3 citations
,
January 2019 in “Jikken doubutsu ihou/Jikken doubutsu/Experimental animals/Jikken Dobutsu” Pigs without the Hairless gene showed skin and thymus changes, useful for studying human hair disorders.
2 citations
,
May 2023 in “Journal of Advanced Research” Two mutations in KRT74 and EDAR genes cause sheep to have finer wool.
2 citations
,
April 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” MendelVar is a tool that helps identify important genes by combining GWAS data with Mendelian disease information.
2 citations
,
January 2002 in “Hormone Research in Paediatrics” Molecular diagnostics help identify genetic defects causing endocrine diseases, improving diagnosis and treatment options.
1 citations
,
November 2017 The document concludes that while some organisms can regenerate body parts, mammals generally cannot, and cancer progression is complex, involving mutations rather than a strict stem cell hierarchy.
November 2025 in “Archiv für Pathologische Anatomie und Physiologie und für Klinische Medicin” Sporadic trichoblastic neoplasms generally don't recur or spread, with one case showing a specific genetic fusion.
June 2025 in “British Journal of Dermatology” Ruxolitinib helped a woman with a genetic mutation regrow her hair and improved her health.
January 2025 in “Clinical and Medical Engineering Live” Implementing safety strategies is crucial to prevent radiation-related health issues.
A rare skin condition in a 17-year-old was diagnosed late, stressing the need for careful evaluation and genetic testing.
May 2020 in “Research Square (Research Square)” Trichilemmal carcinoma shares genetic traits with other skin cancers, suggesting similar treatment options.
April 2020 in “Research Square (Research Square)” Trichilemmal carcinoma shares genetic traits with other skin cancers, suggesting similar treatment options.
December 2016 in “British Journal of Dermatology” The meeting highlighted the importance of genetic testing and multidisciplinary approaches in pediatric dermatology.
119 citations
,
November 2016 in “American journal of human genetics” Mutations in three genes cause Uncombable Hair Syndrome, leading to frizzy hair that can't be combed flat.
103 citations
,
March 2011 in “PLoS Biology” Birds can lose neck feathers due to a genetic change that increases a gene's activity, helping them adapt to heat.
99 citations
,
March 2013 in “Journal of Investigative Dermatology” Mutations in the ABCB6 gene cause Dyschromatosis Universalis Hereditaria.
6 citations
,
August 2024 in “BMC Ophthalmology” New genetic variants linked to albinism were found in Pakistani families.
157 citations
,
May 2021 in “Endocrine Reviews” Early diagnosis and individualized treatment improve outcomes for Congenital Adrenal Hyperplasia.
103 citations
,
October 2003 in “Birth Defects Research” Both genes and environmental factors like chemicals may contribute to the increase in hypospadias, but the exact causes are still unclear.
61 citations
,
January 2017 in “Human Reproduction Open” The review recommends hormone replacement therapy for women with premature ovarian insufficiency to manage symptoms and protect health, with specific approaches for different groups.
34 citations
,
July 2020 in “American journal of human genetics” Changes in the SREBF1 gene cause a rare genetic skin and hair disorder.
27 citations
,
November 2007 in “Genomics” Mutations in specific keratin genes cause improper hair structure in mice due to faulty keratin protein assembly.
25 citations
,
April 2019 in “Journal of The American Academy of Dermatology” Using 2% tofacitinib cream with narrowband ultraviolet B improved facial vitiligo by 70% in patients who didn't respond to previous treatments, with no side effects reported.
23 citations
,
February 2020 in “PLOS genetics” Mice with LSS deficiency showed hair loss and cataracts, similar to humans, and can help in understanding and treating this condition.
20 citations
,
October 2008 in “European journal of endocrinology” Lower lipin 1β in belly fat is linked to insulin resistance in people with polycystic ovary syndrome.
15 citations
,
August 2022 in “The Application of Clinical Genetics” ABCD1 gene mutations cause adrenomyeloneuropathy, leading to symptoms like limb weakness and spasticity, with management focusing on rehabilitation and spasticity treatment.
15 citations
,
January 2010 in “Reproduction, Fertility and Development” A certain gene variant may increase the risk of polycystic ovary syndrome in Chinese women.
11 citations
,
January 2016 in “The Journal of Sexual Medicine” Young women with nonclassic congenital adrenal hyperplasia may experience worse sexual function and mild depression compared to healthy women.
9 citations
,
February 2019 in “Journal of Clinical Research in Pediatric Endocrinology” Children with classic congenital adrenal hyperplasia have thicker heart fat and are at higher risk for heart problems and early atherosclerosis.
5 citations
,
April 2021 in “Journal of Endocrinological Investigation” Higher DHT levels are linked to fewer hypogonadism symptoms in men with normal testosterone levels.
5 citations
,
June 2020 in “Journal of Endocrinological Investigation” Women with congenital adrenal hyperplasia (CAH) have more sexual function issues than those with polycystic ovary syndrome (PCOS), but physical activity can improve sexual functioning in all women.