Results 151 to 160 of about 4,199,245 (250)

A rhesus macaque model of α‐dystroglycanopathy caused by a POMT1 splice altering variant

Animal Models and Experimental Medicine, EarlyView.
Rhesus macaques homozygous for a naturally occurring spice altering variant in the POMT1 gene develop lissencephaly, microphthalmia, and muscular contracture. The presentation models severe presentation of the human Walker‐Warburg syndrome. Abstract Background Biallelic mutations in genes associated with α‐dystroglycan glycosylation manifest in a ...
Anya Nordlund, Brian LaMendola, Nathan P. Crilly, Seth Kittle, Betsy M. Ferguson, Anne D. Lewis, Jeff Wall, Samuel M. Peterson   +7 more
wiley   +1 more source

Familial Hypercholesterolemia. [PDF]

Methodist Debakey Cardiovasc J
Iatan I, Genest J.
europepmc   +1 more source

Nijmegen breakage syndrome: a DNA-double strand breaks repair defective disorder

, 2008
BERARDINELLI F, NOVA SCIENCE PUBLISHERS, IN GENETIC INHERITANCE PATTERNS, ANTOCCIA, Antonio, DI MASI, ALESSANDRA, INC   +5 more
core  

Research on Heat Transfer Enhancement of Spiral Grooved Tube Heat Exchangers Based on CFD and Artificial Intelligence

Asia-Pacific Journal of Chemical Engineering, EarlyView.
ABSTRACT Driven by the energy crisis and carbon neutrality goals, high‐efficiency heat exchange equipment has become a core demand in the industrial sector. The spiral grooved double‐pipe heat exchanger exhibits significant heat transfer enhancement advantages, yet it requires balancing heat transfer efficiency and pressure loss.
Yueyun Yang, Wei Li, Xiuzhi Xi, Neng Gao
wiley   +1 more source

Human evolution and the obstetrical dilemma: The pelvic floor hypothesis

The Anatomical Record, EarlyView.
Abstract Human childbirth is mechanically difficult because a large‐headed, broad‐shouldered fetus must pass through a comparatively narrow, twisted bony birth canal. Traditional explanations of this “obstetrical dilemma” emphasize the role of bipedal locomotion in inhibiting the evolution of a wider, more spacious pelvis.
Barbara Fischer, Ekaterina Stansfield
wiley   +1 more source

Engineering Biology Beyond Single Genes: Advances and Challenges in Multiplex Genome Editing

Animal Research and One Health, EarlyView.
Multiplex genome editing is transforming genome engineering from single‐gene perturbation to network‐level control, yet its broader application remains limited by challenges in gRNA array engineering, delivery technologies, and safety management. Emerging AI‐driven approaches are accelerating guide RNA design and CRISPR effector optimization for ...
Linli Wang, Yongbin Liu, Hongbing Han
wiley   +1 more source

Discovery of Causative Genetic Variants in Patients with Congenital and/or Developmental Anomalies by Exome Sequencing. [PDF]

Genes (Basel)
Theodosiou A, Kousoulidou L, Papaevripidou I, Aristidou C, Alexandrou A, Hadjipanteli A, Votsi C, Tomazou M, Menelaou S, Efstathiou D, Ioannou Y, Athanasiou E, Papamichael E, Christophidou-Anastasiadou V, Ourani S, Evangelidou P, Tanteles GA, Sismani C.   +17 more
europepmc   +1 more source

A survey on the teaching of introductory nervous system content in undergraduate courses

Anatomical Sciences Education, EarlyView.
Abstract Teaching introductory or foundation level concepts about anatomy and physiology of the nervous system to undergraduate students presents a conundrum for educators—how to provide students with sufficient knowledge for a successful learning experience and outcome without overwhelming students and impacting student progression and retention.
Gabrielle Todd, Revecca Kakavanos‐Plew, Kay L. Double   +2 more
wiley   +1 more source

Characterization of Ocular Developmental Disorders in the Israeli Population: Genotype-Phenotype Correlations and Novel Candidate Genes. [PDF]

Biomolecules
Rabinovich Y, Vardizer Y, Pincovich S, Wolowelsky M, Kulyamzin S, Ehrenberg M, Zayit-Soudry S, Man Peles I, Leibu R, Goldenberg-Cohen N, Ben-Yosef T.   +10 more
europepmc   +1 more source

Clinical and Genetic Factors Associated With Regression in Children With Autism Spectrum Disorders

Autism Research, EarlyView.
ABSTRACT Autism spectrum disorder (ASD) is a heterogeneous neurodevelopmental condition with complex genetic and environmental underpinnings. A clinically significant subset of children with ASD experience developmental regression (regASD), characterized by the acute loss of previously acquired skills. The mechanisms, predictors, and molecular basis of
Anna Maruani, Emma Delclaud, Paul Bruzeau, Richard Delorme, Anne‐Claude Tabet, Valérie Vantalon, Jonathan Levy, Pierre Ellul   +7 more
wiley   +1 more source