2 citations
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March 2003 in “Endocrine Practice” The woman's symptoms and tests suggest her adrenal glands are producing too many male hormones.
July 2025 in “SVU-International Journal of Medical Sciences” This case report presents the dental challenges faced by a child with vitamin D-dependent rickets type II, including early onset rickets, alopecia, and specific dental abnormalities, emphasizing the need for comprehensive, multidisciplinary management.
This study found significant cephalometric changes in patients with skeletal Class III malocclusion treated with rapid maxillary expansion and reverse traction, demonstrating maxilla advancement and improved facial convexity.
5 citations
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January 1996 in “Theriogenology” 10 citations
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September 2021 in “American Journal of Medical Genetics Part A” This study on Qatari patients with Woodhouse-Sakati syndrome highlights the high incidence and diverse clinical presentation due to a specific genetic variant, emphasizing early diagnosis for effective management.
15 citations
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December 2009 in “PubMed” This case study highlights a pediatric instance of eruptive vellus hair cysts partially responding to calcipotriene cream, aiming to remind clinicians about this often overlooked condition.
2 citations
,
September 2022 In this study, researchers found that a PER3 gene SNP may be pathogenic for a new subtype of dyschromatosis universalis hereditaria, especially when combined with a SASH1 mutation.
1 citations
,
April 1998 in “PubMed”
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.
1 citations
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September 2025 in “Viruses” This study of HCPS survivors in Chile found that 61.9% reported incomplete recovery at 3-6 months post-symptom onset, with ECMO users experiencing more motor dysfunction and palpitations, highlighting the need for multidisciplinary care to address persistent symptoms.
July 2021 in “Veterinary record/The veterinary record” This report from SRUC VS highlighted a suspected case of Schmallenberg virus infection in a calf born to an imported heifer, noting consistent clinical signs and seroconversion in the dam.
28 citations
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June 2020 in “ACS Biomaterials Science & Engineering” This study found that a novel ECM patch combining human fibroblast-derived matrix and PVA hydrogel, seeded with human mesenchymal stem cells, significantly improved wound healing and tissue regeneration in a mouse model.
5 citations
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November 2012 in “Journal of the American Academy of Dermatology” This case report describes a 3-year-old girl with short hair since birth, showing normal hair density with many vellus and intermediate hairs, and no hair shaft abnormalities.
2 citations
,
January 2025 in “Brazilian Journal of Medical and Biological Research” This study demonstrated that VD3 significantly enhanced the proliferation and differentiation of epidermal stem cells in a murine skin defect model, leading to improved wound healing, potentially through activation of the PI3K signaling pathway.
26 citations
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March 2006 in “Endocrine, metabolic & immune disorders. Drug targets” This article discusses the functions of the enzyme 17beta-HSD10, including its role in steroid metabolism and potential links to Alzheimer's disease, but reports no new experimental findings.
October 2017 in “The Indian Journal of Animal Sciences” This study found that prolactin gene polymorphism in Changthangi goats showed no significant association with Cashmere quality traits, indicating the need for further research with larger sample sizes.
7 citations
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August 2023 in “Therapeutic Innovation & Regulatory Science” This study developed a standardized strategy using blinded expert panel reviews of home videos to assess developmental milestones in infants with neurodegenerative diseases, finding it to be feasible, meaningful, and preferred by parent/caregivers compared to in-clinic assessments.
17 citations
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August 2012 in “Journal of Medical Genetics” This article reviews the genetic mutations associated with hypohidrotic ectodermal dysplasia and reports no new clinical results; the authors highlight the roles of EDA gene isoforms and related receptors.
42 citations
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July 2010 in “International Journal of Dermatology” This article reviews the use of dermatoscopy and videodermatoscopy in therapeutic follow-up, noting that videodermatoscopy is a reliable tool despite potential cost issues with high magnifications.
7 citations
,
December 1987 in “Fertility and sterility” The vellus index is a simple, quick, and reliable method to assess and monitor hair growth, especially in hirsutism.
100 citations
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August 2011 in “Journal of Investigative Dermatology” Lack of vitamin D receptor increases skin tumor risk by boosting hedgehog signaling.
15 citations
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January 2019 in “Journal of the Formosan Medical Association” This case study reports that adding adalimumab to a 12-year-old VKH patient's treatment allowed for ocular inflammation remission, vision improvement, and corticosteroid tapering, suggesting escalation of immunosuppression may be critical in pediatric VKH cases.
September 2025 in “Chemical Engineering Journal” This study found that poly(butylene citramalate-co-butylene succinate) copolymers exhibit high toughness, recyclability, degradability, and biocompatibility, achieving complete wound healing with skin and hair follicle regeneration in 7 days.
February 2026 in “Orphanet Journal of Rare Diseases” This study identified pathogenic or likely pathogenic gene variants in 70.1% of Russian families affected by hypohidrotic ectodermal dysplasia, expanding knowledge of causative mutations.
1 citations
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June 2019 in “Current developments in nutrition” This case study reports that pancreatic enzyme replacement and fatty acid supplementation improved symptoms of fat malabsorption and essential fatty acid deficiency in a patient with EDS-4.
August 2026 in “Acta Biomaterialia”
260 citations
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July 2010 in “Cell” This study identifies mutations in the SRD5A3 gene as a cause of a new type of congenital disorder of glycosylation, impacting mental, ophthalmologic, and cerebellar functions.
1 citations
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July 2024 in “JCEM Case Reports” This report highlights a new genetic variant of Woodhouse-Sakati syndrome in two sisters from the first identified family case in Russia, emphasizing the varied manifestations of the disorder and the importance of genetic testing for diagnosis and patient-specific treatment planning.
June 2010 in “Journal of Veterinary Clinics” This study established an experimental model to visualize calcium ion distribution after skin barrier damage in canine epidermis, observing that calcium gradients changed differently depending on the type of damage and time elapsed.
2 citations
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July 2013 in “Journal of Life Sciences” In this case report, researchers described a two-year-old girl with Vitamin D dependent rickets Type II, noting elevated 1,25-dihydroxyvitamin D3 and alopecia, and observed limited treatment response likely due to poor compliance.