4 citations
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February 2023 in “Research Reports in Clinical Cardiology” This study found that the ACE gene DD genotype and D allele are linked to an increased risk of hypertensive IHD complications, with dyslipidemia also identified as a significant risk factor for ischemic heart disease.
December 2022 in “American journal of medical genetics. Part A” This case report describes an instance of autosomal recessive uncombable hair syndrome caused by maternal uniparental disomy of chromosome 1.
6 citations
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December 2021 in “Scientific Reports” This study found that inhibiting class I histone deacetylases in postnatal mouse dermal cells preserved their ability to induce hair follicles during culture by increasing specific gene expressions and activating the Wnt signaling pathway.
8 citations
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March 2007 in “The journal of investigative dermatology/Journal of investigative dermatology” This study reports that the near-naked hairless mutation in mice is not an allele of the Hairless gene but may involve a mutation in a linked gene or a regulatory mutation.
January 1996 in “Studia iuridica” This study identified two novel point mutations in the hHb6 gene associated with monilethrix, suggesting these mutations could serve as diagnostic markers for this genetic hair disorder.
April 2018 in “Journal of Investigative Dermatology” This study found that the absence of Hes1 in hair follicles delays secondary hair germ activation and shortens the anagen phase, impacting HFSC self-renewal and long-term hair regeneration.
2 citations
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September 2021 in “Orphanet Journal of Rare Diseases” In this study, HED patients with COVID-19 showed a higher risk of postinfection fatigue and hair loss compared to controls, suggesting they are more susceptible to long-term consequences of SARS-CoV-2 infection.
2 citations
,
January 2016 in “Experimental Dermatology” This symposium updated participants on the latest advances in understanding and managing hidradenitis suppurativa, emphasizing the need for individualized treatment plans and highlighting recent progress in therapies and epidemiology.
81 citations
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July 2008 in “The Journal of Clinical Endocrinology and Metabolism” This study found that cortisone reductase deficiency is caused by inactivating mutations in the H6PD gene, affecting cortisol metabolism by preventing 11β-HSD1 enzyme function.
May 2009 in “OPAL (Open@LaTrobe) (La Trobe University)” In this study, a transgenic mouse model suggested that suppressing the expression of the HGPS mutation may reverse disease symptoms, including skin abnormalities, supporting the potential for treatment development.
17 citations
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January 2011 in “The Korean Journal of Hepatology” This case report details an occurrence of Vogt-Koyanagi-Harada disease during pegylated interferon-α2b and ribavirin therapy for chronic hepatitis C.
46 citations
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August 2006 in “PubMed” In this study, researchers identified and examined males with 17 beta-HSD3 deficiency in a highly inbred Arab population, noting genetic findings and the progression of male characteristics despite being raised as females initially.
12 citations
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September 2014 in “Bone” This study characterized two siblings with hereditary vitamin D resistant rickets and a mutation in the vitamin D receptor, finding no immune-related disorders despite a defective T cell response to vitamin D.
August 2022 in “JAAD case reports” This case report describes a 36-year-old woman with hidradenitis suppurativa whose condition progressed to rapidly fatal squamous cell carcinoma, highlighting the potential for aggressive tumor development linked to specific protein markers.
January 2026 in “Contemporary Clinical Dentistry” This case report describes a rare instance of Vogt-Koyanagi-Harada disease in a 21-year-old Asian woman, highlighting unusual oral manifestations such as tooth discoloration and misalignment, which expand the known clinical spectrum of the disorder.
14 citations
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July 2010 in “Experimental Dermatology” A new mutation in the HR gene causes hair loss in a specific family.
February 2025 in “Infectious Diseases & Immunity” This case report highlights two instances of suspected human herpesvirus 6 reactivation in patients with existing psychiatric disorders, underscoring the need for further research into the relationship between viral reactivation and psychiatric conditions.
1 citations
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June 2022 in “Experimental dermatology” This study found that SHJH hr mice, with a Hairless gene mutation, exhibit accelerated skin aging potentially due to poor antioxidative protection, highlighting the Hr gene's role in skin aging.
January 2024 in “Theranostics” This study found that HDAC6 plays a crucial role in regulating primordial follicle activation, with its overexpression delaying activation and preserving fertility by reducing NGF levels.
68 citations
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November 2011 in “The American journal of pathology” This review discusses the role of the hedgehog signaling pathway in hematological cancers and its potential as a therapeutic target; it reports no new clinical findings.
41 citations
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May 2020 in “Frontiers in immunology” This review discusses the genetic, autoinflammatory, and keratinization factors involved in hidradenitis suppurativa and presents the concept of classifying it as an autoinflammatory keratinization disease, but reports no new clinical results.
6 citations
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June 2016 in “Journal of cellular biochemistry” This study found that the mammalian Hr protein can interact with the p53 pathway by binding to a specific p53 response element, influencing the regulation of genes involved in cell cycle control.
5 citations
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September 2011 in “Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease” Hairless protein helps control hair growth by regulating vitamin D receptor activity.
May 2025 in “Dermatology Reports” In this case study from King Fahad University Hospital, an 11-month-old Saudi boy with a history of short, non-growing hair was diagnosed with autosomal recessive woolly hair/hypotrichosis, attributed to a homozygous mutation in the LIPH gene.
This article reviews current understanding of Hutchinson–Gilford Progeria Syndrome and suggests RNA-based treatments show promise, but no new clinical findings are reported.
1 citations
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January 2024 in “Pediatric Endocrinology Diabetes and Metabolism” In this retrospective study of eight Saudi children with hereditary vitamin D resistant rickets, researchers observed that adjunctive cinacalcet appeared safe and showed initial promise in improving serum PTH levels, though further investigation is needed to confirm its efficacy.
33 citations
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October 2005 in “Journal of Investigative Dermatology” A specific gene mutation causes sparse, brittle hair in a family.
11 citations
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July 2010 in “European Journal of Dermatology” In this study, researchers confirmed linkage of a form of hair-nail ectodermal dysplasia to chromosome 12 in a Pakistani family, suggesting a possible non-coding mutation in KRTHB5 or a mutation in an unknown gene.
58 citations
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April 2012 in “Journal of the American Academy of Dermatology” Graft-versus-host disease is a complication where donor immune cells attack the recipient's body, often affecting the skin, liver, and gastrointestinal tract.
7 citations
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February 2015 in “Journal of comparative pathology” This study observed that NSG-hu-BLT mice developed graft-versus-host disease characterized by CD8+ T lymphocyte-related cell death in the skin and liver, which may affect their utility in other research areas.