Results 141 to 150 of about 24,699 (216)

Clinical, Behavioral and Neuroradiological Phenotype in an Italian Cohort of Patients With Xia Gibbs Syndrome: A Multicenter Cross‐Sectional Study and Systematic Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Heterozygous variants in the AHDC1 gene are associated with Xia Gibbs Syndrome (XGS), a genetic disorder with a highly variable phenotype. Cognitive impairment, motor delay, language delay, neonatal hypotonia, and sleep apnea are considered “cardinal” signs of the disease.
Giulia Cinelli, Stefania Della Vecchia, Patrizia Bergonzini, Elisa Caramaschi, Elisabetta Spezia, Claudia Parenti, Simona Filomena Madeo, Laura Lucaccioni, Cavalleri Francesca, Marisa Pugliese, Federico Raviglione, Clara Colonna, Olga Calabrese, Ilaria Stanghellini, Maria Carmen Marongiu, Enrico Biagioni, Anna Rita Ferrari, Roberta Battini, Lorenzo Iughetti   +18 more
wiley   +1 more source

Anomalous Diffusion in Inverted Variable-Lengthscale Fluorescence Correlation Spectroscopy. [PDF]

Biophys J, 2019
Stolle MDN, Fradin C.
europepmc   +1 more source

Defining Features of Gabriele‐de Vries Syndrome in Adults: A Case Report and Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Gabriele‐de Vries syndrome (GADEVS) is a neurodevelopmental disorder caused by heterozygous pathogenic variants in the YY1 gene. Like most rare genetic syndromes, the adult manifestations of GADEVS remain poorly defined. Here, we describe the oldest patient reported to date with GADEVS—a 63‐year‐old woman with a c.1177_1179del YY1 variant ...
Ethan W. Hollingsworth, Changrui Xiao
wiley   +1 more source

Ferritin Iron Mineralisation: Route of Fe3+ Transfer From the Ferroxidase Centre to the Inner Cavity of Human H‐Chain Ferritin

Angewandte Chemie, EarlyView.
Proposed mechanism for Fe3+ transport from the FoC (sites 1 and 2) of human H‐chain ferritin following oxidation of the di‐Fe2+ form. Glu61, aided by the flexibility of its sidechain, plays a key role in coordinating Fe3+ at three sites (3, 4 and 5) that mark out the transit route.
Zinnia Bugg, Justin M. Bradley, Andrew M. Hemmings, Nick E. Le Brun   +3 more
wiley   +2 more sources

Urea-mediated anomalous diffusion in supported lipid bilayers. [PDF]

Interface Focus, 2018
Weatherill EE, Coker HLE, Cheetham MR, Wallace MI.   +3 more
europepmc   +1 more source

Distinct Neuropsychiatric Profiles Associated With 17p11.2 Deletions and RAI1 Variants in Smith–Magenis Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Smith–Magenis syndrome (SMS) results from either a recurrent 17p11.2 deletion or pathogenic variants in the retinoic acid induced 1 gene (RAI1). While neurodevelopmental impairment and behavioral dysregulation are well recognized, systematic genotype‐stratified analyses across psychiatric domains remain limited.
Albin Blanc, Christophe Nemos, Céline Bonnet, Mathilde Renaud, Sandra Chapuis, Pauline Boiroux, Marie‐Noëlle Babinet, Caroline Demily   +7 more
wiley   +1 more source

Flame‐Retardant Quasi‐Solid‐State Electrolytes From Self‐Assembled Azolate Hybrid Frameworks for Highly Safe Lithium Batteries

Angewandte Chemie, EarlyView.
This work develops a spray‐assisted in situ assembly technique to construct AHF materials with nitrogen/oxygen‐regulated one‐dimensional channels on glass fiber, providing abundant active sites and enabling rapid transport for lithium ions. Subsequently, phosphate flame retardants are encapsulated via in situ polymerization, resulting in a thermally ...
Shun Wang, Qimin Zhu, Yuanyuan Tian, Peiyu Cui, Qing Ji, Tian Xie, Hong Wang, Dong Zhou, Guoxiu Wang, Wenhuan Huang   +9 more
wiley   +2 more sources

Severe ADEM‐Like Neuroinflammatory Disease and Cerebrovascular Fragility With Recurrent Pseudoaneurysms and Moyamoya in a Familial Germline CBL Mutation: Expanding the Clinical Phenotype

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Heterozygous germline variants in CBL disrupt its function as a negative regulator of the Ras/MAPK pathway, classically predisposing to Juvenile myelomonocytic leukemia (JMML) and moyamoya. We describe two affected siblings carrying a paternally inherited CBL variant (c.1210 T> C, p.
Michal Bar‐Hakim, Anat Abramovich, Sara Via‐Dorembus, Gali Heimer, Bruria Ben‐Zeev, Etai Adam, Assaf A. Barg, Jonathan Roth, Basheer Sheick‐Yousif, Rony Beeri Berkowiz, Michal Feldon, Haim Bassan, Moran Hausman‐Kedem   +12 more
wiley   +1 more source

Online Gambling of Pure Chance: Wager Distribution, Risk Attitude, and Anomalous Diffusion. [PDF]

Sci Rep, 2019
Wang X, Pleimling M.
europepmc   +1 more source

Tensile Stimulation in Biorelevant Culture Conditions Enhances MSC and TPSC Tenogenesis on Aligned Electrospun Scaffolds

Advanced NanoBiomed Research, EarlyView.
Biomimetic electrospun scaffold incorporating GDF‐7‐loaded mesoporous silica nanoparticles, combined with mechanical stimulation and physiological oxygen tension, guides tenogenic differentiation of mesenchymal stromal cell and tendon progenitor stem cell. This integrated approach enhances cell proliferation, matrix deposition, and tendon‐specific gene
Vera Citro, Aldo R. Boccaccini, Nicholas R. Forsyth, Tina P. Dale   +3 more
wiley   +1 more source