December 2025 in “Al-Iraqia Medical College Journal” Virus infection risk is linked to heat tolerance and size, but decreases with high humidity and mutation rate.
December 2023 in “JCEM case reports” A new gene variant causes glucocorticoid resistance in a mother and son.
5 citations
,
May 2017 in “Journal of dermatological science” The combined treatment effectively managed severe skin issues in Olmsted syndrome.
29 citations
,
February 2022 in “Frontiers in Cell and Developmental Biology” Improving CRISPR/Cas systems can make gene editing more efficient and precise.
47 citations
,
July 1998 in “Journal of Investigative Dermatology” A new mutation, Glu402Lys, in hair keratin is linked to variable symptoms of monilethrix.
18 citations
,
January 2018 in “BMC dermatology” A new mutation in the PLEC gene causes a rare condition with skin blistering, muscle weakness, and hair loss.
7 citations
,
August 2019 in “JAAD Case Reports” Hidradenitis suppurativa may be more severe in people with Mediterranean fever gene mutations.
July 2025 in “Frontiers in Medicine” Mutations in the LIPH gene cause woolly hair in a child.
November 2022 in “Frontiers in pediatrics” A girl with skin rashes and low zinc levels improved with zinc supplements and had new gene mutations linked to her condition.
23 citations
,
January 2017 in “BMC Medical Genetics” A new CDH3 gene mutation was found in a Spanish patient with sparse hair and eye issues.
September 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” A new mutation in the STING protein causes a disease with lupus-like symptoms and responds well to a specific inhibitor treatment.
29 citations
,
August 1999 in “Journal of Investigative Dermatology” New mutations in hair keratin genes cause the rare hair disorder monilethrix.
20 citations
,
July 2013 in “European Journal of Oral Sciences” A new PAX9 gene mutation causes missing teeth and hair problems, but not skin or nail issues.
22 citations
,
February 2012 in “Journal of Investigative Dermatology” A specific gene mutation causes severe skin and nail issues and hair loss.
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.
8 citations
,
December 2019 in “Molecular genetics and metabolism reports” Some children in Malaysia with symptoms have either profound or partial biotinidase deficiency, and early testing and treatment are important.
5 citations
,
April 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” A new therapy for a skin blistering condition has not been developed yet.
3 citations
,
July 2024 in “Frontiers in Medicine” Mutations in the KLHL24 gene cause a skin disorder in some Russian families.
2 citations
,
December 2020 in “Endocrinology, diabetes & metabolism case reports” A man with hypoparathyroidism had other health issues that led to a diagnosis of a rare autoimmune disorder, APS-1.
20 citations
,
May 2016 in “Journal of Cosmetic Dermatology” Low vitamin D receptor levels found in hair loss patients; topical vitamin D treatment suggested.
2 citations
,
May 2018 in “Expert opinion on orphan drugs” Newborn screening and gene therapy are expected to improve outcomes for Omenn syndrome patients.
November 2023 in “Scientific Reports” A gene mutation in Lama3 is linked to a common type of hair loss.
January 2000 in “BioScience” The document concludes that understanding hair biology is key to treating hair disorders, with gene therapy showing potential as a future treatment.
199 citations
,
April 2010 in “Nature” A gene called APCDD1, which controls hair growth, is found to be faulty in a type of hair loss called hereditary hypotrichosis simplex.
71 citations
,
February 2012 in “The American Journal of Human Genetics” A specific ATR gene mutation is linked to a hereditary oropharyngeal cancer syndrome.
66 citations
,
December 1999 in “Journal of Investigative Dermatology” New mutations in the hairless gene may cause hair loss and affect bone development.
62 citations
,
October 1999 in “Journal of Investigative Dermatology” New mutations in hair keratin genes can change hair structure and cause monilethrix, with nail issues more common in certain gene mutations.
50 citations
,
February 2016 in “Journal of Investigative Dermatology” A mutation in the KRT25 gene causes a rare hair disorder with thin, woolly hair.
44 citations
,
January 2017 in “Journal of Investigative Dermatology” Mutations in the KLHL24 gene cause skin blistering in epidermolysis bullosa simplex.
34 citations
,
November 1998 in “Journal of Investigative Dermatology” A common mutation in the hHb6 gene is linked to monilethrix, but other factors may also play a role.