Results 81 to 90 of about 1,740,047 (309)

Molecular Clustering of Metabolic Dysfunction-Associated Steatotic Liver Disease Based on Transcriptome Analysis

Diagnostics
Background: Metabolic dysfunction-associated steatotic liver disease (MASLD) is a complex metabolic disorder with a diverse spectrum. This study aimed to classify patients with MASLD into molecular subtypes based on the underlying pathophysiology ...
Gina Ryu, Eileen Laurel Yoon, Wankyu Kim, Dae Won Jun   +3 more
doaj   +1 more source

Sequence-Based Mapping and Genome Editing Reveal Mutations in Stickleback Hps5 Cause Oculocutaneous Albinism and the casper Phenotype. [PDF]

, 2017
Here, we present and characterize the spontaneous X-linked recessive mutation casper, which causes oculocutaneous albinism in threespine sticklebacks (Gasterosteus aculeatus).
Hart, James C, Miller, Craig T
core   +2 more sources

Diversity and complexity in neural organoids

FEBS Letters, EarlyView.
Neural organoid research aims to expand genetic diversity on one side and increase tissue complexity on the other. Chimeroids integrate multiple donor genomes within single organoids. Self‐organising multi‐identity organoids, exogenous cell seeding, or enforced assembly of region‐specific organoids contribute to tissue complexity.
Ilaria Chiaradia, Madeline A. Lancaster
wiley   +1 more source

Adaptive evolution of molecular phenotypes

Journal of Statistical Mechanics: Theory and Experiment, 2014
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Held, Torsten, Nourmohammad, Armita, Lässig, Michael   +2 more
openaire   +3 more sources

Molecular Defects Underlying the Kell Null Phenotype [PDF]

Journal of Biological Chemistry, 2001
Expression of the Kell blood group system is dependent on two proteins, Kell and XK, that are linked by a single disulfide bond. Kell, a type II membrane glycoprotein, is a zinc endopeptidase, while XK, which has 10 transmembrane domains, is a putative membrane transporter.
S, Lee, D C, Russo, A P, Reiner, J H, Lee, M Y, Sy, M J, Telen, W J, Judd, P, Simon, M J, Rodrigues, T, Chabert, J, Poole, S, Jovanovic-Srzentic, C, Levene, V, Yahalom, C M, Redman   +14 more
openaire   +2 more sources

Linking neurogenesis, oligodendrogenesis, and myelination defects to neurodevelopmental disruption in primary mitochondrial disorders

FEBS Letters, EarlyView.
Mitochondrial remodeling shapes neural and glial lineage progression by matching metabolic supply with demand. Elevated OXPHOS supports differentiation and myelin formation, while myelin compaction lowers mitochondrial dependence, revealing mitochondria as key drivers of developmental energy adaptation.
Sahitya Ranjan Biswas, Porter L. Tomsick, Alicia M. Pickrell, Paul D. Morton   +3 more
wiley   +1 more source

A method for estimating coherence of molecular mechanisms in major human disease and traits

BMC Bioinformatics, 2020
Background Phenotypes such as height and intelligence, are thought to be a product of the collective effects of multiple phenotype-associated genes and interactions among their protein products.
Mikhail G. Dozmorov, Kellen G. Cresswell, Silviu-Alin Bacanu, Carl Craver, Mark Reimers, Kenneth S. Kendler   +5 more
doaj   +1 more source

An isoform of 14‐3‐3 protein regulates transbilayer lipid movement at the plasma membrane

FEBS Letters, EarlyView.
Loss of 14‐3‐3ζ in CHO cells confers resistance to exogenous phosphatidylserine (PS) and impairs endocytosis‐independent inward flip‐flop of fluorescent PS at the plasma membrane. RNAi‐mediated knockdown reproduces this defect, while no additive effect is seen in ATP11C‐deficient cells.
Akiko Yamaji‐Hasegawa, Akira Hattori, Masafumi Tsujimoto, Toshihide Kobayashi   +3 more
wiley   +1 more source

Thalassemia intermedia phenotype resulting from rare combination of c.46delT [Codon15 (‐T)] mutation of beta globin gene and HPFH3

Clinical Case Reports, 2017
Key Clinical Message The beta thalassemia intermedia phenotype has several genotypes. Hematological and molecular diagnostic approach and logical and sequential conduct of various investigations are necessary for the diagnosis of these disorders.
Anjali J. Kelkar, Anu Moses
doaj   +1 more source

Very Early In-Utero Diagnosis of Walker-Warburg Phenotype: The Cutting Edge of Technology

Ultrasound International Open, 2016
Background: Walker-Warburg phenotype is a severe and lethal autosomal recessive disorder, belonging to a group of congenital malformations defined as abnormal pial basement membrane formation.
R. Achiron, E. Katorza, H. Reznik-Wolf, E. Pras, D. Kidron, M. Berkenstadtt   +5 more
doaj   +1 more source