October 2023 in “Psychiatry research. Case reports” A new HRAS gene variant may cause a range of symptoms including intellectual disability and psychiatric issues.
March 2023 in “JAAD case reports” A new genetic change in the keratin 10 gene caused a skin condition called ichthyosis hystrix in a father and his daughter.
January 2018 in “Genetic engineering & biotechnology news” A genetic mutation linked to longer life and less disease was found in the Amish, and a drug is being developed to replicate these benefits.
January 2008 in “The Year book of endocrinology” Gene variant linked to prostate cancer, hormone levels, and hair loss.
26 citations,
September 2020 in “Journal of the European Academy of Dermatology and Venereology” A certain genetic variant in the androgen receptor may predict the severity of COVID-19 in men.
16 citations,
September 2015 in “International Journal of Molecular Sciences” A specific gene variant causes severe skin issues and increases infection risk, requiring careful medical monitoring.
10 citations,
October 2014 in “Journal of Ovarian Research” The IRS-2 Asp/Asp genotype may increase the risk of PCOS in Chinese women, especially if they are not obese.
9 citations,
January 2013 in “Acta dermato-venereologica” The conclusion is that "trichoknesis" should be recognized as a separate condition from trichodynia, characterized by itching instead of pain.
8 citations,
August 2019 in “JAAD case reports” Chronic cutaneous lupus erythematosus causes scarring, hair loss, and skin discoloration, especially on sun-exposed areas.
5 citations,
March 2013 in “Journal of Cutaneous Pathology” Granulomatous alopecia may be a distinct subtype of alopecia areata.
4 citations,
February 2015 in “Journal of Clinical Laboratory Analysis” A genetic variant in the androgen receptor gene increases heart disease risk in women but not in men.
3 citations,
April 2022 in “Biomolecules” Higher miR-34a levels and the A variant of the MIR-34A gene are linked to increased risk and severity of alopecia areata.
2 citations,
August 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” A specific mutation in the K25 gene causes a rare genetic disorder with curly hair at birth and later hair loss, along with dental issues.
2 citations,
March 2007 in “The journal of investigative dermatology/Journal of investigative dermatology” A new type of hereditary hair loss in a Chinese family is linked to chromosome 2p25.1–2p23.2.
1 citations,
May 2023 in “Frontiers in endocrinology” A new MBTPS2 gene variant disrupts fat metabolism and collagen production, causing Osteogenesis imperfecta.
1 citations,
September 2021 in “Frontiers in genetics” A genetic mutation in the DCAF17 gene caused Woodhouse-Sakati syndrome in a Chinese patient from a related family.
1 citations,
January 2021 in “Dermatology online journal” A unique case showed a rare combination of two types of lichen planus on the face.
1 citations,
August 2019 in “Journal of pediatric & adolescent gynecology” A new genetic change causing early stop in the androgen receptor gene was found in a patient with androgen insensitivity syndrome.
A genetic mutation in the EDA gene causes hypohidrotic ectodermal dysplasia in cats.
December 2023 in “JCEM case reports” A new gene variant causes glucocorticoid resistance in a mother and son.
A 12-year-old girl was misdiagnosed with alopecia areata but actually had a nevus sebaceus with a genetic mutation.
April 2023 in “Journal of Investigative Dermatology” The specific skin disease variant p.(Arg2000Trp) in plectin can cause a wide range of symptoms, which should be considered when diagnosing patients.
March 2023 in “Journal of Cosmetic Dermatology” A genetic variant linked to hair thinning in Japanese women was found.
January 2023 in “Indian dermatology online journal” A child with ectodermal dysplasia-syndactyly syndrome has a new mutation in the NECTIN4 gene.
August 2022 in “Frontiers in genetics” A new genetic change in the DSC3 gene is linked to a rare condition causing hair loss and skin blisters in a child.
August 2018 in “Journal of The American Academy of Dermatology” A 90-year-old woman's hand lesion was a rare, aggressive skin cancer treated successfully with surgery.
April 2018 in “Journal of Investigative Dermatology” Screening for the NUDT15 gene variant can prevent severe side effects from thiopurine drugs in East-Asian people.
329 citations,
January 1997 in “Journal of the American Academy of Dermatology” Frontal fibrosing alopecia is a hair loss condition in postmenopausal women, similar to lichen planopilaris, with ineffective treatments.
20 citations,
May 2013 in “International Journal of Molecular Medicine” Researchers found a new gene variant linked to a rare bone disease, which doesn't always cause symptoms in carriers.
6 citations,
October 2014 in “Journal of the American Academy of Dermatology” Researchers found a potential new type of skin growth called follicular mucinous nevus.