2 citations
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June 2018 in “International Journal of Pharmacological Research” Hutchinson-Gilford Progeria Syndrome caused rapid aging due to a genetic mutation, with treatments to manage symptoms.
June 2023 in “British Journal of Dermatology” Coinheritance of BRCA2 and CYLD genes may lead to new treatment options for certain cancers.
29 citations
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December 2017 in “Molecular therapy” Enzyme replacement therapy improved multiple symptoms of homocystinuria in mice.
October 2024 in “Journal of the Endocrine Society” Certain genetic variants reduce enzyme activity, contributing to non-classic congenital adrenal hyperplasia.
July 2024 in “Journal of Pediatric Endocrinology and Metabolism” Ovarian hyperthecosis should be considered in young women with severe male-like symptoms and can be managed with hormone treatments.
47 citations
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June 2013 in “Biology of blood and marrow transplantation” Mice with human fetal thymic tissue and stem cells developed symptoms similar to chronic graft-versus-host disease.
April 2020 in “The journal of investigative dermatology/Journal of investigative dermatology” Certain surgical methods are better than routine incision for hidradenitis suppurativa, topical clindamycin and acitretin are effective treatments, men with HS have a risk of skin cancer, HS patients are more likely to die from heart problems, and specific genetic markers are linked to treatment response.
3 citations
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April 2022 in “Frontiers in Physiology” Ptch2 plays a key role in controlling stem cell function and the ability to regenerate after birth.
60 citations
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December 1988 in “Journal of Biochemical Toxicology” TCDD reduces EGF receptors in the liver, affecting growth and development.
1 citations
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July 2017 in “PubMed” Two patients with Cronkhite-Canada syndrome achieved remission after treatment.
27 citations
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January 2018 in “Drug Delivery” GC10/DOX hydrogel shows promise as an effective thyroid cancer treatment.
145 citations
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May 2008 in “Cancer Science” Cancer cells often have more copies of TERT and TERC genes, which helps them grow and could affect patient outcomes.
3 citations
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May 2018 in “Experimental Dermatology” Young HS patients often have other physical and mental health issues, and research on HS covers a wide range of topics including genetics, triggers, treatments, and the need for more data.
3 citations
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April 2022 in “Cutis” CCCA is a common, scarring hair loss in Black women that needs early detection.
February 2026 in “Pediatric Dermatology” 8 citations
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June 2001 in “Journal of Biological Chemistry” A truncated protein linked to breast cancer may change cell adhesion.
113 citations
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June 2010 in “Biological Chemistry” Cathepsin L deficiency causes large, abnormal cell structures and health issues in mice.
March 2025 in “American Journal of Medical Genetics Part A” A rare genetic variant linked to skin cysts was found in blood DNA, suggesting its role in cyst formation.
A six-year-old girl with extra hair on her elbows was treated with hair removal methods.
June 2023 in “British journal of dermatology/British journal of dermatology, Supplement” Tight hairstyles can cause a rare scalp condition with thick skin folds.
October 2024 in “Journal of the Endocrine Society” Misdiagnosis led to unnecessary treatment due to a genetic mutation affecting thyroid hormone resistance.
January 2013 in “วารสารเภสัชศาสตร์อีสาน (Isan Journal of Pharmaceutical Sciences, IJPS)” Carthamus tinctorius floret extract is a safe hair growth promoter with good skin absorption.
35 citations
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October 2014 in “Wound Repair and Regeneration” The model helps understand scar contraction and develop new treatments.
75 citations
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October 1996 in “Dermatologic Clinics” Chronic Telogen Effluvium is a hair loss condition in middle-aged women that usually doesn't lead to complete baldness.
2 citations
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June 2012 in “Journal of Dermatological Science” The gene HDC is important for the development of hair follicles in newborn mice.
27 citations
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July 1997 in “PubMed” The harlequin ichthyosis mouse mutation causes thick skin and early death, resembling a human skin disorder.
8 citations
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January 1991 in “Soviet physics. Doklady” 66 citations
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October 2002 in “Human molecular genetics online/Human molecular genetics” A gene mutation in mice causes skin defects and early death.
15 citations
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May 2013 in “American Journal of Medical Genetics - Part A” People with X-linked hypohidrotic ectodermal dysplasia have no sweat ducts and less, thinner hair.
33 citations
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September 1990 in “Proceedings of the National Academy of Sciences” The study showed that a specific DNA sequence can control gene expression in hair growth areas of mice.