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.
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.
January 2006 in “OpenCommons at University of Connecticut (University of Connecticut)” This study found that double transgenic Arabidopsis plants overexpressing both AVP1 and AtNHX1 showed improved salt tolerance and enhanced root hair and hypocotyl growth compared to single transgenic lines.
1 citations
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March 2023 in “European Journal of Human Genetics” This retrospective study observed that patients with vascular EDS on long-term angiotensin II receptor blockers or beta-blockers experienced fewer vascular events compared to those without cardiac medication under similar lifestyle and emergency care advice.
August 2025 in “BMC Pregnancy and Childbirth” In this study, prenatal ultrasonography was found to be a valuable tool for screening ectodermal dysplasia during pregnancy, and a new EDA gene variant associated with X-linked hypohidrotic ectodermal dysplasia was identified, aiding in more accurate diagnoses and reproductive decision-making.
1 citations
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December 1996 in “Cell Biology and Toxicology”
10 citations
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September 2015 in “PLoS ONE” This case report documents a female toddler with novel compound heterozygous mutations in the VDR gene causing hereditary 1,25-dihydroxyvitamin D-resistant rickets, expanding the known mutation spectrum for this disease.
15 citations
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November 2012 in “Archives of Ophthalmology” This description of dystrophy hypotrichosis associated with juvenile macular dystrophy provides an overview of this rare disorder characterized by short hair from birth and progressive loss of central vision but reports no new findings.
6 citations
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January 2014 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” This case series describes three siblings with hereditary vitamin D-resistant rickets, highlighting variations in their clinical presentations.
304 citations
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July 2006 in “Journal of The American Academy of Dermatology” This study found that videodermoscopy enhances diagnostic accuracy for scalp and hair disorders beyond simple clinical inspection and reveals novel disease features that could improve clinical understanding.
21 citations
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December 2019 in “PloS one” In this study, the authors concluded that the VCD-induced follicular depletion rat model can effectively simulate the perimenopause transition, with hormonal changes distinguishing early/mid-transition from late transition to estropause.
8 citations
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December 2022 in “International journal of molecular sciences” This review discusses phenotypic differences in testosterone production between mice and humans with HSD17B3 deficiency and reports no new findings; the authors highlight potential pathways and enzymes involved in testosterone synthesis.
4 citations
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January 2017 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” This study identified two distinct VDR gene mutations among Lebanese families with hereditary vitamin D-resistant rickets, noting varied treatment responses and promising outcomes despite severe phenotypes.
119 citations
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November 2016 in “American journal of human genetics” This study reports the discovery of mutations in the PADI3, TGM3, and TCHH genes as molecular genetic causes of uncombable hair syndrome in children, indicating an autosomal-recessive inheritance pattern.
23 citations
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July 2016 in “JAMA Ophthalmology” This study observed that CDH3-related congenital hypotrichosis with juvenile macular dystrophy presents with childhood-onset progressive chorioretinal atrophy and universally thin and sparse scalp hair.
30 citations
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August 2005 in “British journal of dermatology/British journal of dermatology, Supplement” This study identified a novel CDH3 mutation associated with sparse hair and pigmentary macular changes in two siblings with hypotrichosis but no visual symptoms.
7 citations
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May 2010 in “Journal of Cutaneous Pathology” This study identified a novel locus for hereditary hypotrichosis simplex on chromosome 13q12.12~12.3 in a four-generation Chinese family.
January 2002 in “Agritrop (Cirad)” This study found that mutations in exon 3 of the hr gene are strongly associated with congenital hypotrichosis in Valle del Belice sheep, suggesting a potential genetic link to the disorder.
February 2014 in “PubMed” This study reports that high-purity rHFSCs with strong proliferation and high VEGF165 expression can be efficiently obtained, facilitating tissue engineering applications like artificial hair follicles and skin construction.
13 citations
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February 2012 in “International Journal of Dermatology” This case report identifies a novel nonsense mutation in the CDH3 gene associated with hypotrichosis and juvenile macular dystrophy.
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.
January 2008 in “Summit (Simon Fraser University)” This article describes viDA Therapeutics Inc.'s focus on developing new drugs for age-related conditions using their proprietary granzyme-based approach but reports no clinical outcomes, primarily discussing their funding and business strategy.
45 citations
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October 2014 in “Stem cell research & therapy” This study found that using 3D Gel-C6S-HA scaffolds seeded with VEGF165-modified rat hair follicle stem cells enhanced angiogenesis and vascularization in tissue-engineered skin, improving wound healing.
26 citations
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August 2009 in “Journal of Pediatric Gastroenterology and Nutrition” This study reports that gastrointestinal problems, such as intractable diarrhea and enterocolitis, can dominate the clinical course of patients with Hoyeraal-Hreidarsson syndrome and may occur before hematological and immunological symptoms.
3 citations
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January 2019 in “Case Reports in Ophthalmology” This case report describes a Japanese woman diagnosed with both Vogt-Koyanagi-Harada disease and sarcoidosis, suggesting a potential shared pathophysiology between the two conditions.
October 2023 in “The Journal of Dermatology” This study developed and validated the Hair-Shedding Visual Scale for Asian Women, finding it to be an effective tool for identifying FPHL and TE.
10 citations
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January 2014 in “Journal of Pediatric Endocrinology and Metabolism” This study identified three new mutations in the VDR ligand-binding domain that may cause dysfunction, and noted that oral calcium and calcidol treatment was effective, but only one patient experienced hair growth.
3 citations
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May 2022 in “Oncogene” This study revealed that Vav2 and Vav3 play roles in regulating hair follicle bulge stem cells in normal conditions and cancer stem cell activation and remodeling in mice.
1 citations
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June 2003 in “Obstetrical & Gynecological Survey” This new method makes checking for female infertility less painful, less invasive, and doesn't use radiation.