3 citations
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December 2021 in “Frontiers in endocrinology” In this study, a novel DCAF17 gene mutation was identified in a Chinese family, suggesting a potential role in pancreatic β cell dysfunction and diabetes development in Woodhouse-Sakati syndrome.
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.
1 citations
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September 2021 in “Frontiers in genetics” This case report identifies a previously undocumented nonsense mutation in DCAF17 in a Chinese patient with Woodhouse-Sakati syndrome, inherited from consanguineous parents.
This case report describes a 33-year-old Kashmiri woman with Woodhouse-Sakati syndrome who has a rare DCAF17 gene mutation, c.321+1G>A, providing further evidence for its role in the genetic basis of this neuroendocrine disorder.
50 citations
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October 1986 in “European journal of pediatrics” This case study reported that absence of alopecia does not reliably predict responsiveness to vitamin D treatment in Vitamin D-dependent rickets type II, as demonstrated by a patient with normal hair growth who showed extreme resistance.
18 citations
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March 2016 in “Journal of Investigative Dermatology” This study found that calbindin-D9k knockout mice on a maternal vitamin D-deficient and low-calcium diet developed transient alopecia, but a high-vitamin D and calcium diet in mothers reduced this effect.
14 citations
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March 2018 in “The American journal of case reports” This study highlights the phenotypic variability in 5 patients with Woodhouse-Sakati syndrome carrying the c.436delC mutation, suggesting a broader range of clinical presentations than previously recognized.
31 citations
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May 2017 in “JAAD Case Reports” This article reviews the use of deoxycholic acid as a nonsurgical treatment for unwanted fat in the cosmetic field but reports no new clinical results.
31 citations
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January 2014 in “Journal of endocrinological investigation” This study reviewed Woodhouse-Sakati syndrome and found it consistently associated with hypogonadism, decreased IGF1, and frontotemporal alopecia, with additional symptoms like intellectual disabilities and diabetes in some patients.
25 citations
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July 2020 in “Journal of cosmetic dermatology” In this study, the authors reported that while deoxycholic acid effectively reduces submental fat, it can cause adverse effects such as edema, numbness, and skin necrosis, making knowledge of possible complications essential for clinicians.
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.
7 citations
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January 2015 in “Case reports in genetics” This case report illustrates how SNP array testing helped identify a DCAF17 mutation linked to Woodhouse-Sakati syndrome in consanguineous Qatari siblings with shared features including alopecia and hypogonadotropic hypogonadism.
5 citations
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November 2021 in “Saudi medical journal” This report describes three Saudi sisters with Woodhouse-Sakati syndrome, who exhibited typical features of the condition along with unusual gynecological anomalies.
4 citations
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December 2021 in “Journal of clinical laboratory analysis” This study identified a splicing-site deletion in the DCAF17 gene associated with Woodhouse-Sakati syndrome in a large consanguineous pedigree, leading to typical phenotypic features.
1 citations
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August 2021 in “Canadian journal of neurological sciences” This article offers HTML content and a downloadable PDF but does not provide an abstract or new findings for summary.
July 2024 in “Journal of Rare Diseases” This review describes the genetic and phenotypic diversity of Woodhouse-Sakati syndrome, highlighting new DCAF17 gene variants and their varying clinical implications.
September 2022 in “World Journal of Advanced Research and Reviews” This study introduced a Density-Calibrated Airtouch Protocol (DCAP) that suggests customizing the Airtouch hair coloring technique based on client hair density to optimize color blend, pigment longevity, and hair health.
July 2021 in “Scholars Journal of Medical Case Reports” In this report, a 16-year-old Saudi girl with Woodhouse-Sakati Syndrome exhibited unique findings, including hepatic hemangioma and low growth hormone, suggesting the importance of considering WSS in similar clinical presentations.
14 citations
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January 2024 in “Theranostics” In this study involving a mouse model, researchers reported that intranasal delivery of protein-based CRISPR/dCas9 nanoparticles targeting the gene *Sirt1* reduced cerebral edema and increased survival following ischemic stroke, with no significant toxicity observed.
1 citations
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January 2024 in “Skin research and technology” This study reviewed various lipolytic agents for reducing submental fat and highlighted that while deoxycholic acid is FDA-approved, other compounds like phosphatidylcholine with deoxycholate lack cosmetic approval due to safety concerns. Understanding these agents' mechanisms and anatomy is crucial for safe fat reduction applications.
2 citations
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November 2024 in “PLoS ONE” This study assessed breeding value estimation methods for Korean Sapsaree dogs, finding varied accuracy across BLUP approaches and identifying significant genomic regions affecting traits like body height and hair length. The researchers suggest these findings can enhance breeding strategies for this culturally significant breed.
42 citations
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February 1998 in “The Journal of Steroid Biochemistry and Molecular Biology” This study found that PNU 157706 is a highly potent inhibitor of human 5α-reductase enzymes, showing a stronger and longer-lasting antiprostatic effect in rats compared to finasteride.
28 citations
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September 2019 in “International Journal of Nanomedicine” This study found that minoxidil nanoparticles increased drug delivery to hair follicles and improved hair growth more effectively in mice than conventional minoxidil formulations.
July 2007 in “Clinical Risk” The claimant sued for negligence after a hair treatment caused harm and distress, and the defendant responded after legal action started.
24 citations
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July 2016 in “Revue Neurologique” This review discusses treatment options for tics in Gilles de la Tourette syndrome, highlighting existing therapies and potential future advancements, but reports no new clinical findings.
19 citations
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December 2015 in “European Journal of Human Genetics” This study found that a novel rare variant in ITGB6 may cause intellectual disability, alopecia, and dentogingival anomalies in a specific Pakistani family, highlighting a potential role for ITGB6 beyond enamel formation.
15 citations
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October 2016 in “Journal of dermatological treatment” This paper reviews the literature on acquired trichorrhexis nodosa, a clinical hair loss diagnosis associated with hair care practices, particularly in those with tightly curled hair, and emphasizes management through protective hair care regimens rather than traditional prescription therapies.
14 citations
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April 2021 in “Biology” This study found that ethanol extract of Tubtim Chumphae rice bran downregulates SRD5A gene expression, similarly to finasteride, suggesting potential use as an anti-hair loss product.
5 citations
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October 2013 in “Experimental Dermatology” This study observed that putrescine and HR form a negative feedback mechanism affecting hair cycling, indicating a significant connection between HR, polyamines, and hair growth regulation.
January 2026 in “International Journal of Women s Health” This study found that a nomogram prediction model based on clinical characteristics, bone metabolism, and ovarian function can effectively predict the treatment response to long-acting GnRHa in girls with idiopathic central precocious puberty.