Results 161 to 170 of about 11,679 (258)

Asking the 5 W's for designing next‐generation bioprocessing

open access: yesAIChE Journal, EarlyView.
Abstract Biotechnology is expanding beyond traditional, centralized fermentation and toward next‐generation bioprocessing paradigms that emphasize flexible deployment outside the laboratory with application‐specific performance. However, many bioprocesses fail to translate beyond proof‐of‐concept into industrially viable systems because early design ...
Sangdo Yook   +4 more
wiley   +1 more source

The complete genome sequence and comparative genome analysis of the high pathogenicity Yersinia enterocolitica strain 8081

open access: yes, 2014
This work was supported by The Wellcome Trust.The human enteropathogen, Yersinia enterocolitica, is a significant link in the range of Yersinia pathologies extending from mild gastroenteritis to bubonic plague.
Maddison, Mark   +21 more
core   +1 more source

De Novo Complex Genomic Rearrangement Spanning 2q31.1 in a Proband With Congenital Malformations: Genotype–Phenotype Correlation and Development of a CGR Detection Pipeline

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The 2q31 region is commonly associated with pathogenic alleles of the HOXD cluster leading to various clinical phenotypes related to skeletal development. We present a proband with tetralogy of Fallot and multiple congenital anomalies. Genomic variant screening including an in‐house CGR detection pipeline pairing genome sequencing (GS ...
Katherine Helle   +10 more
wiley   +1 more source

Unraveling a Diagnostic Enigma: A TECPR2 Case Solved Through Multi‐Omic Genomics

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT TECPR2 is a key regulator of autophagy, encoded by the TECPR2 gene. Pathogenic variants in this gene have been linked to a rare hereditary sensory and autonomic neuropathy with intellectual disability (HSAN9). We report a teenage female with a syndromic intellectual disability disorder associated with neuromuscular abnormalities.
Teresa Zhao   +122 more
wiley   +1 more source

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

Genetic Diversity, Adaptation, Wild Introgression, and Coat Color Mutation of Golden Yak

open access: yesAnimal Research and One Health, EarlyView.
Genetic diversity, adaptation, wild introgression, and coat color mutation of golden yak from two populations on the Qinghai‐Xizang Plateau. ABSTRACT The golden yak lives on the Qinghai‐Xizang Plateau with a golden coat and adapts to high altitudes and strong ultraviolet environment. The golden coat is a prominent phenotype in many domesticated species,
Huixuan Yan   +15 more
wiley   +1 more source

T Cell Plasticity in Systemic Lupus Erythematosus Revealed by Large‐Scale T Cell Receptor Repertoire and Transcriptome Studies

open access: yesArthritis &Rheumatology, EarlyView.
Objective We aimed to characterize CD4+ T cell plasticity in human systemic lupus erythematosus (SLE) by leveraging T cell receptor (TCR) repertoire features as markers of prior lineage states, integrating TCR and transcriptomic profiling to delineate plasticity patterns and evaluate their association with clinical disease activity. Methods We used TCR
Yasuo Nagafuchi   +11 more
wiley   +1 more source

The Nuclear Receptor Testicular Receptor 4 Orchestrates Cytoskeletal Organization in a G Protein Subunit Alpha 12/Rho‐Associated Protein Kinase–Dependent Manner to Promote Myofibroblast Differentiation and Tissue Fibrosis in Systemic Sclerosis

open access: yesArthritis &Rheumatology, EarlyView.
Objective Members of the superfamily of nuclear receptors have been implicated in inflammatory processes and pathologic tissue remodeling and have emerged as attractive targets for pharmaceutical intervention. However, the role of testicular receptor 4 (TR4; or Nr2c2) in fibroblast activation and rheumatologic diseases has not yet been investigated ...
Yun Zhang   +16 more
wiley   +1 more source

Microtopography enhances intestinal drug absorption via Piezo1‐mediated tight junction modulation

open access: yesBMEMat, EarlyView.
Microtopography‐driven enhancement of oral peptide drug delivery by activating Piezo1 channels significantly improves paracellular permeability and bioavailability, offering a novel approach for optimizing macromolecule absorption in pharmaceutical formulations.
Yu Hu   +12 more
wiley   +1 more source

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