109 citations
,
October 2007 in “American Journal of Human Genetics” Giving a special protein to dogs with a certain genetic disease improved their symptoms but didn't help with hair growth.
1 citations
,
January 2023 in “Journal of Obstetrics and Gynaecology” High DHEA and short cervical length in women with PCOS and recurrent miscarriages may harm pregnancy outcomes.
3 citations
,
January 2018 in “Frontiers in bioscience” Daily subcutaneous testosterone effectively restores testosterone levels in men.
January 2024 in “Wiadomości Lekarskie” DEC cells show promise as a safe and effective treatment for Duchenne muscular dystrophy.
17 citations
,
August 2012 in “Journal of Medical Genetics” A new mutation in the XEDAR gene might cause a rare skin condition called hypohidrotic ectodermal dysplasia.
52 citations
,
November 2003 in “Journal of Investigative Dermatology” Different harmful mutations in the CDH3 gene cause HJMD, but symptoms vary among individuals.
1 citations
,
January 2016 in “Australasian Journal of Dermatology” A rare genetic mutation caused unusual skin symptoms in a man with Blau syndrome.
23 citations
,
March 1958 in “JNCI Journal of the National Cancer Institute” Male-to-female skin grafts in mice are rejected due to sex-linked antigens.
15 citations
,
November 2015 in “International Journal of Dermatology” Keratin 14 may be an autoantigen in autoimmune skin diseases.
Trichodysplasia spinulosa can occur after a heart transplant due to immunosuppressive drugs.
October 2021 in “The journal of investigative dermatology/Journal of investigative dermatology” Desmoglein 3 is important for keeping hair follicle stem cells inactive and maintaining their special properties.
2 citations
,
January 2024 in “Revista Paulista de Pediatria” A rare genetic mutation caused severe symptoms in a 6-year-old girl with mandibuloacral dysplasia type A.
130 citations
,
January 2000 in “Nature biotechnology”
1 citations
,
September 2010 in “The journal of investigative dermatology/Journal of investigative dermatology” The meeting highlighted major advances in skin research, including new findings on skin microbes, genetic links to skin diseases, and improved treatments for various conditions.
A genetic mutation in the CDH3 gene causes hair loss and vision problems in a young Saudi girl.
October 2023 in “Psychiatry research. Case reports” A new HRAS gene variant may cause a range of symptoms including intellectual disability and psychiatric issues.
November 2022 in “Frontiers in pediatrics” A girl with skin rashes and low zinc levels improved with zinc supplements and had new gene mutations linked to her condition.
June 2020 in “Comparative medicine” NSG mice had the most mites, and genetic factors affect immune response and susceptibility.
157 citations
,
September 2012 in “Journal of the American Academy of Dermatology” Young patients are more likely to develop autoimmune diseases, while elderly patients are more prone to organ failure after DRESS.
June 2025 in “bioRxiv (Cold Spring Harbor Laboratory)” In alopecia areata, certain immune cells increase and express a protein linked to immune activation.
14 citations
,
March 2006 in “TSpace”
68 citations
,
December 2011 in “Journal of Investigative Dermatology” Sox2-positive dermal papilla cells have unique characteristics and contribute more to skin and hair follicle formation than Sox2-negative cells.
22 citations
,
March 2017 in “Transplant Infectious Disease” Leflunomide successfully treated a rare skin condition in a liver transplant patient.
3 citations
,
August 2021 in “Research Square (Research Square)” The most common sign of aging at the gene level is more Ectodysplasin A2 Receptor (EDA2R) being made.
1 citations
,
July 2015 in “Microscopy Research and Technique” Friedreich's ataxia causes thin, weak hair with surface damage and cavities.
5 citations
,
December 2014 in “Molecular cytogenetics” A specific genetic change is linked to mental disorders, intellectual disability, and possibly autoimmune disease in a family.
2 citations
,
January 2022 in “The Application of Clinical Genetics” A young Russian girl with Meier-Gorlin syndrome has two new mutations in the CDC6 gene.
53 citations
,
May 1996 in “The Journal of Clinical Endocrinology & Metabolism” Different mutations in the 5 alpha-reductase-2 gene were found in affected individuals in the Dominican Republic, suggesting no common ancestry.
34 citations
,
January 2004 in “PubMed” DHT deficiency in rats reduces sperm content and affects testis structure over time.
December 2009 in “Cancer Research” Over-expression of Sp2 can lead to cancer by preventing proper stem cell differentiation.