Results 91 to 100 of about 193,929 (313)

Congenital dyserythropoiesis anemia type Ia with a novel CDAN1 mutation diagnosed by whole exome sequencing

Molecular Genetics & Genomic Medicine, 2020
Background Congenital dyserythropoiesis anemia type Ia (OMIM:224120), is a rare hereditary anemia. The diagnosis is difficult to make and usually delayed in part due to its rarity and nonspecific clinical manifestations.
Pei‐Chin Lin, Chao‐Neng Cheng, Hsi‐Yuan Huang, Yu‐Hsin Tseng, Ya‐Sian Chang, Chien‐Yu Lin, Jan‐Gowth Chang   +6 more
doaj   +1 more source

Prospective Evaluation of the Utility of Whole Exome Sequencing in Dilated Cardiomyopathy

Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease, 2020
Background Dilated cardiomyopathy may be heritable but shows extensive genetic heterogeneity. The utility of whole exome sequencing as a first‐line genetic test for patients with dilated cardiomyopathy in a contemporary “real‐world” setting has not been ...
Jay Ramchand, Mathew Wallis, Ivan Macciocca, Elly Lynch, Omar Farouque, Melissa Martyn, Dean Phelan, Belinda Chong, Siobhan Lockwood, Robert Weintraub, Tina Thompson, Alison Trainer, Dominica Zentner, Jitendra Vohra, Michael Chetrit, David L. Hare, Paul James   +16 more
doaj   +1 more source

Identities for Tribonacci-related sequences [PDF]

arXiv, 2002
We establish some identities relating two sequences that are, as explained, related to the Tribonacci sequence. One of these sequences bears the same resemblance to the Tribonacci sequence as the Lucas sequence does to the Fibonacci sequence. Defining a matrix that we call Tribomatrix, which extends the Fibonacci matrix, we see that the other sequence ...
arxiv  

Integer Sequences and Output Arrays [PDF]

arXiv, 2022
The first author recently introduced an integer sequence now numbered A355519 in OEIS. This sequence arose from counting bracket tournaments; its study evokes the analysis of the Catalan triangle (sequence A009766 in OEIS) and the related Catalan numbers, sequence A000108 in OEIS.
arxiv  

Unleashing the Power of Multiomics: Unraveling the Molecular Landscape of Peripheral Neuropathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Peripheral neuropathies (PNs) affect over 20 million individuals in the United States, manifesting as a wide range of sensory, motor, and autonomic nerve symptoms. While various conditions such as diabetes, metabolic disorders, trauma, autoimmune disease, and chemotherapy‐induced neurotoxicity have been linked to PN, approximately one‐third of
Julie Choi, Zitian Tang, Wendy Dong, Jenna Ulibarri, Elvisa Mehinovic, Simone Thomas, Ahmet Höke, Sheng Chih Jin   +7 more
wiley   +1 more source

Prognosis prediction of stage IV colorectal cancer patients by mRNA transcriptional profile

Cancer Medicine, Volume 11, Issue 24, Page 4900-4912, December 2022., 2022
This study aimed to clarify the prognostic factors for stage IV CRC patients undergoing primary cancer resection but not liver metastasis resection. WES and RNA‐Seq were used to sequence primary cancer tissues of 78 and 84 patients, respectively. Models were established to stratify the prognosis and to predict individual patient prognosis.
Bian Wu, Jinwei Yang, Zhiwei Qin, Hongping Yang, Jingyi Shao, Yun Shang   +5 more
wiley   +1 more source

A Novel CHMP2B Splicing Variant in Atypical Presentation of Familial Frontotemporal Lobar Degeneration

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT C‐truncating variants in the charged multivesicular body protein 2B (CHMP2B) gene are a rare cause of frontotemporal lobar degeneration (FTLD), previously identified only in Denmark, Belgium, and China. We report a novel CHMP2B splice‐site variant (c.35‐1G>A) associated with familial FTLD in Spain. The cases were two monozygotic male twins who
Sara Rubio‐Guerra, Sara Bernal, David Almenta, Josefina Pérez‐Blanco, Valle Camacho, Isabel Sala, Mª Belén Sánchez‐Saudinós, Jesús García Castro, Judit Selma‐González, Miguel Ángel Santos‐Santos, Álvaro Carbayo, Janina Turon‐Sans, Ricard Rojas‐Garcia, Daniel Alcolea, Juan Fortea, Alberto Lleó, Oriol Dols‐Icardo, Ignacio Illán‐Gala   +17 more
wiley   +1 more source

Autosomal recessive hyper‐IgE syndrome due to DOCK8 deficiency: An adjunctive role for omalizumab

Journal of Cutaneous Immunology and Allergy, Volume 5, Issue 6, Page 222-226, December 2022., 2022
We report a rare case of AR‐HIES with DOCK8 deficiency in a young male that was successfully treated by infection management, skincare, diet elimination, and omalizumab. Abstract Autosomal recessive hyper‐IgE syndrome (AR‐HIES) is a rare primary immunodeficiency disorder characterized by high serum IgE levels, recurrent viral skin infections, severe ...
Kim Han Nguyen, Quynh Anh Nguyen, Mai Hoang Tran, Thu Thuy Can, Mai Thi Vu, Nam Sy Vo, Hieu Chu Chi, Sheryl van Nunen, Dinh Van Nguyen   +8 more
wiley   +1 more source

Phase 1, First‐In‐Human, Single‐/Multiple‐Ascending Dose Study of Iluzanebart in Healthy Volunteers

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To evaluate the safety, tolerability, pharmacokinetics, and pharmacodynamics of iluzanebart, a fully human monoclonal antibody TREM2 (triggering receptor expressed on myeloid cells 2) agonist, after single‐ (SAD) and multiple‐ascending‐dose (MAD) administration.
Andreas Meier, Spyros Papapetropoulos, Andrew Marsh, Kelly Neelon, David Stiles, Ryan O'Mara, Evan A. Thackaberry, Marco Colonna, Raj Rajagovindan   +8 more
wiley   +1 more source

Whole Exome Sequencing of Chronic Myeloid Leukemia Patients

Iranian Journal of Public Health, 2016
Background: Previous studies have shown that leukemogenic chromosomal translocations, including fusions between Break point Cluster Region (BCR) and Abelson (ABL) are present in the peripheral blood of healthy individuals.
Shaghayegh SABRI, Manouchehr KEYHANI, Mohammad Taghi AKBARI   +2 more
doaj