Results 111 to 120 of about 9,503 (262)

A Case of Multiple Mitochondrial Dysfunctions Syndrome 1 and Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Multiple mitochondrial dysfunctions syndrome 1 (MMDS1, MIM #605711) due to NFU1 gene defects is an ultra‐rare autosomal recessive inborn error of metabolism associated with reduced function of NFU1 iron–sulfur cluster (ISC) scaffold protein.
Charles R. DiFalco, Aaron Williams, Claudia Soler‐Alfonso, Emily Waskow, Elizabeth Mizerik, Fernando Scaglia, Chaya N. Murali   +6 more
wiley   +1 more source

Gastric volvulus associated with preduodenal portal vein in right isomerism: a case report. [PDF]

J Surg Case Rep
Le YN, Tran T, Phan KT, Nguyen MN.
europepmc   +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

Dextrocardia in Heterotaxy Syndrome (Polysplenia Variant) in a 36-Year-Old Ethiopian Woman: A Case Report and Literature Review. [PDF]

Case Rep Cardiol
Tukeni KN, Dekema RJ, Shukri MK, Mohammed JY, Jima MD, Kebede ML.   +5 more
europepmc   +1 more source

Selective Adsorption of o‐Xylene From all C8 Aromatics via Secondary Connectivity Manipulation in B←N Frameworks

Angewandte Chemie, EarlyView.
A programmed assembly strategy based on secondary connectivity integration allows modulating the B←N framework (BNF) microenvironment. Beyond possessing improved stability, the resulting BNFs achieve highly selective adsorption of o‐xylene from all C8 aromatics.
Xiang‐Shuai Li, Yizhou Wang, Wing‐Laam Luk, Jieying Hu, Rong Fu, Zhao Zhang, Zenan Chen, Jian Zhao, Wan Chan, Yangjian Quan   +9 more
wiley   +1 more source

Site-selective valence isomerism as a unified electronic trigger for magnetism, chirality, and catalysis in Ni-carboxylate MOFs. [PDF]

Nat Commun
Peng JH, Zhang H, Wei Z, Cao Y, Zhang J.
europepmc   +1 more source

Metabolic Labeling and Visualization of Isoprenoids Using Alkyne‐Modified DMAPP Analogs in Bacillus subtilis

Angewandte Chemie, EarlyView.
Fluorescence‐based visualization and targeted mass–spectrometric enrichment of membrane‐embedded isoprenoids in Bacillus subtilis via cell‐permeant, alkynylated DMAPP analogs. ABSTRACT Isoprenoids are a chemically and functionally diverse class of metabolites that underlie essential bacterial physiology including respiration and cell envelope ...
Zackary N. Hulsey, Dillon P. McBee, Claudia L. Dolan, Francis M. Rossi, Neil A. Truslow, Allyson R. Taylor, Thomas N. Trybala, Joshua A. Baccile   +7 more
wiley   +1 more source

Tackling Orientational Isomerism in Metal-Organic Frameworks Comprising Low-Symmetry Linker Molecules via Simulated Annealing Featuring a Neural Network Potential. [PDF]

J Comput Chem
Hörfarter BE, Seiwald S, Hofstötter C, Penz A, Gallmetzer JM, Hofer TS.   +5 more
europepmc   +1 more source

Hyperpolarization of Pyridine 15N‐Oxide Molecular Probes Enabled by Parahydrogen

Angewandte Chemie, EarlyView.
Pyridine 15N‐oxides are introduced as motifs for hyperpolarization studies and biochemical applications are demonstrated. ABSTRACT Magnetic resonance (MR) is a powerful non‐invasive technique for probing structural, functional, and metabolic processes with high spatial and temporal resolution.
Ruhuai Mei, Lisa Maria Fries, Gonzalo Gabriel Rodriguez, Charlotte von Petersdorff‐Campen, Leander Konstantin May, Julius Frederik Matz, Sergey Korchak, Grysette Daher, Stefan Glöggler   +8 more
wiley   +1 more source

Successful preterm cesarean delivery in a woman with right atrial isomerism: a case report. [PDF]

BMC Pregnancy Childbirth
He Y, Wu Q, Zhu Y, Xia G.
europepmc   +1 more source