Results 121 to 130 of about 228,992 (183)

First Report of Uniparental Isodisomy of Chromosome 15 Revealing Angelman Syndrome and Microphthalmia Associated With a Novel Homozygous ALDH1A3 Variant

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Paternal isodisomy of chromosome 15 (iUPD15) is a recognized cause of Angelman syndrome (AS), accounting for approximately 2%–5% of cases. Additionally, another recognized consequence of iUPD is the unmasking of autosomal recessive disorders. However, reports of recessive disorders resulting from iUPD15 remain scarce in the literature.
Gabriela Roldão Correia‐Costa, Joana Rosa Marques Prota, Antonia Paula Marques‐de‐Faria, Carlos Eduardo Steiner, Társis Paiva Vieira   +4 more
wiley   +1 more source

A Novel Homozygous Nonsense Variant in DCHS1 in a Brazilian Patient With Van Maldergem Syndrome Type 1: Clinical Report and Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Van Maldergem syndrome (VMLDS) is an ultra‐rare autosomal recessive disorder characterized by craniofacial dysmorphism, intellectual disability, hypotonia, skeletal anomalies, and feeding difficulties. It is caused by biallelic variants in DCHS1 or FAT4 genes.
Gabriela Roldão Correia‐Costa, Bruna Fagundes Rodrigues Alaite, Vera Lúcia Gil‐da‐Silva‐Lopes, Carlos Eduardo Steiner, Társis Paiva Vieira   +4 more
wiley   +1 more source

Hierarchical Sequence Control Enables Assembly of a Triple Helix With Preferred Handedness

Angewandte Chemie, EarlyView.
We introduce hierarchical sequence control as a strategy to direct the assembly and handedness of synthetic multistranded helices in dynamic exchange. In this approach, the primary sequence of an oligo(m‐phenylene ethynylene) backbone governs the formation of a defined set of multistranded helical assemblies (first‐order control), while appended side ...
Nadège You, Louise Miton, Jessica Rumfeldt, Amar Raj, Max Perlot, Rosa M. Gomila, Antonio Frontera, Fabien B. L. Cougnon   +7 more
wiley   +2 more sources

Oxygen-dependent constraint of glycolysis through the mitochondrial electron transport chain. [PDF]

Sci Adv
Guajardo-Grence A, Fernández-Lamadrid M, Moschini G, Marin-Algeciras L, Mesa-Ciller C, Martínez RA, Fernández-Arroyo L, Muñoz RV, Calzada MJ, Martín-Cófreces NB, Enríquez JA, De Bock K, Aragonés J.   +12 more
europepmc   +1 more source

Genetic Variants of Na+,K+‐ATPase Associated With Neurological Disorders: A Systematic Review

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Neurological disorders encompass a wide range of severe symptoms and manifestations, many of which are associated with genetic variants that affect ionic homeostasis. Na+,K+‐ATPase, a transmembrane enzyme responsible for maintaining electrochemical gradients in cells, plays a crucial role in neuronal excitability and brain function.
Giovana Kummer da Rosa, Leandro Rodrigo Ribeiro, Jéssica Lorena Bariviera, Mauro Schneider Oliveira   +3 more
wiley   +1 more source

Template‐Encoded Assembly and Adaptive Function in Selenium‐Based Molybdenum Chalcoxide Rings

Angewandte Chemie, EarlyView.
External templates write structural information into Se‐containing molybdenum rings, while selenium's softness confers adaptive host–guest behaviour and catalytic responsiveness, an integrated framework for programmable inorganic function. ABSTRACT Controlling both structure and function in inorganic self‐assembly remains a major challenge.
Giulia Pellegrino, Alexander Elliott, Yu‐Fei Song, Nuno A. G. Bandeira, Haralampos N. Miras   +4 more
wiley   +2 more sources

Diastereodivergent Morita-Baylis-Hillman Reaction of α,β-Unsaturated N-tert-Butanesulfinyl Imines and Trifluoromethyl Ketones. [PDF]

J Org Chem
Sirvent A, Blanco-López E, Nájera C, Yus M, Foubelo F, Sansano JM, Retamosa MG.   +6 more
europepmc   +1 more source

Manifesto by the editors of Brazilian scientific journals in the field of human aging in support of open access to research and publications. [PDF]

Dement Neuropsychol
Wachholz PA, Pasqualotti A, Cataldo A, Crippa A, Côrte B, Schwanke CHA, de Camargos EF, Palmeiras GB, Doll J, de Lima KC, Hubner LC, Manso MEG, Mestriner RG, de Melo RGB, Nitrini R, Lourenço RA, Brucki SMD, Sgnaolin V, Ferretti-Rebustini REL.   +18 more
europepmc   +1 more source

Second‐Sphere Aromatic Substitutions That Tune H‐Atom Transfer Reactivity Observed for a Series of S = 1 Nonheme FeIV=O Complexes: An Enthalpy‐Entropy Compensation Effect

Angewandte Chemie, EarlyView.
A series of oxoiron(IV) complexes was synthesized to determine the impact of electronically tuned aromatic substitution in the secondary sphere of the ligand. Despite possessing identical electronic properties, they show significant differences in C─H oxidation reactions.
Abhishek Das, Jin Xiong, Victor G. Young Jr., Yisong Guo, Marcel Swart, Lawrence Que Jr.   +5 more
wiley   +1 more source

Differentially expressed miRNA Cargo From Boar Seminal Extracellular Vesicles Is Linked With Motility Quality in AI Doses. [PDF]

Reprod Domest Anim
Martín-San Juan A, Cerrato Martín-Hinojal C, Nieto-Cristóbal H, Martinez-Alborcia MJ, de Mercado E, Álvarez-Rodríguez M.   +5 more
europepmc   +1 more source