5 citations
,
August 2021 in “Journal of biological chemistry/The Journal of biological chemistry” This study observed sexually dimorphic effects of reduced Rdh10 on energy metabolism and muscle function in mice, with males experiencing decreased endurance and females showing increased endurance on a high-fat diet.
June 2026 in “Value in Health”
29 citations
,
January 2010 in “Methods in Enzymology” This review discusses five genetic fate mapping methods used to study cell behaviors during development and regeneration, detailing the necessary tools and considerations without reporting new experimental results.
5 citations
,
February 2022 in “Molecular genetics & genomic medicine” This study identified genetic variants in the DSG4 gene associated with the autosomal recessive form of monilethrix in Chinese patients, expanding the understanding of its phenotypic spectrum and clinical features.
January 2026 in “Case Reports in Rheumatology” This case report described a woman with systemic lupus erythematosus and Type 2 diabetes who developed dermatomyositis, showing improvements in muscle strength and creatine kinase levels following treatment with rituximab.
9 citations
,
November 2019 in “Cell calcium” This study found that a mutation causing Stormorken syndrome in mice led to skeletal abnormalities and unusual hair growth, showcasing the STIM1 R304W protein’s role in bone development and cell fate.
3 citations
,
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.
April 2024 in “BMB Reports” This study used Cisd2 knockout mice models and found that these mice display premature aging characteristics and an increase in dysfunctional neutrophils, suggesting Cisd2's role in calcium homeostasis and neutrophil function via interactions with Calnexin and SERCA.
10 citations
,
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.
91 citations
,
July 2004 in “Journal of Biological Chemistry” This study found that overexpression of the enzyme SSAT in a mouse model significantly reduced prostate tumor size and progression, suggesting it could be a promising strategy against prostate cancer.
6 citations
,
March 2016 in “PLoS ONE” This study characterized hair from a patient with a ribosomopathy and identified distinct differences, including reduced hair thickness and lipid content, compared to family members.
September 2022 in “Research Square (Research Square)” This study found that overexpressing Rps14 in supporting cells promoted hair cell regeneration in the organ of Corti by facilitating cell proliferation and differentiation.
33 citations
,
February 2016 in “Journal of Experimental Botany” This study found that the receptor kinase RHS10 negatively regulates root hair growth in Arabidopsis thaliana by modulating growth duration and is associated with cell wall signal mediation, involving RNA catabolism and ROS accumulation.
57 citations
,
August 1997 in “Pediatrics International” This abstract discusses two types of hereditary vitamin D metabolism defects, VDDR I and VDDR II, and reports on their distinct characteristics and treatment responses, without presenting new clinical data.
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.
7 citations
,
July 2017 in “Australasian Journal of Dermatology” This article evaluates reflectance confocal microscopy features of scalp melanoma but reports no new clinical results, suggesting further investigation is needed.
April 2026 in “Zenodo (CERN European Organization for Nuclear Research)” This research presents the Dodatek A model, elaborating on androgen function through new mathematical indices and methodological improvements, shifting focus from serum hormone concentrations to system interactions to better describe androgen activity comprehensively.
4 citations
,
August 2019 in “Actas Dermo-Sifiliográficas” This study evaluated the Spanish version of the Hair Specific Skindex-29 questionnaire and found it sensitive to changes in health-related quality of life among women with female-pattern hair loss.
December 2005 in “Science s STKE” This study reports that localized Rho GTPase activity and ROS production play a critical role in polarized growth and movement in both migrating endothelial cells and developing plant root hairs.
40 citations
,
October 2012 in “Journal of the American Academy of Dermatology” This study found that the Cutaneous Lupus Disease Area and Severity Index (CLASI) is correlated with both physician-assessed and patient-reported outcomes in cutaneous lupus erythematosus, particularly highlighting concerns about body image in visible areas.
September 2016 in “Journal of Dermatological Science” This study found that knockout mice lacking SMS1 showed reduced body weight and hair loss, indicating a role for SMS1 in normal growth and hair health.
8 citations
,
March 2011 in “Endocrine” In this study, researchers identified a novel p.R50X mutation in the vitamin D receptor gene, linked to hereditary vitamin D-resistant rickets in two siblings.
28 citations
,
June 1995 in “The Journal of Dermatology” This study reports that flaky skin mice exhibit skin and nail features that closely resemble human psoriasis vulgaris, suggesting they may serve as a natural model for this condition.
19 citations
,
February 2001 in “Journal of paediatrics and child health” This report documents a 14-year-old Chinese boy with mitochondrial encephalopathy, lactic acidosis, stroke-like episodes, and a de novo A3243G mitochondrial DNA mutation, highlighting the condition's multisystem involvement without ragged red fibers in muscle biopsy.
April 2014 in “The FASEB journal” In this study, Rhododendron molle extract increased hair follicle length and growth factors while reducing mast cell and substance P expression in stressed mice, suggesting potential benefits for hair growth.
2 citations
,
August 2017 in “Drug and therapeutics bulletin” This article reviews various updates in dermatology, including drug safety alerts and treatment options, and reports no new clinical results.
June 2022 in “Research Square (Research Square)” In this study, higher DHA/omega-6 fatty acid ratios were linked to increased social impairment in individuals with autism, alongside lower antioxidant enzyme levels and higher markers of lipid peroxidation.
March 2014 in “Journal of The American Academy of Dermatology” Reflectance confocal microscopy can noninvasively diagnose onychomatricoma by showing unique features different from healthy nails or nail fungus.
5 citations
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December 2017 in “The Journal of Dermatology” This report describes a unique case of Schöpf–Schulz–Passarge syndrome in a Taiwanese man linked to a previously unreported homozygous WNT 10A mutation, underscoring its role in ectodermal dysplasia.
2 citations
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June 2025 in “Medicina” This retrospective study in pediatric patients with Sjögren's syndrome found consistent indications of tear film instability and identified systemic features like arthralgia, Raynaud's phenomenon, and frequent autoantibody positivity, underscoring the value of integrating clinical and ophthalmological assessments for early diagnosis.