1 citations
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January 2015 in “Case reports in endocrinology” This case report highlights that women with nonclassical congenital adrenal hyperplasia should be aware of the risk of having a child with classical CAH if their partner also carries a severe mutation.
September 2014 in “Genes and Cells” This study observed that using transfected human cord blood cells enhanced skin wound healing in rats by promoting angiogenesis and earlier termination of proliferation compared to untransfected cells.
3 citations
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August 2022 in “Biochemical Genetics”
2 citations
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March 2023 in “Journal of Nepal Medical Association” This study found that 40.42% of undergraduate medical students aged under 25 had early canities, with grade I being the most common.
June 2026 in “Reproductive Biology” 8 citations
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June 2020 in “The journal of investigative dermatology/Journal of investigative dermatology” This study provides definitive evidence that a homozygous mutation in the DSC3 gene causes skin fragility and hypotrichosis in humans.
September 2008 in “Fertility and Sterility” This study found that both men and women in infertile couples perceive using donor sperm as more likely to cause stress, marital problems, and a diminished sense of joint parenthood compared to donor eggs.
28 citations
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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.
8 citations
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August 2009 in “Pediatric transplantation” This report presents a case where a patient with Omenn syndrome, complicated by cytomegalovirus infection, was successfully treated using reduced intensity conditioning allogeneic HSCT from a sibling donor.
5 citations
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December 2011 in “Vox Sanguinis” This study found that blood samples from donors on teratogenic drugs sometimes exceeded recommended concentration limits, suggesting a need for improved deferral policies.
November 2023 in “Gastroenterology” This case study identified non-criteria antiphospholipid syndrome as a potential underlying cause of Budd-Chiari syndrome in a patient, emphasizing the need for its consideration, especially in cases with multiple thromboemboli and thrombocytopenia.
February 2024 in “bioRxiv (Cold Spring Harbor Laboratory)” This study found that certain tandem repeats predict darker hair color across diverse ancestry groups and can contribute to a polygenic score for hair color, independent of SNP variation.
19 citations
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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.
This case report describes a rare instance of familial congenital atrichia in a 16-year-old girl, possibly involving a genetic component, as both her parents exhibit similar clinical features.
14 citations
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June 1989 in “Journal of dermatology” This report describes the first documented occurrence of Vohwinkel's disease combined with congenital alopecia universalis in siblings from the same family, both unresponsive to prior treatments.
7 citations
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May 2024 in “Gels” This study evaluated a new collagen and tannic acid hydrogel in rat liver and heart bleeding models, finding it reduced blood loss and hemostatic time compared to commercial products, with benefits such as enhanced biodegradability and potential for clinical use.
11 citations
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February 1989 in “Journal of veterinary medicine. Series A” This study observed that congenital hypotrichosis in crossbred cattle is linked to short, curly, dilute-color hair, potentially due to color dilution mutants in European breeds.
254 citations
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January 2012 in “Nature Reviews Molecular Cell Biology” This review discusses the role of stem cell progeny as integral components of stem cell niches, offering feedback that may influence different stem cell systems' microenvironments, but it presents no new research findings.
1 citations
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November 2014 in “British journal of medicine and medical research” This study investigated the inheritance patterns of PCOS and found that 33% of participants had metabolic syndrome, which was more prevalent in first-generation relatives.
November 2025 in “Basic and Clinical Andrology” This systematic review and meta-analysis found that male first-degree relatives of women with PCOS have increased rates of metabolic issues, hormonal imbalances, and androgenic features compared to controls, suggesting a male equivalent of PCOS.
24 citations
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June 2012 in “BMC Research Notes” This study outlines the Human Gene Correlation Analysis tool, which classifies human genes by coexpression levels and identifies overrepresented annotation terms in correlated gene groups, with no new clinical results reported.
July 2026 in “Zenodo (CERN European Organization for Nuclear Research)” This study presents a comprehensive forensic analysis that suggests the original inhabitants of the Americas, today classified as Black Americans, have been systematically reclassified to obscure their genetic heritage and sovereign identity, with evidence showing greater genetic affinity to Paleoamerican specimens than African ancestors.
822 citations
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January 2021 in “Genome biology” This study presents a new method called scMC that effectively distinguishes biological from technical variation in single-cell genomics datasets, demonstrating its ability to accurately align and detect biological signals across various experiments.
9 citations
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March 2018 in “European journal of dermatology/EJD. European journal of dermatology” This study in a Pakistani family identified a novel ST14 gene variant as the likely genetic cause of autosomal recessive ichthyosis with hypotrichosis syndrome.
October 2025 in “Communications Medicine” This study found that using a combination of genotypic and primarily phenotypic reanalysis significantly enhances the accuracy of molecular diagnoses in patients suspected of having monogenic diabetes.
August 2011 in “Reproductive Toxicology” 32 citations
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August 2003 in “Journal of the European Academy of Dermatology and Venereology” This article reviews the clinical aspects and potential mechanisms of chronic graft vs host disease skin manifestations, describing a novel form of premature skin aging, but presents no new research findings.
35 citations
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January 2013 in “The Journal of experimental medicine/The journal of experimental medicine” This study found that deleting the CD98hc protein in mouse skin impairs wound healing and homeostasis, resembling aging effects, due to disrupted integrin signaling pathways.
6 citations
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January 2018 in “International Journal of Trichology” This report describes the first known case of frontal fibrosing alopecia in a genetically unrelated couple, suggesting the potential role of environmental factors in its development.
2 citations
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July 2011 in “AFRICAN JOURNAL OF BIOTECHNOLOGY” This study identified genetic variations in the DSG4 gene among sheep, revealing valuable markers for assessing their impact on wool traits.