10 citations,
November 2018 in “The Italian Journal of Pediatrics/Italian journal of pediatrics” Early diagnosis of Trichorhinophalangeal syndrome type 1 is crucial for treatment and was achieved through clinical examination and family history.
January 2024 in “Biomedicines” The review shows that skin symptoms like chronic fungal infections, hair loss, and skin depigmentation are key for early detection and management of APECED.
1 citations,
September 2023 in “Acta dermato-venereologica” Certain genetic variants are linked to frontal fibrosing alopecia in Spanish patients.
27 citations,
April 2011 in “International journal of legal medicine” In situ DNA labeling in hair can help predict forensic DNA analysis success.
August 2023 in “Research Square (Research Square)” Personalized thiopurine dosing based on NUDT15 genotyping can improve long-term outcomes for ulcerative colitis and Crohn's disease patients.
40 citations,
January 2017 in “Intestinal Research” Genotyping for NUDT15 p.Arg139Cys can help predict thiopurine side effects in Japanese IBD patients.
157 citations,
May 2021 in “Endocrine Reviews” Early diagnosis and individualized treatment improve outcomes for Congenital Adrenal Hyperplasia.
73 citations,
June 2006 in “Animal genetics” The FGF5 gene determines hair length in dogs.
12 citations,
December 2021 in “Aging” A new painless method to collect hair follicles helps study DNA damage and aging.
8 citations,
December 2020 in “Scientific reports” Selective breeding caused the unique curly hair in Mangalitza pigs.
5 citations,
September 2013 in “The Journal of Dermatology” Researchers found a new mutation in the HR gene causing hair loss and skin bumps in a Pakistani family.
1 citations,
March 2004 in “Journal of the American Academy of Dermatology” Certain genes are linked to the risk of developing Alopecia Areata.
3 citations,
September 2016 in “British Journal of Dermatology” Warts in HIV-positive men can have serious abnormal cell growth, needing careful analysis and treatment to prevent cancer.
1 citations,
January 1986 in “Journal of Steroid Biochemistry” Women with excessive hair growth or polycystic ovary disease may more often carry a gene variant for 21 hydroxylase deficiency.
May 2014 in “Journal of The American Academy of Dermatology” The project aimed to understand how genetic test results affect patients' actions and feelings in dermatology.
51 citations,
January 2007 in “Animal Genetics” The gene for slick hair in Senepol cattle is located on chromosome 20 and may involve the SRD5A2 gene.
13 citations,
September 2007 in “International Journal of Dermatology” Vitamin D receptor gene variations are not linked to alopecia areata.
1 citations,
May 2023 in “Frontiers in Pharmacology” Genetic screening for NUDT15 polymorphisms is crucial for patients taking azathioprine, especially in Asians.
75 citations,
October 2010 in “Mammalian genome” Sphynx cats are hairless and Devon Rex cats have curly hair due to specific genetic mutations.
15 citations,
January 2013 in “European Journal of Pediatrics” Patients with Shwachman-Diamond syndrome often get misdiagnosed due to a wide range of symptoms, including immune system problems and bone abnormalities.
13 citations,
July 2012 in “Pigment Cell & Melanoma Research” A mutation in the Adam10 gene causes freckle-like spots on Hairless mice.
7 citations,
February 2019 in “Veterinary medicine and science” An American Bully with a genetic skin condition improved significantly with specific topical treatments.
2 citations,
December 2019 in “Al-ʻulūm al-ṣaydalāniyyaẗ” The CTLA-4 gene change studied does not affect Polycystic Ovarian Syndrome in the women tested.
2 citations,
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.
1 citations,
October 1990 in “The Lancet” Using minoxidil for hair growth may cause skin lesions in some people, and taking breaks from nitrate patches for angina might worsen symptoms.
August 2007 in “Journal of Investigative Dermatology” The meeting discussed vitamin D3's role in fighting tuberculosis, potential treatments for skin conditions like psoriasis, and hair follicle regeneration as a possible solution for hair loss.
7 citations,
June 2020 in “Journal of The European Academy of Dermatology and Venereology” Genetic variants affect minoxidil hair loss treatment success.
38 citations,
March 2010 in “Medicine” Most patients with Porphyria Cutanea Tarda had skin blisters and were often affected by hepatitis C and alcohol abuse, with differences between familial and sporadic cases.
30 citations,
June 2016 in “Journal of Human Genetics” Researchers found genetic mutations causing hypohidrotic ectodermal dysplasia in 88% of studied patients and identified new mutations and genetic variations affecting the disease.
28 citations,
August 2014 in “Journal of Assisted Reproduction and Genetics” The VEGF +405G allele may increase the risk of PCOS in South Indian women.