July 2024 in “Russian Journal of Child Neurology” Selumetinib effectively reduces tumor size in many children with neurofibromatosis type 1, but can cause skin and hair 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.
December 2018 in “Indian Journal of Paediatric Dermatology” Early-onset hair loss may be linked to higher risk of metabolic syndrome.
130 citations
,
April 2001 in “Journal of Investigative Dermatology” The keratin tail is crucial for skin structure and function.
42 citations
,
September 2003 in “Journal of Investigative Dermatology” A missing mK6irs1 gene causes hair loss in mice.
5 citations
,
January 2015 in “Case reports in medicine” A baby was diagnosed with IFAP syndrome due to a new genetic mutation, showing severe skin and developmental issues.
January 2023 in “Indian dermatology online journal” A child with ectodermal dysplasia-syndactyly syndrome has a new mutation in the NECTIN4 gene.
April 2024 in “Human genomics” Identified genes linked to male-pattern baldness may help develop new treatments.
35 citations
,
August 2009 in “Differentiation” Desmoglein 4 is controlled by specific proteins that affect hair growth.
11 citations
,
July 2021 in “Genetics selection evolution” Researchers found genes and genetic variants linked to sheep wool and skin wrinkles.
2 citations
,
May 2024 in “Australasian Journal of Dermatology” Early diagnosis, innovative treatments, and considering systemic conditions are crucial in dermatological care.
1 citations
,
May 2025 in “BMC Genomics” lncRNAs may help control cashmere goat hair growth by responding to light changes.
Nanozymes can restore hair growth by fixing peroxisomal function.
March 2025 in “Human Genetics and Genomics Advances” Genetic predictions of baldness in Europeans don't apply well to African men.
January 2024 in “Biomarker Insights” Certain genetic variants may increase the risk of developing PCOS.
23 citations
,
July 2022 in “Nature Cell Biology” Targeting THY1 can improve skin repair and healing.
22 citations
,
April 2012 in “The American journal of pathology” Loss of Msx2 function causes eye development issues similar to Peters anomaly.
13 citations
,
June 2024 in “Frontiers in Genetics” About 50% of 46, XY DSD cases lack a genetic diagnosis, but advanced sequencing methods improve detection.
5 citations
,
November 2021 in “The journal of investigative dermatology/Journal of investigative dermatology” Wnt/β-catenin signaling is important for keeping skin cell attachment structures stable.
1 citations
,
May 2023 in “European Journal of Human Genetics” Rare ULBP3 gene changes may raise the risk of Alopecia areata, a certain FAS gene deletion could cause a dysfunctional protein in an immune disorder, and having one copy of a specific genetic deletion is okay, but two copies cause sickle cell disease.
January 2024 in “Frontiers research topics” Comprehensive genetic testing and international collaboration are crucial for better understanding and managing Ehlers-Danlos syndromes.
July 2025 in “Frontiers in Medicine” Mutations in the LIPH gene cause woolly hair in a child.
39 citations
,
November 2021 in “Clinical Endocrinology” Testosterone replacement is recommended for men with low testosterone levels and symptoms of hypogonadism.
5 citations
,
June 2023 in “BMC genomics” A specific gene mutation causes long hair in Angora rabbits.
4 citations
,
October 2023 in “African Journal of Urology” Older parental age, rural living, and specific genetic mutations increase hypospadias risk in children.
February 2025 in “BMC Genomics” Melatonin improves cashmere quality and yield in goats by enhancing hair follicle development.
138 citations
,
August 2020 in “Frontiers in Endocrinology” PCOS affects health and quality of life, with effective treatments available and a need for more research on alternative therapies.
35 citations
,
March 2010 in “BMC veterinary research” Goats with BSE or scrapie show varying symptoms, and using only clinical signs may not detect all scrapie cases.
22 citations
,
June 2017 in “Stem cell reports” PTEN helps control the number and health of skin stem cells by working with the protein BMAL1.
19 citations
,
July 2020 in “EBioMedicine” A gene variant increases the risk of a type of hair loss by affecting hair protein production.