43 citations
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April 2010 in “Clinical genetics” This study identified four novel mutations in the C2orf37 gene among Woodhouse–Sakati syndrome patients, doubling known mutations, and found no significant link between isolated symptoms like deafness and dystonia and these mutations.
15 citations
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July 2020 in “Applied Sciences” This study found that a single injection of Platelet Rich Stroma improved knee function and reduced pain and stiffness in patients with knee osteoarthritis over twelve months.
1 citations
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January 2013 in “PubMed” In this study, treating hair with thioglycolic acid was found to alter disulfide bond patterns in keratin-associated proteins, shifting them from an ellipsoidal to a near-spherical shape.
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.
In this study, radial shockwave therapy significantly improved muscle spasticity, ankle range of motion, and functional abilities in children with spastic cerebral palsy, suggesting it may help them achieve greater autonomy in daily activities.
June 2023 in “British Journal of Dermatology” This case study confirmed a diagnosis of Werner syndrome in a 27-year-old woman through genetic testing, highlighting the condition's characteristics and the importance of multidisciplinary management.
5 citations
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January 2023 in “Fertility and sterility” This review discusses the emerging considerations and challenges of uterus transplantation for transgender women but presents no new clinical results.
February 2025 in “Geriatrics and gerontology international/Geriatrics & gerontology international” This study found that cataracts, hair changes, short stature, and low bodyweight are key indicators for diagnosing Werner syndrome in patients under 30, differing from older age group symptoms.
17 citations
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December 2009 in “Journal of Pediatric Orthopaedics” This report describes two cases of toe tourniquet syndrome in infants, highlighting the importance for pediatric orthopedic practitioners to diagnose and manage it promptly, suggesting a specific incision method to release hair strangulation if removal is challenging.
37 citations
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January 2010 in “Journal of Clinical Investigation” In this study, N-WASP deficiency in mouse skin was found to cause severe alopecia and disrupt hair follicle cycling by 5 months, highlighting its critical role in skin function and Wnt signaling.
2 citations
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September 1971 in “Metabolism, clinical and experimental” In this study, patients with testicular feminization syndrome showed limited anabolic responsiveness to dihydrotestosterone, potentially due to reduced affinity of nuclear receptor sites for androgenic steroids rather than defective testosterone conversion.
3 citations
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January 2023 in “Agriculture and Natural Resources” This study found that flower extracts of Wedelia trilobata may serve as a promising active ingredient for cosmeceutical products due to their antioxidant, anti-inflammatory, and antimicrobial properties.
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.
188 citations
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June 1998 in “Molecular cell” This study found that mimicking the XPD point mutation in mice resulted in trichothiodystrophy-like symptoms, supporting the role of basal transcription and DNA repair defects in the disease.
February 2006 in “Inpharma Weekly” 1 citations
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February 2025 in “Archives of Dermatological Research” This study found that transcutaneous electrical acustimulation aided wound healing in mice by enhancing expression of proteins related to signaling pathways, stress recovery, and mitochondrial function.
January 2022 in “International review of movement disorders” In this review, the authors found that cannabinoids and steroid-related drugs show potential for treating Tourette syndrome, but existing evidence is limited and further research is needed to confirm their efficacy and safety.
6 citations
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January 2013 in “Urology” This case report describes an 8-year-old child with penile tourniquet syndrome due to a constricting thread, which led to partial distal penile amputation and required surgical intervention.
5 citations
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September 2018 in “Bioscience, Biotechnology, and Biochemistry” In this study, sodium thiosulfate was observed to promote hair growth in mice by encouraging hair follicles to enter the growth phase and complementing the effects of minoxidil, suggesting potential benefits for hair loss treatment.
2 citations
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August 2022 in “Frontiers in Endocrinology” This study reported that myeloid-specific Wnt production did not affect wound healing or blood vessel density in mice but influenced endovascular progenitor cell kinetics during angiogenesis.
7 citations
,
March 2004 in “Journal of the American Academy of Dermatology” Tiger tail banding and hair abnormalities are reliable indicators for diagnosing trichothiodystrophy.
1 citations
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January 2008
1 citations
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September 2023 in “British journal of dermatology/British journal of dermatology, Supplement” The researchers reported that WNT10A gene variants are linked to short anagen hair syndrome, which suggests a potential genetic factor contributing to this hair condition.
April 2007 in “Nature Clinical Practice Urology” TICE salvage chemotherapy is effective for treating germ-cell tumors with poor prognosis.
In this study, researchers found two non-synonymous SNPs in the TERT gene associated with mean wool staple strength in sheep, suggesting TERT as a potential candidate gene for improving wool traits.
February 2022 in “Fibers” This study found that a sucrose-based crosslinker can effectively straighten hair and maintain durability in high humidity and through repeated washings without affecting the hair's tensile properties or causing surface damage.
May 1963 in “American journal of obstetrics and gynecology” This study found that a single 2 ml injection of TEEV every 4 weeks offers similar beneficial effects with fewer side effects compared to injecting the same dose every 2 weeks in postmenopausal women.
5 citations
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January 2012 in “Indian Journal of Dermatology Venereology and Leprology” Werner's syndrome causes early aging and increases cancer risk, requiring early diagnosis and symptom management.
18 citations
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November 2008 in “Disease-a-Month” This study developed a multifunctional injectable hydrogel that effectively provided hemostasis and accelerated healing of infected skin wounds, demonstrating significant potential for clinical wound dressing applications.