Results 111 to 120 of about 6,404,071 (300)

Milestone Attainment in Young Children With Arthrogryposis Multiplex Congenita: Developmental Profile and Associated Factors

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Evidence on developmental milestones in children with arthrogryposis multiplex congenita (AMC) under the age of five is scarce. This multisite cross‐sectional study described developmental status and examined factors associated with milestone attainment in 143 children aged 0–66 months from a pediatric AMC Registry.
Ahlam Zidan, Sophia C. Pasia, Emmanouil Rampakakis, Reggie Hamdy, Frank Rauch, Lauren C. Hyer, Joel Lerman, Haluk Altiok, Krister Freese, Cary Mielke, Sarah B. Nossov, Philip F. Giampietro, Thania Ordaz‐Robles, Noémi Dahan‐Oliel   +13 more
wiley   +1 more source

Targeted CRISPR screens reveal genes essential for Cryptosporidium survival in the host intestine

Nature Communications
The Cryptosporidium parasite is one of the leading causes of diarrheal morbidity and mortality in children, and adolescent infections are associated with chronic malnutrition.
Lucy C. Watson, Katarzyna A. Sala, Netanya Bernitz, Lotta Baumgärtel, Mitchell A. Pallett, N. Bishara Marzook, Lorian Cobra Straker, Duo Peng, Lucy Collinson, Adam Sateriale   +9 more
doaj   +1 more source

Spectrum of Congenital Anomalies in Myhre Syndrome—Insights Into Effects Brought by Altered TGF‐β Signaling via Gain‐of‐Function Variants in SMAD4

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is a rare genetic disorder characterized by progressive multisystem involvement. Gain‐of‐function missense heterozygous variants affecting the Ile500 residue and Arg496 residue of the SMAD4 gene are implicated in this condition.
Kawmadi Gunawardena, Alessandro De Falco, Deborah Osio, Eleanor Sherlock, Emma Kivuva, Erina Sasaki, Francis H. Sansbury, Nayana Lahiri, Patricia Foley, Sahar Mansour, Shane McKee, Tazeen Ashraf, Nicola Brunetti‐Pierri, Usha Kini   +13 more
wiley   +1 more source

A Cholesterol Analogue for Cell‐Surface Enzyme Display

Angewandte Chemie, EarlyView.
We report a non‐genetic strategy for bacterial cell surface enzyme immobilisation using cholesterol‐based artificial lipids containing Ni2+‐NTA binding groups that can integrate into biological membranes. The engineered cells can capture His‐tagged enzymes directly from cell lysates while preserving intracellular and surface activity, allowing for ...
Vasco F. Batista, Nele Van Wyngaerden, Changzhu Wu, Frank Glorius   +3 more
wiley   +2 more sources

A Novel Splice Variant in ERGIC1 Causes Arthrogryposis Multiplex Congenita—Characterization Using Urine‐Derived Cells

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis multiplex congenita (AMC) is defined as the presence of joint contractures affecting at least two body regions at birth. Three different ERGIC1 variants have been reported in individuals with AMC. Here, we report on a 16‐year‐old male with a homozygous ERGIC1 c.250+1G>A variant that was classified as a variant of uncertain ...
Lauren Kerr, Paul McKay, Juliana Marulanda, Zenghui Wu, Reggie Hamdy, Sena Tavukcu, Noémi Dahan‐Oliel, Frank Rauch   +7 more
wiley   +1 more source

Enzyme‐Like Synthetic Cleft for Light‐Driven Water‐Oxidation Catalysis Via an Oxide Relay Pathway

Angewandte Chemie, EarlyView.
A carboxylic acid group introduced into the second coordination sphere of a Ru(bda) water oxidation catalyst forms a defined hydrogen bond within the catalytic cleft. This interaction locks the group in place and enables an intramolecular oxide relay pathway between Ru(V)═O and the carboxylate group, providing a distinct and efficient route for O─O ...
Daniel A. P. Friedewald, Gourab Das, Philipp H. Kirchner, Olga Anhalt, Deqi Tang, Sandra Luber, Florian Beuerle, Frank Würthner   +7 more
wiley   +2 more sources

Nothing to See Here: Researching Non‐Recent Child Abuse in Schools and the Politics of Silence

Australian Journal of Social Issues, EarlyView.
ABSTRACT While institutions, including schools, have responsibilities to protect children from harm, responses to instances of child sexual abuse have often exhibited avoidance and denial. Recent public inquiries in Australia revealed that some institutions, particularly in the Catholic sector, employed a deliberate strategy of silence which was used ...
John Crowley, Katie Wright, Kate O'Connor   +2 more
wiley   +1 more source

π‐Radical Cascades to Peri‐Fused Triangulene Dimers

Angewandte Chemie, EarlyView.
We demonstrate the potential of open‐shell molecular graphene fragments as synthons for constructing graphene nanostructures via π‐radical cascades. By identifying monoradical intermediates as key selectivity‐determining species and tuning steric effects in a triangulene precursor, we show that reactivity in a formally diradical system can be ...
Paula L. Widmer, Leoš Valenta, Maximilian Mayländer, Jules Hutter, Francis J. Carta, Simon Jurt, Olivier Blacque, Laurent Bigler, Sabine Richert, Tomáš Šolomek, Michal Juríček   +10 more
wiley   +2 more sources

A high‐fat diet with vitamin D and propylthiouracil produces a pro‐atherogenic phenotype in rats

Animal Models and Experimental Medicine, EarlyView.
Male Sprague–Dawley rats received a cholesterol‐rich high‐fat diet supplemented with vitamin D and propylthiouracil for 11 weeks. The model induced dyslipidemia (increased total cholesterol/low‐density lipoprotein, decreased triglycerides), inflammation (increased interleukin‐6 and serum amyloid A), hypercalcemia, and reduced circulating endothelial ...
Angélique Lewies, Vitaris Kodogo, Johannes Frederik Wentzel, Francis Edwin Smit   +3 more
wiley   +1 more source

Chelator‐Free Radiometal Labeling Inside Engineered Affibodies

Angewandte Chemie, EarlyView.
Affibodies are compact and robust three‑helix binders used in imaging and therapy. Engineering a triple‑cysteine motif into their core enables chelator‑free binding of important radiometals, like Bi(III), Pb(II), In(III), and Ga(III) with rapid uptake and exceptional stability.
Lani J. Davies, Upamali Somathilake, Santhanalaxmi Kumaresan, Frank Bruchertseifer, Alfred Morgenstern, Sarah Spreckelmeyer, Christoph Nitsche   +6 more
wiley   +2 more sources