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.
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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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.
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 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.
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.
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.
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.
43 citations
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December 2013 in “Seminars in Cell & Developmental Biology” This mini-review discusses human hair follicle development and summarizes genetic disorders linked to abnormalities in hair follicle morphogenesis, structure, or regeneration, but reports no new experimental results.
7 citations
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June 2022 in “Czech Journal of Animal Science” This study identified 21 novel circular RNAs in cashmere goats, with nine significantly more expressed during the anagen phase of hair follicle growth, suggesting roles in hair regeneration and cashmere yield enhancement.
1 citations
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March 2022 in “bioRxiv (Cold Spring Harbor Laboratory)” This study examined wool traits in Angora rabbits using low-coverage whole genome sequencing, identifying six QTLs and a gene, FGF10, linked to fiber growth and diameter, suggesting a cost-effective approach for complex trait analysis in genomic breeding.
October 2025 in “Animal Bioscience” This review summarizes the application of genome wide association studies and selection signature analyses in sheep and goat breeding in China, highlighting genomic regions that influence traits like reproductive performance and body size.
15 citations
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June 2019 in “Biochemical Journal” This study identified a heterozygous de novo mutation in the ODC1 gene causing a new disorder characterized by overgrowth and developmental delay, and suggests that DFMO treatment may help manage elevated ODC activity and putrescine levels.
1 citations
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May 2024 in “Communications Biology” This study found that Dab2 conditional knockout mice experienced delayed hair follicle cycles and reduced hair follicle stem cell activity, suggesting Dab2's crucial role in regulating stem cell activation and anti-aging process in hair follicles.
November 2022 in “CARDIOMETRY” This article discusses the potential benefits of GcMAF and oral MAF, developed by "Saisei Mirai", for cancer and other conditions, but reports no new clinical results.
December 2025 in “Clinical Cosmetic and Investigational Dermatology” This study highlights the potential of ZDHHC17 methylation as a biomarker or therapeutic target in addressing skin aging, offering new insights into its molecular mechanisms.
61 citations
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July 2022 in “Journal of Nanobiotechnology” This study found that carbon dots derived from fucoidan effectively inhibit Enterococcus faecalis and its biofilm, offering a promising approach for managing biofilm-associated persistent endodontic infections.
39 citations
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September 2018 in “American Journal of Medical Genetics Part A” This case report describes a 32-month-old girl with a newly identified pediatric disorder linked to a de novo mutation in the ODC1 gene, mirroring symptoms seen in a transgenic mouse model.
27 citations
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May 2007 in “Archives of dermatological research” In this study, alopecia areata patients treated with diphencyprone showed a significant increase in CD8 lymphocytes around hair bulbs, which may be associated with hair regrowth.
October 2007 in “Clinical Biochemistry” This study identified a new genotype, V281+I172N/V281L, linked to non-classical 21-hydroxylase deficiency, suggesting it should be considered in genetic panels for the condition.
July 2023 in “Developmental medicine and child neurology/Developmental medicine & child neurology” This study found that patients with Bachmann-Bupp syndrome treated with DFMO showed improvements in hair growth, muscle tone, and development.
1 citations
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August 2016 This study investigated the cytotoxic effects of DHA derivatives on cancer cell lines and found that didocosahexaenoin was the most potent, inducing apoptosis and producing reactive oxygen species in PC3 prostate carcinoma cells.
January 1982 in “Clinical Cosmetic and Investigational Dermatology” This case report describes a 54-year-old woman with familial dyskeratotic comedones who experienced slight improvement in her skin lesions after three months of treatment with topical retinoids and urea cream.