Results 221 to 230 of about 67,614 (310)

piR-27222 alleviates dexamethasone-induced osteoporosis by inhibiting ferroptosis through modulating WWP1. [PDF]

J Orthop Surg Res
Dai Y, Wen X, Li D, Chen M.
europepmc   +1 more source

Prenatal Exome Sequencing Identifies Dual Maternal‐Fetal Diagnosis of HbF Mission Bay, a Novel HBG2 Variant Associated With Methemoglobinemia, Hypoxia and Hemolytic Anemia

Prenatal Diagnosis, EarlyView.
ABSTRACT Prenatal exome sequencing (ES) can establish rare genetic diagnoses in a fetus but may also lead to occult genetic diagnosis in a biological parent. We present a case of dual fetal and maternal diagnosis by prenatal ES, in a fetus with unexplained anemia and in a pregnant patient with sickle cell disease (SCD) and recurrent unexplained hypoxia.
Matthew A. Shear, Billie Lianoglou, Ugur Hodoglugil, W. Patrick Devine, Ashutosh Lal, Juan Gonzalez, Teresa N. Sparks   +6 more
wiley   +1 more source

Biallelic loss-of-function variants in DSCAM cause a neurodevelopmental syndrome with nystagmus and retinal dysfunction. [PDF]

HGG Adv
Houge SD, Bredrup C, Jansson RW, Bojovic O, Aljamal BM, Al-Otaibi M, Plomp AS, Motazacker MM, van Genderen MM, Mellgren A, Alkuraya H, Hikmat O, Haukanes BI, Alkuraya FS, Houge GD.   +14 more
europepmc   +1 more source

Diagnosis and Management of Prenatal Hereditary Pyropoikilocytosis

Prenatal Diagnosis, EarlyView.
ABSTRACT Hereditary pyropoikilocytosis (HPP) is a severe hemolytic anemia caused by variants in SPTA1, SPTB, and EPB41. These weaken horizontal interactions in the erythrocyte cytoskeleton, causing membrane fragmentation and splenic sequestration. It will readily cause fetal anemia and often hydrops fetalis. Prenatal diagnosis requires first ruling out
Connor Hartzell, Samantha Stover, Nora Gibson, Timothy Olson, James Connelly, Matthew Grace, Jennifer Andrews   +6 more
wiley   +1 more source

Enhanced Zero-Bias Rectification in 1D Metal-Double-Insulator-Graphene Diodes for RF Energy Harvesting. [PDF]

ACS Appl Electron Mater
Hemmetter A, Pasadas F, Marin EG, Godoy A, Wang Z, Lemme MC.   +5 more
europepmc   +1 more source

Comparing the Applicability of State‐Of‐The‐Art Photopolymer Injection Molds Printed by Multi‐Material Jetting and High‐Performance Digital Light Processing

Polymer Engineering &Science, EarlyView.
The workflow of comparing state‐of‐the‐art photopolymers in rapid tooling. ABSTRACT Additive manufacturing (AM) introduced the concept of layer‐by‐layer manufacturing, which allows the fast and direct production of parts. Additive technologies are also hybridized with conventional polymer processing technologies.
Szabolcs Krizsma, András Suplicz
wiley   +1 more source

Caffeine Consumption Pattern and Associated Side Effects and Withdrawal Syndromes Among University Students of Bangladesh. [PDF]

Health Sci Rep
Rimu IJ, Islam MT, Mim HA, Sultana N, Jahan EA, Chowdhury AI.   +5 more
europepmc   +1 more source

MIM moves on

Metal Powder Report, 2002
openaire   +1 more source

Current Insight into Human Ornithine Aminotransferase: A Review

Proteins: Structure, Function, and Bioinformatics, EarlyView.
ABSTRACT Human ornithine aminotransferase (hOAT) is a mitochondrial matrix pyridoxal‐5′‐phosphate enzyme (PLP) that catalyzes the reversible transfer of the δ‐amino group of L‐ornithine (L‐Orn) to α‐ketoglutarate (α‐KG) yielding glutamate‐5‐semialdehyde (GSA) and glutamate. GSA is prone to cyclize to Δ1‐pyrroline‐5‐carboxylate.
Fulvio Floriani, Carla Borri Voltattorni, Riccardo Montioli   +2 more
wiley   +1 more source

Diagnostic utility of clinical genome reanalysis in rare pediatric disorders using long-read sequencing. [PDF]

HGG Adv
Werren EA, Vats P, Rech GE, Peracchio M, King C, Charnysh EJ, Gorham RD, Audano PA, Robinson PN, Kelly MA, Matson AP, Adams MD, Kalsner L.   +12 more
europepmc   +1 more source