28 citations
,
August 2014 in “Journal of Assisted Reproduction and Genetics” This study found that the VEGF +405G/C polymorphism may be an inheritable risk factor for polycystic ovary syndrome in south Indian women.
12 citations
,
July 2004 in “Molecular genetics and genomics” This study identifies a new mutation in the Scd1 gene in a strain of Kunming mice, causing skin and hair defects with the mildest impact among similar mutations.
30 citations
,
October 2009 in “Journal of Veterinary Internal Medicine” This report describes a unique case of hereditary vitamin D-resistant rickets (HVDRR) in a dog, caused by a VDR gene mutation resulting in severe hypocalcemia and bone issues, which presented with symptoms similar to those observed in humans.
46 citations
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May 2018 in “The journal of investigative dermatology/Journal of investigative dermatology” This study found that the vitamin D receptor is essential for the self-renewal, migration, and differentiation of epidermal stem cells during skin wound healing in mice.
March 2024 in “EMBO molecular medicine” This study found that the antiviral drug daclatasvir significantly improved fibrosis and quality of life in a mouse model of recessive dystrophic epidermolysis bullosa, suggesting potential for treating this and other fibrotic diseases.
September 2023 in “Bangladesh Journal of Neurosurgery” This case report shares that a 25-year-old man with cerebral arteriovenous malformation was successfully treated with stereotactic radiosurgery in Bangladesh, achieving complete obliteration of the AVM without significant clinical symptoms.
2 citations
,
January 2025 in “Dermatology Practical & Conceptual” In this study, dermoscopic examination of COVID-19 patients revealed significant microvascular changes in the proximal nailfold, such as avascular areas and disorganized capillary architecture, compared to healthy controls, with some regression of these changes observed over time.
4 citations
,
October 2021 in “Journal of Clinical Medicine” This study found that individuals with heterozygous truncation-type variants in the *DSP* gene exhibit lower skin temperature and higher transepidermal water loss, with specific microscopic skin changes and pseudomonilethrix.
9 citations
,
January 2022 in “Biology” This study concluded that male mice are more susceptible to valproic acid-induced autism spectrum disorder than female mice, with noticeable differences in brain histoarchitecture and receptor protein levels.
12 citations
,
May 2024 in “International Journal of Nanomedicine” This review discusses the potential of stem cell-derived extracellular vesicles for improving diabetic wound healing and highlights their mechanisms, limitations, and challenges, but provides no new clinical findings.
4 citations
,
December 2020 in “Dermatologic Therapy” This study reports a case of Ellis van Creveld syndrome in a 40-year-old Iranian woman, highlighting uncommon features such as pectus excavatum, Phrygian cap gallbladder, liver hemangioma, polycystic ovarian disease, and breast fibrocystic cysts.
January 2025 in “International Journal of Dermatology” This review discusses segmental vitiligo's clinical characteristics, treatment challenges, and the complex interplay with non-segmental vitiligo but reports no new clinical findings, highlighting the need for comprehensive diagnostic and management approaches.
1 citations
,
October 2024 in “JCEM Case Reports” In this case report, a patient with pseudovaginal perineoscrotal hypospadias due to 5α-reductase deficiency presented gender dysphoria, and after genomic sequencing confirmation, injectable testosterone undecanoate treatment successfully developed desired male secondary sexual characteristics.
19 citations
,
April 2021 in “Stem Cell Research & Therapy” This study found that transplantation of autologous stromal vascular fraction cells increased skin thickness and improved regeneration when combined with mechanical stretching, without severe adverse events.
1 citations
,
June 2019 in “Current developments in nutrition” This case study reports that pancreatic enzyme replacement and fatty acid supplementation improved symptoms of fat malabsorption and essential fatty acid deficiency in a patient with EDS-4.
40 citations
,
August 2010 in “Archives of dermatology” This case report describes the youngest known patient with viral-associated trichodysplasia of immunosuppression, where systemic valganciclovir therapy improved facial papule eruptions following cardiac transplantation.
59 citations
,
November 2002 in “Pediatric Dermatology” This article describes a case of dyschromatosis universalis in a young Saudi Arabian girl, discussing similar cases reported outside the Far East where the condition was initially identified, but provides no new research findings.
6 citations
,
November 2017 in “Scientific reports” This study found that a novel R343H mutation in the vitamin D receptor gene impairs its transcription activity, contributing to hereditary vitamin D-resistant rickets and alopecia in the affected family.
7 citations
,
June 2022 in “Frontiers in Medicine” This review discusses the potential of adipose-derived stem cell extracellular vesicles (ADSC-EVs) in skin regeneration, highlighting mechanisms like inflammation and angiogenesis, but reports no new clinical results; challenges and future prospects are also considered.
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.
21 citations
,
August 2002 in “British Journal of Ophthalmology” This article discusses topical and intralesional cidofovir use for SCC and suggests a successful outcome in one case, with no systemic toxicity observed so far.
1 citations
,
January 2023 in “Annals of Indian Academy of Neurology” This case report describes a middle-aged woman whose scalp condition, cutis verticis gyrata, was an early sign of systemic amyloidosis that went undiagnosed until after she experienced a stroke.
1 citations
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April 2002 in “PubMed” This case report documents a young woman who experienced a visual field defect similar to those linked to vigabatrin use, despite treatment only with valproic acid and carbamazepine, suggestive of a possible metabolic vulnerability in certain patients with specific genetic backgrounds.
September 2022 in “European Journal of Dermatology” This study identified a novel pathogenic splice-site variant of the LAMB3 gene in patients with junctional epidermolysis bullosa, highlighting the importance of gene sequencing for diagnosis.
January 2024 in “Frontiers research topics” This research abstract outlines the innovative approach of the Frontiers journal series, which aims to transform academic publishing by providing open access, interdisciplinary journals that employ a rigorous peer-review process to serve both scholarly communities and the public.
April 2017 in “Journal of Investigative Dermatology” This study found that lymphatic vessels promote hair follicle growth in mice, suggesting new therapeutic strategies for hair loss treatments.
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.
5 citations
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January 2017 in “Arquivos Brasileiros de Oftalmologia” This report describes a novel mutation in the CDH3 gene in an 11-year-old Iranian boy with hypotrichosis and juvenile macular dystrophy, indicating a new genetic variant associated with the disorder.
October 2025 in “Indian Journal of Dermatology” This study examined the dermoscopic features of five patients with tuberous sclerosis and found that dermoscopy can differentiate characteristic cutaneous features from similar conditions, potentially aiding in earlier diagnosis when other symptoms are subtle or absent.
February 2026 in “The Laryngoscope” This study reports the first case of airway involvement in Conradi–Hünermann–Happle syndrome, highlighting successful management of severe subglottic stenosis with serial endoscopic balloon dilations in a 2-month-old female.