Results 141 to 150 of about 1,177,408 (285)

Expanded Phenotype Associated With an Intronic PPP1R12A Variant: A Case Report and Literature Review

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autosomal dominant PPP1R12A‐related genitourinary and/or brain malformation syndrome is a recently described multisystem disorder caused by loss‐of‐function variants in the protein phosphatase 1 regulatory subunit 12a (PPP1R12A) gene. To date, 22 affected individuals have been reported with variable brain malformations and genitourinary ...
Emily M. Bland   +4 more
wiley   +1 more source

PUS7 Deficiency: Phenotypical Expansion of PUS7‐Related Neurodevelopmental Disorders

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Pathogenic variants in PUS7, encoding pseudouridine synthase 7, cause a rare neurodevelopmental disorder marked by intellectual disability, microcephaly, short stature, and behavioral disturbances. Since the first report in 2018, only 16 patients have been described.
Alice Muda   +5 more
wiley   +1 more source

Simulating the Photochemical Birth of the Hydrated Electron in Liquid Water. [PDF]

open access: yesNat Commun
Díaz Mirón G   +6 more
europepmc   +1 more source

Liposomal Delivery of L‐2‐Hydroxyglutarate for Targeting Epigenetic Dysregulation in Osteoarthritis

open access: yesAdvanced NanoBiomed Research, EarlyView.
Osteoarthritis involves cartilage degeneration, inflammation, and epigenetic dysregulation. A liposomal formulation of the TET1 inhibitor L‐2‐hydroxyglutarate to overcome rapid joint clearance was developed. The formulation showed good physicochemical properties, reduced inflammatory and catabolic gene expression in chondrocytes, and alleviated ...
Denise Murgia   +10 more
wiley   +1 more source

Immortalization of Human Adult Alveolar Epithelial Cells to Study Environmental Exposures of the Distal Lung. [PDF]

open access: yesCurr Protoc
Tran E   +11 more
europepmc   +1 more source

Control of Conical Intersection Dynamics in CF<sub>3</sub>I Photodissociation via Halogen Bonding. [PDF]

open access: yesJACS Au
Yan D   +10 more
europepmc   +1 more source

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