February 2024 in “International journal of medical science and clinical research studies” CCCA is a scarring hair disorder mainly affecting people of African descent, needing better awareness and treatment.
October 2024 in “Journal of the Endocrine Society” Certain genetic variants reduce enzyme activity, contributing to non-classic congenital adrenal hyperplasia.
5 citations
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May 2008 in “Annals of saudi medicine/Annals of Saudi medicine” Cabergoline helped a boy with Cushing disease get better after surgery and radiotherapy didn't work.
5 citations
,
January 2021 in “Indian Journal of Critical Care Medicine” Testing for the NUDT 15 variant is crucial before starting azathioprine, especially in Asians.
14 citations
,
November 2022 in “Development” Controlling transposable elements is crucial for successful tissue regeneration.
2 citations
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July 2019 in “PLOS ONE” Certain genetic variations are linked to higher liver enzyme levels in patients treated for chronic hepatitis C with specific drugs.
May 2026 in “Research Square” The polyG fragment in Hoxc13 protein helps evolve mammalian skin and hair by enhancing gene interactions.
9 citations
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February 2018 in “The Journal of Dermatology” A new mutation in the LIPH gene was found to cause a rare hair disorder in a Japanese boy.
188 citations
,
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.
52 citations
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February 2012 in “PloS one” Lack of Ctip2 in skin cells delays wound healing and disrupts hair follicle stem cell markers in mice.
5 citations
,
May 2013 in “The American Journal of Dermatopathology” The author now believes tricholemmal carcinoma is a rare type of infundibular squamous cell carcinoma and more research is needed on these tumors.
1 citations
,
November 2024 in “Cureus” Recognizing RSCC is crucial due to its aggressive nature and high risk of poor outcomes.
39 citations
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September 2018 in “American Journal of Medical Genetics Part A” A new genetic mutation in the ODC1 gene causes developmental delay and other symptoms in a young girl.
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.
November 2021 in “Chattagram Maa-O-Shishu Hospital Medical College Journal” Most patients with Cutaneous Lupus Erythematosus are young females, and dermatologists play a key role in diagnosis.
150 citations
,
June 1999 in “Oncogene”
January 2025 in “Turkish Journal of Cerebrovascular Diseases” CARASIL can cause different symptoms even with the same genetic mutation.
21 citations
,
September 1968 in “Cancer” Citrulline in certain skin tumors suggests they mimic hair growth, helping distinguish them from other cancer types.
November 2024 in “Journal of Investigative Dermatology” Hair evaluation is crucial for early diagnosis and management of ARCI, as hair loss often indicates severity.
April 2019 in “Journal of Investigative Dermatology” Researchers fixed gene mutations causing a skin disease in stem cells, which then improved skin grafts in mice.
6 citations
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August 2022 in “Dermatologic therapy” PRP therapy can temporarily grow hair in CCCA patients but isn't a permanent cure.
37 citations
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August 2016 in “Clinical, Cosmetic and Investigational Dermatology” The document concludes that better treatments for CCCA are needed and more research is required to understand its causes related to hairstyling and genetics.
26 citations
,
September 2020 in “Journal of the European Academy of Dermatology and Venereology” A certain genetic variant in the androgen receptor may predict the severity of COVID-19 in men.
3 citations
,
June 2018 in “Internal Medicine” Recombinant thrombomodulin can effectively treat severe complications in Cronkhite-Canada syndrome.
May 2021 in “Histochemistry and Cell Biology” The May issue discussed publishing agreements and four studies on cholesterol in hair, cancer cell changes, hormones in the uterus, and skin protein effects.
74 citations
,
October 2012 in “The American Journal of Human Genetics” Mutations in the HOXC13 gene cause hair and nail development issues.
19 citations
,
June 2020 in “BMC Cancer” Trichilemmal carcinoma shares genetic changes with other skin cancers, suggesting similar causes and potential treatments.
91 citations
,
May 2005 in “The Journal of Clinical Endocrinology & Metabolism” A new mutation in the human glucocorticoid receptor reduces its function and causes resistance to glucocorticoids.
1 citations
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January 2022 in “Research Square (Research Square)” CRISPR/Cas9 editing in spinach affects root hair growth by altering specific genes.
A new genetic mutation was found causing hair and eye issues in a boy.