53 citations
,
March 2006 in “Biopolymers” TTD hair is brittle due to fewer sulfur amino acids and unstable disulfide bonds.
November 2022 in “Journal of Investigative Dermatology” NCSTN gene mutation causes abnormal skin cell differentiation and more inflammation, contributing to Hidradenitis Suppurativa.
7 citations
,
March 2004 in “Journal of the American Academy of Dermatology” Tiger tail banding and hair abnormalities are reliable indicators for diagnosing trichothiodystrophy.
86 citations
,
November 2015 in “Journal of Gastroenterology” The NUDT15 R139C variant causes thiopurine-induced leukocytopenia through a different mechanism than previously thought in Japanese patients with inflammatory bowel disease.
5 citations
,
May 2022 in “Diagnostics” Certain genetic markers can indicate higher or lower risk for systemic lupus erythematosus.
1 citations
,
May 2021 in “Annals of the rheumatic diseases” Tofacitinib is a promising treatment for children with rheumatic diseases.
CCC1 is essential for pH balance and normal cell function in plants.
Introducing the OTC gene improved symptoms in mice with OTC deficiency.
71 citations
,
February 2012 in “The American Journal of Human Genetics” A specific ATR gene mutation is linked to a hereditary oropharyngeal cancer syndrome.
2 citations
,
November 1999 in “Hair transplant forum international” The document's conclusion cannot be provided because the document is not accessible.
Tofacitinib significantly improved symptoms in a patient with overlapping autoimmune disorders.
1 citations
,
December 2016 in “Revista română de medicină de laborator” The NIPAL4 mutation c.527C>A is common in Romanian patients with autosomal recessive congenital ichthyosis.
232 citations
,
July 1995 in “Nature Genetics”
76 citations
,
June 2018 in “EMBO Reports” YAP and TAZ proteins are necessary for the development of two types of skin cancer.
August 2016 in “Journal of Investigative Dermatology” Researchers found a new genetic mutation linked to a hair condition in a Japanese boy.
8 citations
,
December 2017 in “Small Ruminant Research” Variation in the TCHH gene affects wool curliness in sheep.
January 2022 in “Research Square (Research Square)” High TSPEAR levels in colorectal cancer predict worse outcomes.
188 citations
,
June 1998 in “Molecular cell” Researchers created a mouse with the same mutation as humans with trichothiodystrophy, showing similar symptoms and confirming the condition is due to defects in DNA repair and gene activity.
May 2022 in “Experimental dermatology” Trichothiodystrophy hair is structurally abnormal with protein and organization issues.
7 citations
,
November 1997 in “Pediatric Dermatology” Trichothiodystrophy can be linked to urologic issues and high calcium in urine.
January 2025 in “Journal of Crohn s and Colitis” Tofacitinib is effective and safe for elderly patients with ulcerative colitis.
2 citations
,
May 2017 in “Journal of the American Academy of Dermatology” Tofacitinib helped a 19-year-old regrow hair after other treatments failed.
24 citations
,
December 2013 in “Archives of Dermatological Research”
February 2016 in “The journal of allergy and clinical immunology/Journal of allergy and clinical immunology/The journal of allergy and clinical immunology” A new TP63 mutation was found in a baby with EEC syndrome, showing the need for TREC testing to check for immune issues.
April 2016 in “Journal of Investigative Dermatology” Mutations in the TSPEAR gene cause a new form of ectodermal dysplasia affecting hair and tooth development.
July 2024 in “Journal of Investigative Dermatology” 35 citations
,
September 2011 in “The Journal of Dermatology” Trichoscopy helps accurately diagnose temporal triangular alopecia.
14 citations
,
December 2010 in “Journal of human genetics” A Japanese patient with IFAP syndrome had a severe MBTPS2 gene mutation but showed milder symptoms than previously observed cases.
February 2022 in “Research Square (Research Square)” High TSPEAR levels in colorectal cancer predict worse outcomes.
21 citations
,
March 2015 in “Neurological Sciences” A new genetic mutation linked to CARASIL syndrome and small artery disease was found in a Chinese family.