Results 121 to 130 of about 67,286 (306)
The Drosophila Inhibitor of Apoptosis (IAP) DIAP2 Is Dispensable for Cell Survival, Required for the Innate Immune Response to Gram-negative Bacterial Infection, and Can Be Negatively Regulated by the Reaper/Hid/Grim Family of IAP-binding Apoptosis Inducers [PDF]
, 2007 Many inhibitor of apoptosis (IAP) family proteins inhibit apoptosis. IAPs contain N-terminal baculovirus IAP repeat domains and a C-terminal RING ubiquitin ligase domain.
Chen, Chun Hong +8 more
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Ein Fall von erworbener und vererbter Ptosis palpebrarum [PDF]
, 1899 Max Münden
openalex +1 more source
Genetic and Structural Variations in Czech Patients With Congenital Myopathies
Clinical Genetics, EarlyView.We present 79 unrelated patients with genetically confirmed congenital myopathy (CM). A total of 113 mutant alleles carrying 97 different variants with a presumed pathogenic effect were identified. All but five variants were small scale. The mode of inheritance was autosomal dominant (AD) (44.3%), autosomal recessive (AR) (43.0%), and X‐linked (XL) (12.
Jana Zídková +26 more
wiley +1 more source
Cases of Syphilitic Affection of the Third Nerve Producing Mydriasis, with and without Ptosis [PDF]
, 1870 V. De Meric
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Expanding the Genetic and Phenotypic Spectrum of POLRMT‐Related Mitochondrial Disease
Clinical Genetics, EarlyView.We identified potentially damaging monoallelic and biallelic POLRMT variants in affected individuals from six unrelated families, thus extending both the clinical and genetic phenotypes of POLRMT‐related mitochondrial disease. ABSTRACT Mitochondrial diseases are a complex group of conditions exhibiting significant phenotypic and genetic heterogeneity ...
Mahmoud R. Fassad +20 more
wiley +1 more source
The blood ptosis test and its use in experimental work in hygiene [PDF]
, 1915 C. Ward Crampton
openalex +1 more source
Clinical Genetics, EarlyView.The proposed updated classification of humeroradial synostosis is based on the molecular pathways of the genes involved: (1) chondrogenesis and osteogenesis; (2) limb development and patterning; (3) genome regulation. Thus, pathologies belonging to the same molecular type may have overlapping clinical phenotypes, helping to structure the diagnostic ...
Fiona Leduc +5 more
wiley +1 more source
Diagnosis and treatment of occipital brain lesions in children
Developmental Medicine &Child Neurology, EarlyView.Occipital brain lesions in children represent a diagnostic challenge due to the large spectrum of etiologies and overlapping clinical features. This review analyses common and less common causes of occipital brain lesions in children, including malformative, vascular, genetic/metabolic, infectious, inflammatory, and neoplastic conditions.
Luca Bartolini +4 more
wiley +1 more source