Results 261 to 270 of about 176,215 (308)

Genetic analysis of primary lung interdigitating dendritic cell sarcomas

The Journal of Pathology, EarlyView.
Abstract Interdigitating dendritic cell sarcomas (IDCSs) are rare tumors that commonly arise in the hematopoietic system and rarely outside. The genetic drivers of IDCS carcinogenesis are unknown; therefore, therapeutic options are limited. We investigated somatic gene mutations and copy‐number alterations (CNAs) in nine IDCSs arising in the lung by ...
Mikhail S Ermakov, Juliana Faria Filipe, Sylvia Eidenhammer, German Ott, Iris Halbwedl, Karl Kashofer, Helmut Popper   +6 more
wiley   +1 more source

Identification of a Novel Homozygous <i>SLC34A1</i> Missense Mutation and a Heterozygous <i>SLC34A3</i> Deletion in an Infant with Nephrocalcinosis, Failure to Thrive, and Hypercalcemia. [PDF]

Int J Mol Sci
Mura-Escorche G, García-Suarez LC, Lebredo-Álvarez I, Ramos-Trujillo E, Claverie-Martin F.   +4 more
europepmc   +1 more source

Epileptic–Dyskinetic Encephalopathy Associated with a PPP3CA Variant: Expansion of the Phenotypic Spectrum

Movement Disorders Clinical Practice, EarlyView.
Bruno Antunes Contrucci, Ursula Thomé, Larissa Aparecida Batista, Ana Laura Volpi Martins Lorenzoni, Carla Andrea Cardoso Tanuri Caldas, Americo Ceiki Sakamoto, Israel Gomy, Lisandra Mesquita Batista, Marcela Lopes de Almeida, Ana Paula Andrade Hamad, Guillermo Andrey Ariza Traslaviña   +10 more
wiley   +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

Jervell and Lange‐Nielsen Syndrome Related Clinical Genetics and Experimental Models

Pediatric Discovery, EarlyView.
ABSTRACT Jervell and Lange‐Nielsen syndrome (JLNS) is defined by electrocardiographic QT prolongation and sensorineural hearing loss, caused by homozygous or compound heterozygous variants in KCNQ1 and/or KCNE1. KCNQ1 encodes the alpha subunit Kv7.1 of the ion channels accountable for slow delayed rectifier potassium currents (IKs), whereas KCNE1 ...
Yafei Zhou, Christopher L.‐H. Huang, Ying Yang, Yanmin Zhang   +3 more
wiley   +1 more source

PRITrans: A Transformer-Based Approach for the Prediction of the Effects of Missense Mutation on Protein-RNA Interactions. [PDF]

Int J Mol Sci
Ge F, Li CF, Zhang CM, Zhang M, Yu DJ.
europepmc   +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

Identification of a Missense Mutation in the FLNC Gene from a Chinese Family with Restrictive Cardiomyopathy. [PDF]

J Multidiscip Healthc
Dong J, Zhang W, Chen Q, Zha L.
europepmc   +1 more source

A novel missense mutation c.1381T>C: p.(S461P) in <i>POLE</i> causes multiple molecular features of endometrial carcinoma in China: a case report. [PDF]

Front Oncol
Li Y, Wang L, Han L, Zheng Z, Yan J.
europepmc   +1 more source

The Importance of Neuropathology in a Complex Movement Disorder with Primary Familial Brain Calcification

Movement Disorders, EarlyView.
Ida Gugler, Per Svenningsson, Inger Nennesmo, Martin Paucar   +3 more
wiley   +1 more source