Results 41 to 50 of about 157,517 (293)
Advanced Science, EarlyView.Different from mitosis, the female meiosis undergoes asymmetric division that produces haploid oocytes and polar body, which is essential for retaining maternal components to support subsequent fertilization and embryo development. However, the underlying mechanisms are still largely unknown.
Yu Li +6 more
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Autosomal Dominant Partial Epilepsy with Auditory Features
Pediatric Neurology Briefs, 2009 Auditory and language processing in 17 subjects with autosomal dominant partial epilepsy with auditory features (ADPEAF) was investigated by MRI, fMRI, and MEG and compared to 26 controls, in a study at Columbia University, New York.
J Gordon Millichap
doaj +1 more source
EFTUD2 Regulates Cortical Morphogenesis via Modulation of Caspase‐3 and Aifm1 Splicing Pathways
Advanced Science, EarlyView.EFTUD2, a spliceosomal GTPase linked to MFDM, regulates cortical development through apoptotic control. Conditional Eftud2 knockout in murine neural stem cells induces microcephaly and cortical disorganization, while pathogenic variants drive neuronal loss.
Liping Chen +12 more
wiley +1 more source
An autosomal dominant optic atrophy: Kjer type [PDF]
Revista Brasileira de OftalmologiaWe present a case of an autosomal dominant optic neuropathy, known as Kjer's disease. The condition can manifest since childhood, presenting with bilateral symmetric optic atrophy and progressive vision loss.
Flavio Mac Cord Medina +1 more
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Advanced Science, EarlyView.Three PtIV prodrugs MRP, DRP, and HRP are designed to induce pyroptosis in low GSDME‐expressing tumor cells via the Caspase‐3/GSDME pathway. By relaxing chromatin and reactivating GSDME, HRP can effectively induce pyroptosis, enhance pro‐inflammatory cytokine production, and exhibit potent antitumor effects.
Xinda Yang +10 more
wiley +1 more source
Autosomal-dominant osteopetrosis: An incidental finding
Indian Journal of Dental Research, 2010 Osteopetrosis is a descriptive term that refers to a group of rare, heritable disorders of the skeleton. Osteopetrotic conditions vary greatly in their presentation and severity, from just as an incidental finding on radiographs to causing life ...
Rajathi Maria +4 more
doaj
BRD4 Signaling Maintains the Differentiated State of β Cells
Advanced Science, EarlyView.The comprehensive exploration revealed the critical role of BRD4 in β cells. BRD4 plays a fundamental role in maintaining β cell differentiation because both long‐term and acute BRD4 deficiency result in a reduction in insulin secretion and downregulation of differentiation markers.
Fuqiang Liu +22 more
wiley +1 more source
Autosomal dominant pseudoxanthoma elasticum [PDF]
Journal of Medical Genetics, 1974 Two families are described, each with a unique clinical variant of pseudoxanthoma elasticum (PXE) inherited in autosomal dominant fashion. Dominant type I PXE is characterized by a classical flexurally distributed rash, severe and frequent angina of effort, intermittent claudication and hypertension, and a very severe choroidoretinitis, often ...
openaire +3 more sources
American Journal of Hematology, EarlyView.ABSTRACT Hereditary hemorrhagic telangiectasia (HHT, Osler‐Weber‐Rendu disease) is the second most common inherited bleeding disorder worldwide, affecting approximately 1 in 5000 people. Development of disease‐modifying and efficacious hemostatic agents to treat HHT has finally begun after decades without such medical therapies.
Hanny Al‐Samkari +22 more
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American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Genitopatellar syndrome (GPS) and Say‐Barber‐Biesecker‐Young‐Simpson Syndrome (SBBYSS) are clinically distinct neurodevelopmental disorders caused by monoallelic pathogenic variants in KAT6B. In some cases, GPS and SBBYSS features can overlap, determining an intermediate phenotype.
Vittorio Maglione +12 more
wiley +1 more source