Results 221 to 230 of about 30,606 (291)

Genotype–Phenotype Correlations of Monoallelic PFIC Variants in Pediatric Liver Disease: A Multicenter Retrospective Cohort Study

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Progressive familial intrahepatic cholestasis (PFIC) is classically caused by biallelic pathogenic variants, yet monoallelic variants of uncertain significance (VUS) in PFIC‐associated genes are increasingly identified in children with cholestasis, creating diagnostic uncertainty.
Brett J. Hoskins   +9 more
wiley   +1 more source

Ancestral functionality and symbiotic refinement of NIN in root nodule symbiosis. [PDF]

open access: yesNat Commun
Liu J   +11 more
europepmc   +1 more source

Exome Sequencing Uncovers Phenotypic and Genotypic Heterogeneity in 196 Indian Families Evaluated for Autoinflammatory Disorders

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autoinflammatory disorders (AIDs) are a clinically heterogeneous group of inborn errors of immunity primarily caused by dysregulation in the innate immune system. Clinical diagnosis is often challenging due to clinical heterogeneity and the overlapping phenotypes with other inborn errors of immunity and monogenic conditions that mimic AIDs ...
Vaishnavi Ashok Badiger   +28 more
wiley   +1 more source

Posthumously Diagnosed Myhre Syndrome Presenting With Pleural Remodeling and Endometrial Cancer

open access: yesAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome (OMIM 139210) is a genetic condition defined by neurodevelopmental disability, characteristic facial features, and multisystem proliferative fibrosis. While various types of lung disease have been reported, pleural remodeling leading to restrictive lung disease has not yet been described.
Jeanette Saffir   +6 more
wiley   +1 more source

Coordination of PTI and ETI in legume-rhizobium mutualism. [PDF]

open access: yesaBIOTECH
Li Y, Shi J, Li X, Wang W, Zhong Y.
europepmc   +1 more source

Ac‐SDKP modulates apoptosis via HSP27 and the FAS/FASL and mitochondrial axes

open access: yesAnimal Models and Experimental Medicine, EarlyView.
Schematic diagram of Ac‐SDKP regulating the FAS/FASL and mitochondrial apoptosis pathways via HSP27. Ac‐SDKP inhibits HSP27 expression, activates the FAS/FASL pathway and Caspase‐3 signaling, increases Caspase‐8 and Caspase‐3 expression, and induces cell apoptosis.
Wenxin Guo   +13 more
wiley   +1 more source

The cytokinin histidine kinase receptors regulate nodulation, shoot and root development in <i>Pisum sativum</i>. [PDF]

open access: yesFront Plant Sci
Velandia K   +11 more
europepmc   +1 more source

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