30 citations
,
June 2016 in “Journal of Human Genetics” Researchers found genetic mutations causing hypohidrotic ectodermal dysplasia in 88% of studied patients and identified new mutations and genetic variations affecting the disease.
December 2009 in “Cancer Research” Over-expression of Sp2 can lead to cancer by preventing proper stem cell differentiation.
July 2024 in “Journal of Investigative Dermatology” Brepocitinib reduces interferon signaling in hidradenitis suppurativa patients.
28 citations
,
August 2003 in “Steroids” Hirsute women have lower type 2 17β-HSD enzyme levels, which improve with treatment.
26 citations
,
June 2004 in “Clinical Genetics” The keratin 5 mutation in a family with epidermolysis bullosa simplex was due to mosaicism, not a new mutation.
3 citations
,
September 2018 in “JAAD case reports” A Japanese man with rare skin conditions improved with hydroxychloroquine treatment.
3 citations
,
February 2020 in “The journal of gene medicine” A mutation in the HR gene causes a rare form of irreversible hair loss in two Kashmiri families. Whole exome sequencing is effective for finding such mutations.
29 citations
,
October 2019 in “Journal of dermatological science” Studying premature aging syndromes helps understand human aging and suggests potential treatments.
78 citations
,
October 2020 in “Experimental Dermatology” Hidradenitis suppurativa is caused by genetic factors, inflammation, bacteria, hormones, and lifestyle factors like obesity and smoking.
April 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” HPV8 causes hair follicle stem cells to grow, leading to skin lesions.
September 2019 in “Journal of Investigative Dermatology” Severe Hidradenitis Suppurativa increases missed and unproductive workdays.
Hair cortisol may help identify adrenal insufficiency in sickle cell disease patients.
January 2026 in “Zenodo (CERN European Organization for Nuclear Research)” Hidradenitis suppurativa is a chronic skin disorder linked to genetics, lifestyle, and immune issues, treatable with medication and sometimes surgery.
1 citations
,
June 2021 in “Cureus” A girl with hereditary chorea, likely Huntington's disease, had her condition worsened by lupus.
10 citations
,
January 2003 in “Dermatology” The E413K mutation in the hHb6 gene causes monilethrix, a hair disorder, but doesn't show consistent symptoms.
20 citations
,
December 1999 in “Journal of Investigative Dermatology” Mutations in the hHb6 gene cause the hair disorder monilethrix.
PNH can occur in patients with SLE, so doctors should be aware of this.
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.
7 citations
,
May 2010 in “Journal of Cutaneous Pathology” A new genetic area linked to a rare hair loss condition was found on chromosome 13 in a Chinese family.
1 citations
,
August 2021 in “Canadian journal of neurological sciences” Woodhouse-Sakati syndrome can cause writer's cramp and other varied symptoms, highlighting the importance of genetic testing for diagnosis.
3 citations
,
December 2023 in “Aging” hsa_circ_0002980 can help stop liver cancer cells from growing and spreading.
6 citations
,
January 2014 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” Three siblings with a genetic form of rickets showed different symptoms of the disease.
7 citations
,
February 2015 in “Journal of comparative pathology” CD8+ T cells play a key role in graft-versus-host disease in certain mice models.
January 2025 in “Turkish Journal of Cerebrovascular Diseases” CARASIL can cause different symptoms even with the same genetic mutation.
July 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” The early genes of a specific virus can cause abnormal skin cell growth and hair follicle changes.
December 2023 in “American journal of medical genetics. Part A” A new syndrome was linked to two new genetic changes in the MBTPS1 gene in a 14-year-old girl.
4 citations
,
March 2021 in “Journal of Histotechnology” Hidradenitis suppurativa lesions have less collagen and elastin but more new blood vessels.
July 2020 in “Nepalese journal of ophthalmology” A boy with progeria had eye problems and signs of aging like hair loss and skin wrinkling.
June 2026 in “bioRxiv (Cold Spring Harbor Laboratory)” AQB reduces harmful skin changes in systemic sclerosis.
5 citations
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February 2022 in “Seminars in cell & developmental biology” Recent findings suggest that genetic factors, immune system issues, and skin cell defects might contribute to the development of hidradenitis suppurativa.