Results 91 to 100 of about 88,145 (306)

Functional Analysis of Ligand‐Gated Chloride Channels in a Cnidarian Sheds Light on the Evolution of Inhibitory Signaling

open access: yesAdvanced Science, EarlyView.
We uncover a large variety of putative inhibitory ligand‐gated ion channels (LGICs) in the phylum Cnidaria, the sister group to all bilaterian animals. Phylogenetic analysis suggests a complex evolutionary history of inhibitory LGICs with diverse neurotransmitter ligands.
Abhilasha Ojha   +13 more
wiley   +1 more source

Molecular cytogenetic characterization of mosaicism for a small supernumerary marker chromosome derived from chromosome 8 or r(8)(::p11.22→q11.21::) in an 18-year-old female with short stature, obesity, attention deficit hyperactivity disorder, and intellectual disability

open access: yesTaiwanese Journal of Obstetrics & Gynecology, 2016
Objective: We present molecular cytogenetic characterization of mosaicism for a small supernumerary marker chromosome (sSMC) derived from chromosome 8.
Chih-Ping Chen   +8 more
doaj   +1 more source

Clinical utility of array comparative genomic hybridisation for prenatal diagnosis: a cohort study of 3171 pregnancies

open access: yes, 2017
Objective To evaluate the clinical value of prenatal array comparative genomic hybridisation (CGH) in screening for submicroscopic genomic imbalances. ;Design Cross-sectional study. ;Setting Tertiary referral centre.
Lee, C-N;Lin, S-Y;Lin, C-H;Shih, J-C;Lin, T-H;Su, Y-N   +1 more
core   +1 more source

Mechanostimulatory Cues Determine Intestinal Fibroblast Fate and Profibrotic Remodeling in a Physiodynamic Human Gut‐on‐a‐Chip

open access: yesAdvanced Science, EarlyView.
A healthy gut barrier shields underlying fibroblasts from luminal shear forces, illustrating that “good fences make good neighbors.” Barrier damage exposes fibroblasts to shear stress, inducing cell death and the emergence of stress‐adapted, profibrotic fibroblasts. Sustained shear exposure promotes the formation of stiff aggregates of mechanoadapative
Soyoun Min   +6 more
wiley   +1 more source

Phenotypic features of a microdeletion in chromosome band 20p13: A case report and review of the literature

open access: yesMolecular Genetics & Genomic Medicine, 2019
Background 20p13 microdeletion syndrome has been reported to be associated with developmental delays, intellectual disability, epilepsy, and unspecific dysmorphic characteristics.
Hung‐Hsiang Fang   +5 more
doaj   +1 more source

Copy Number Variants in Epileptic Encephalopathy

open access: yesPediatric Neurology Briefs, 2012
An international group of investigators at University of Washington, Seattle, USA, and various centers in Australia, New Zealand, Canada, and Israel evaluated 315 patients with epileptic encephalopathies for rare copy number variants (CNVs) using a whole-
J Gordon Millichap
doaj   +1 more source

Array-Based Comparative Genomic Hybridization (aCGH).

open access: yes, 2016
Copy number variations (CNVs) in the genomes have been suggested to play important roles in human evolution, genetic diversity, and disease susceptibility.
Chengsheng Zhang   +7 more
core   +1 more source

A Rare Allele of ST5 From Wild Rice Enhances Salt Tolerance in Rice

open access: yesAdvanced Science, EarlyView.
A novel salt‐tolerance gene ST5W, characterized by a unique 36‐bp promoter insertion, is found exclusively in a small subset of Oryza rufipogon and is absent in cultivated rice. Field trials confirm ST5W significantly enhances rice yield across diverse genetic backgrounds under saline conditions.
Meng Xing   +26 more
wiley   +1 more source

Blastomatoid pulmonary carcinosarcoma: report of a case with a review of the literature

open access: yesBMC Cancer, 2012
Background Pulmonary carcinosarcoma is a biphasic tumour with an unfavourable prognosis. The differential diagnosis includes pulmonary blastoma and is often challenging.
Schaefer Inga-Marie   +4 more
doaj   +1 more source

Targeting the PDK1/c‐Myc/SOX10 Signaling in Oligodendrocytes Alleviates Neuropathic Pain

open access: yesAdvanced Science, EarlyView.
This work reveals that oligodendrocyte homeostasis, mediated by PDK1, is a critical determinant of neuropathic pain (NPP) pathogenesis. Disruption of PDK1 in oligodendrocytes impairs SOX10‐dependent myelination programs through c‐Myc accumulation, leading to disrupted myelination and the pathophysiology of NPP.
Pingping Qiao   +7 more
wiley   +1 more source

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