1 citations,
March 2023 in “Frontiers in Cardiovascular Medicine” A specific gene variant is linked to heart disease, increased heart muscle, curly hair, and thick skin on palms and soles.
189 citations,
July 2009 in “The Journal of clinical investigation/The journal of clinical investigation” Epidermolysis bullosa simplex causes easily blistered skin due to faulty skin cell proteins, leading to new treatment ideas.
23 citations,
February 2015 in “The American journal of pathology” Keratosis pilaris is often linked to genetic mutations and causes skin and hair abnormalities, regardless of those mutations.
22 citations,
September 2014 in “JAMA dermatology” Ichthyosis with confetti is a genetic skin disorder with consistent ectodermal malformations and various KRT10 gene mutations.
11 citations,
November 1998 in “Journal of dermatological science” Knocking out certain genes in mice helps understand skin and hair growth problems.
6 citations,
August 2022 in “The Italian Journal of Pediatrics/Italian journal of pediatrics” New genetic mutations linked to rare skin disorders were found in three newborns.
277 citations,
July 2002 in “Molecular Endocrinology” Removing part of the vitamin D receptor stops vitamin D from working properly.
138 citations,
November 2015 in “Journal of Pharmacology and Experimental Therapeutics” Protoporphyrin IX is useful in cancer treatment but can cause health problems if not properly regulated.
31 citations,
May 2021 in “Journal of endocrinological investigation” APS-1 in Italy shows diverse AIRE mutations and various autoimmune issues.
4 citations,
December 2022 in “International Journal of Molecular Sciences” Zinc is crucial for skin health and treating various skin disorders.
June 2019 in “Pediatric Dermatology” Alopecia in patients with epidermolysis bullosa varies in severity and is often caused by skin blistering or trauma.
29 citations,
January 2020 in “Frontiers in endocrinology” Fibrodysplasia ossificans progressiva is a rare genetic disorder that causes extra bone growth and symptoms of premature aging.
489 citations,
November 2021 in “Signal Transduction and Targeted Therapy” The JAK/STAT pathway is important in cell processes and disease, and JAK inhibitors are promising for treating related conditions.
694 citations,
April 2000 in “Nature genetics” Msx2 deficiency in mice leads to bone growth and organ development problems.
1 citations,
September 2021 in “Frontiers in genetics” A genetic mutation in the DCAF17 gene caused Woodhouse-Sakati syndrome in a Chinese patient from a related family.
5 citations,
September 2015 in “BMC Medical Genetics” The EDAR gene mutation leads to thinner and more deformed hair shafts.
19 citations,
January 2007 in “Dermatology” Unwanted facial hair significantly impacts over 40% of women's psychological and social well-being, and various treatment options are available.
1 citations,
January 2019 in “Springer eBooks” Hidradenitis Suppurativa is a chronic skin condition best treated early with surgery for better outcomes and less recurrence.
3 citations,
June 2013 in “Genes & development” CaV1.2 helps activate hair follicle stem cells without calcium flux.
September 2023 in “Cureus” Nails can reveal important health information about skin and body conditions.
April 2017 in “Journal of Investigative Dermatology” The BMP/Smads pathway and Id2 gene control hair follicle stem cells, affecting their rest and growth phases.
April 2017 in “Journal of Investigative Dermatology” 62 citations,
January 2000 in “Developmental dynamics” Notch-related genes play a key role in the development and cycling of hair follicles.
28 citations,
April 1996 in “Cell biology international” Changes in keratin affect skin health and can lead to skin disorders like blistering diseases and psoriasis.
26 citations,
September 2018 in “Journal of Molecular Cell Biology” Endoglin is crucial for proper hair growth cycles and stem cell activation in mice.
6 citations,
November 2021 in “Frontiers in immunology” STAT3 signaling is important for healthy skin and hair follicles, and its disruption can lead to skin conditions like atopic dermatitis.
3 citations,
April 2012 in “Bioinformation” Two specific SNPs in the TRPS1 gene cause excessive hair growth by altering the protein's structure.
April 2020 in “Journal of the Endocrine Society” A patient with myotonic dystrophy had several autoimmune disorders and thyroid cancer, suggesting a possible link between these conditions.
86 citations,
May 2008 in “Cytokine & growth factor reviews” TNF family proteins are crucial for the development of skin features like hair, teeth, and mammary glands.
75 citations,
October 2010 in “Mammalian genome” Sphynx cats are hairless and Devon Rex cats have curly hair due to specific genetic mutations.