “Journal of Experimental Botany” ROOT HAIR SPECIFIC 10 (RHS10) reduces the length of root hairs in Arabidopsis plants.
5 citations
,
July 2017 in “International journal of endocrinology and metabolism/International journal of endocrinology and metabolism.” Two siblings with a genetic mutation had a form of rickets that doesn't respond to vitamin D.
12 citations
,
September 2014 in “Bone” A vitamin D receptor mutation causes rickets and affects immune responses.
5 citations
,
August 1925 in “Archives of dermatology” An 8-year-old boy with Recklinghausen's Disease shows various symptoms and is from a family with close genetic ties.
A 72-year-old man was diagnosed with a rare skin form of Rosai-Dorfman disease after years of misdiagnosis.
107 citations
,
March 2014 in “BoneKEy Reports” Mutations in the vitamin D receptor cause hereditary vitamin D-resistant rickets, leading to poor bone health and requiring high calcium doses for treatment.
25 citations
,
September 2005 in “Journal of the American Academy of Dermatology” Rapp-Hodgkin syndrome, AEC, and EEC are different expressions of the same genetic disorder caused by TP63 gene mutations.
41 citations
,
April 2016 in “Journal of experimental botany” RACB in barley is crucial for cell polarity and nucleus positioning, aiding fungal infection.
67 citations
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August 2004 in “Endocrinology” A specific gene mutation causes vitamin D resistance, but certain vitamin D analogs might help.
January 1993 in “Claves de razón práctica” ROR2 is crucial for hair follicle stem cell maintenance and self-renewal.
April 2017 in “The journal of investigative dermatology/Journal of investigative dermatology” Double stranded RNA helps skin wounds heal by coordinating specific proteins and signaling pathways.
1 citations
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April 2022 in “AACE clinical case reports” A 36-year-old person with a female appearance but male chromosomes was diagnosed with a rare enzyme deficiency affecting sexual development.
June 2010 in “The Knowledge Bank (The Ohio State University)” Inhibiting retinoic acid activates WNT signaling, potentially aiding hair disorder and skin cancer treatments.
6 citations
,
October 2020 in “Frontiers in cell and developmental biology” WWOX deficiency in mice causes skin and fat tissue problems due to disrupted cell survival signals.
18 citations
,
February 2010 in “Odontology” The document concludes that Rabson-Mendenhall syndrome requires novel treatments for insulin resistance and emphasizes the importance of dental care in affected patients.
1 citations
,
July 2024 in “JCEM Case Reports” A new genetic variant of Woodhouse-Sakati syndrome was found in two adult sisters in Russia.
5 citations
,
January 2012 in “Indian Journal of Dermatology Venereology and Leprology” Werner's syndrome causes early aging and increases cancer risk, requiring early diagnosis and symptom management.
April 2019 in “Journal of Investigative Dermatology” Removing REDD1 in mice increases skin fat by making fat cells larger and more numerous.
8 citations
,
August 2015 in “Journal of dermatological science” Rhododendrol in skin-whitening products can cause skin depigmentation and immune reactions.
July 2025 in “bioRxiv (Cold Spring Harbor Laboratory)” A new Wnt surrogate specifically targets the Frizzled7 receptor, promoting organoid formation and hair growth.
September 2015 in “Turkish Journal of Endocrinology and Metabolism” Consider Werner syndrome in young patients with early aging signs and metabolic issues.
1 citations
,
April 2021 in “bioRxiv (Cold Spring Harbor Laboratory)” RD26 controls root hair growth during drought by repressing key genes, helping plants save energy.
7 citations
,
April 2000 in “Mammalian Genome” A new mutation in mice causes crooked whiskers and messy hair.
5 citations
,
November 2021 in “Saudi medical journal” The document reports three sisters with Woodhouse-Sakati syndrome showing typical symptoms and unusual gynecological anomalies.
February 2018 in “BMJ case reports” An 18-year-old woman was diagnosed with a rare skin condition called Pityriasis rubra pilaris.
11 citations
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January 2012 in “Journal of cell science” Rac1 is essential for proper hair structure and color.
January 2024 in “Ankara City Hospital Medical Journal” Rhupus is a complex syndrome that combines rheumatoid arthritis and lupus, making diagnosis challenging.