6 citations,
June 2021 in “The journal of investigative dermatology/Journal of investigative dermatology” A mutation in the SREBF1 gene causes both hereditary mucoepithelial dysplasia and IFAP syndrome, which are related conditions.
research Acne
2 citations,
May 2011 in “Harper's Textbook of Pediatric Dermatology” Acne is a common skin condition linked to diet, hormones, and genetics, and early treatment can prevent scarring.
September 2022 in “Research Square (Research Square)” 5% topical minoxidil improves hair density and quality in monilethrix patients.
3 citations,
June 2017 in “Reproductive biomedicine online” A certain mutation in the fetal alpha 5-reductase gene is linked to a higher risk of late miscarriage.
2 citations,
September 2020 in “Schweizer Archiv für Tierheilkunde” Swiss Holstein cattle with curly, short hair carry genes from the Simmental breed.
September 2023 in “International journal of science and healthcare research” Genetic testing is crucial for diagnosing congenital atrichia, a rare condition causing irreversible hair loss.
January 2023 in “Revista Paulista de Pediatria” A Brazilian male with IFAP syndrome has a unique genetic variant causing his condition.
146 citations,
May 2002 in “The American journal of pathology” Cathepsin L is essential for normal hair growth and development.
3 citations,
May 2018 in “European Journal of Dermatology” Photodynamic therapy may not work for erythroplasia of Queyrat and could lead to invasive squamous cell carcinoma.
August 2022 in “Journal of Comprehensive Pediatrics” A girl with a rare genetic disorder had a unique bone condition, highlighting the need for careful diagnosis and suggesting the disorder might be more common than thought.
December 2023 in “American journal of medical genetics. Part A” A new syndrome was linked to two new genetic changes in the MBTPS1 gene in a 14-year-old girl.
52 citations,
November 2003 in “Journal of Investigative Dermatology” Different harmful mutations in the CDH3 gene cause HJMD, but symptoms vary among individuals.
2 citations,
January 2017 in “Folia biologica” The KRTAP7-1 gene is very similar across different cattle and yak breeds and likely plays a role in hair strength and shape.
40 citations,
January 2017 in “Intestinal Research” Genotyping for NUDT15 p.Arg139Cys can help predict thiopurine side effects in Japanese IBD patients.
10 citations,
May 2020 in “Journal of proteome research” Explosions don't stop hair proteins from being used to identify people.
9 citations,
May 2019 in “Medicine” The C-allele and CC-genotype in the PTPN22 gene lower the risk of alopecia areata.
27 citations,
November 2007 in “Genomics” Mutations in specific keratin genes cause improper hair structure in mice due to faulty keratin protein assembly.
55 citations,
August 2008 in “Reviews in endocrine and metabolic disorders” Nonclassic adrenal hyperplasia is a genetic condition that can cause early puberty and fertility problems, treated with specific steroids.
100 citations,
May 2011 in “Journal of Pediatric and Adolescent Gynecology” The document concludes that proper diagnosis and a multidisciplinary approach are crucial for managing Congenital Adrenal Hyperplasia effectively.
88 citations,
April 2017 in “Journal of Pediatric and Adolescent Gynecology” The document concludes that early diagnosis and treatment of Congenital Adrenal Hyperplasia are crucial for preventing serious health issues and improving patient outcomes.
16 citations,
September 2008 in “Dermatologic Therapy” CAH is a genetic disorder affecting cortisol production and causing hormonal imbalances, with treatment and diagnosis varying by form and symptoms.
7 citations,
April 2012 in “Biomolecular concepts” Keratin is crucial for keeping skin cells healthy and its changes can lead to diseases and affect cell behavior.
59 citations,
June 2008 in “Journal of The American Academy of Dermatology” The article explains the genetic causes and symptoms of various hair disorders and highlights the need for more research to find treatments.
30 citations,
June 2012 in “Current Opinion in Endocrinology, Diabetes and Obesity” Nonclassic congenital adrenal hyperplasia is a genetic disorder causing hormone imbalances, affecting fertility and requiring personalized treatment.
49 citations,
January 2010 in “International Journal of Pediatric Endocrinology” The document concludes that Nonclassic Congenital Adrenal Hyperplasia requires personalized treatment plans to manage symptoms and fertility, with glucocorticoids being a common therapy.
The chapter explains that there are many genetic skin disorders affecting skin cell formation, including both common and rare types.
89 citations,
November 2017 in “Journal of Cellular Physiology” The Wnt/β-catenin pathway is important for tissue development and has potential in regenerative medicine, but requires more research for therapeutic use.
8 citations,
October 2019 in “Immunological investigations” The AIRE gene variant rs2075876 is linked to a higher risk of alopecia areata in males.
6 citations,
January 2013 Hyperadrenocorticism in ferrets is linked to neutering and indoor housing, and is best treated with surgery and a deslorelin implant.
3 citations,
September 2019 in “PLOS ONE” Genetic variations affect dutasteride treatment response for male pattern hair loss.