9 citations
,
July 2010 in “British Journal of Dermatology” The document suggests a rare skin condition might be caused by a genetic phenomenon.
January 2026 in “Journal of Clinical and Investigative Dermatology” A father and son in Yemen have a genetic condition causing hair loss and nail problems.
31 citations
,
March 1963 in “American journal of diseases of children” Acrodermatitis enteropathica is a rare inherited disorder causing skin issues, diarrhea, and hair loss.
TLR2 helps control hair growth and regeneration, and its reduction with age or obesity can impair hair growth.
3 citations
,
December 2023 in “International Journal of Nanomedicine” Repaglinide-loaded liponiosomal hybrids improve blood sugar control and insulin release better than regular Repaglinide.
6 citations
,
April 2017 in “Experimental dermatology” CD80CD86 deficiency causes hair loss by disrupting regulatory T cells.
16 citations
,
March 2011 in “Ophthalmic genetics” A patient with Birt-Hogg-Dubé Syndrome also had choroidal melanoma, suggesting the need for careful eyelid exams in such patients.
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.
21 citations
,
April 2004 in “Australasian Journal of Dermatology” A 3-year-old girl has a rare condition causing sparse hair and nail issues, with minimal improvement from treatment.
A man with a rare lung-focused form of hypereosinophilic syndrome improved with steroid treatment.
1 citations
,
May 2023 in “Journal of neuroendocrinology” DAVID syndrome is a condition with immune system and hormone deficiencies, needing early diagnosis to avoid serious complications.
September 1997 in “Clinical and Experimental Dermatology” 1 citations
,
July 2021 in “Acta dermatovenerologica Croatica” Adalimumab significantly improved symptoms and quality of life in two patients with Hidradenitis Suppurativa.
October 2025 in “Dermatology and Therapy” Ritlecitinib is being tested for effectiveness and safety in treating severe alopecia areata.
277 citations
,
July 2002 in “Molecular Endocrinology” Removing part of the vitamin D receptor stops vitamin D from working properly.
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.
22 citations
,
August 2021 in “Frontiers in medicine” Immune cells in Hidradenitis suppurativa become more inflammatory and may be important for treatment targets.
20 citations
,
October 1995 in “Biochimica et Biophysica Acta (BBA) - Gene Structure and Expression” hHb1, hHb3, and hHb6 mRNAs start expressing at the same time in hair follicles.
48 citations
,
February 2016 in “Scientific Reports” Researchers created rat liver stem cells that could help repair liver failure in rats and may be useful for studying human liver diseases.
March 2021 in “Medico-Legal Update” The androgen receptor gene doesn't affect women with recurrent spontaneous abortions, but having a mutant genotype might protect against it.
63 citations
,
November 1999 in “British journal of dermatology/British journal of dermatology, Supplement” Hair sensitivity to androgens is partly controlled by specific enzyme expressions in different hair areas.
15 citations
,
October 2012 in “Journal of child neurology” The same genetic mutation in Sjögren-Larsson syndrome can lead to different levels of severity, suggesting other factors influence the symptoms.
9 citations
,
July 2007 in “Circulation Research” Defects in certain proteins cause major heart abnormalities during early development.
January 1987 in “Toxicological sciences” SMR-2 and SMR-6 are much more toxic than retinoic acid, causing severe symptoms and organ damage in mice.
November 2025 in “Journal of Investigative Dermatology” BTNL2 helps protect hair follicles from immune attacks.
5 citations
,
June 2001 in “Annals of Internal Medicine” Rituximab effectively treated a woman's bone lymphoma that was resistant to other treatments.
January 2012 in “RWTH Publications (RWTH Aachen)” pdHGF speeds up wound healing and hair growth.
June 2025 in “Molecular Genetics & Genomic Medicine” Severe genetic variants in children with a specific adrenal condition match predicted symptoms well, but milder variants do not.
July 2025 in “Human Genomics” New LSS gene variants help understand congenital hypotrichosis 14 better.
29 citations
,
September 2018 in “Journal of the American Heart Association” EP 2 receptor is essential for heart repair by helping macrophages work properly.