6 citations
,
January 2011 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” An 11-year-old Greek girl was diagnosed with a rare genetic disorder, highlighting the importance of genetic testing and family history.
101 citations
,
August 2001 in “The Journal of Cell Biology” A new keratin 6 type in mice explains why some mice without certain keratin genes still have normal hair and nails.
1 citations
,
November 2017 in “Expert opinion on orphan drugs” Scientists now better understand the genetics of hypohidrotic ectodermal dysplasia, leading to more accurate diagnoses and potential new treatments.
November 2024 in “JAAD Case Reports” A 21-month-old boy has a rare genetic disorder causing sparse hair due to an LSS gene mutation.
2 citations
,
October 2023 in “PubMed” Scientists created a cell model to study and find treatments for a skin disease called RDEB.
10 citations
,
July 2021 in “Archiv für Pathologische Anatomie und Physiologie und für Klinische Medicin” LRIG1 is linked to better survival in Merkel cell carcinoma.
February 2023 in “Benha Journal of Applied Sciences” R-Spondin-1 is important for skin health and could help diagnose and treat various skin conditions.
April 2016 in “The journal of investigative dermatology/Journal of investigative dermatology” MPZL3 is crucial for seborrheic dermatitis development.
March 2024 in “Poster presentations” A woman with lupus and Kikuchi-Fujimoto disease improved with treatment.
January 2004 in “uO Research (University of Ottawa)” Claudin 6 is crucial for normal skin and hair development.
39 citations
,
April 2018 in “Hormones” No consistent link between genotype and phenotype in 5-α-Reductase type 2 deficiency.
4 citations
,
October 2021 in “Journal of Clinical Medicine” Carriers of a specific gene mutation have subtle skin changes without visible symptoms.
109 citations
,
June 2011 in “Molecular and Cellular Endocrinology” Vitamin D receptor mutations can cause alopecia by affecting hair growth genes.
78 citations
,
May 2012 in “Journal of Investigative Dermatology” A specific gene mutation causes woolly hair and hair loss.
June 2023 in “British Journal of Dermatology” The protein called small nuclear ribonucleoprotein polypeptide E is identified as a cause of a type of hair loss without other symptoms.
119 citations
,
October 2011 in “Journal of Veterinary Internal Medicine” Rhodococcus equi causes severe pneumonia in young foals, and effective vaccines are needed due to foals' weak immune responses.
May 2015 in “Journal of Dermatological Science” Researchers found a new area on chromosome 2 linked to a genetic hair loss condition.
109 citations
,
October 2007 in “American Journal of Human Genetics” Giving a special protein to dogs with a certain genetic disease improved their symptoms but didn't help with hair growth.
7 citations
,
February 2012 in “Journal of cutaneous pathology” The document describes previously unreported unique skin changes in a rare genetic disorder called Hereditary mucoepithelial dysplasia.
February 2016 in “Journal of Allergy and Clinical Immunology” Consider DRIF and perform skin biopsies for persistent papular rashes.
December 2021 in “OPAL (Open@LaTrobe) (La Trobe University)” Disrupting the Hars2 gene in mice causes hearing loss due to mitochondrial problems and hair cell damage.
43 citations
,
January 2016 in “Development” LHX2 is essential for hair follicle development, controlled by NF-κB and TGFβ2 signaling.
November 2025 in “Journal of Investigative Dermatology” TEDAR is crucial for skin cell differentiation and barrier formation.
October 2025 in “Clinical and Experimental Pediatrics” A novel CLDN1 mutation in a 2-month-old with NISCH showed improvement with symptom management.
23 citations
,
December 2013 in “British Journal of Dermatology” A new gene mutation linked to a skin condition was found in a Spanish family.
10 citations
,
March 2015 in “Journal of dermatology” The boy's severe skin disorder is caused by two new mutations in his TGM1 gene.
37 citations
,
April 2018 in “Journal of Allergy and Clinical Immunology” A mutation in the IKZF1 gene causes immune system overactivity, linked to autoimmune diseases like lupus.
6 citations
,
August 2012 in “The Journal of Pediatrics” A 12-year-old girl was diagnosed with monilethrix, a genetic condition causing fragile, beaded hair that breaks easily, with no effective treatment available.
59 citations
,
May 2017 in “Scientific reports” ZDHHC13 is important for normal liver function and metabolism, affecting mitochondrial activity.
36 citations
,
July 1996 in “The journal of investigative dermatology/Journal of investigative dermatology” Mice with the 'lanceolate hair' mutation have abnormal hair and skin similar to human Netherton's syndrome.