Results 221 to 230 of about 633,963 (350)

Oncostatin M silence and neopeptide: the value of exploring patients with rare inherited bone marrow failure. [PDF]

J Clin Invest
Delafontaine S, Meyts I.
europepmc   +1 more source

Neonatally Lethal Fanconi Anemia due to an Amish Founder FANCE Gene Variant; Evidence for Genotype–Phenotype Correlation

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Prenatal and neonatal presentations of multiple congenital anomalies are difficult to diagnose and are associated with an increased risk of lethality. The differential diagnosis of antenatal presentations of radial ray malformations includes Fanconi anemia (FA), an inherited bone marrow failure disorder associated with congenital anomalies in ...
Ethan M. Scott, Olivia K. Wenger, Matthew Adams, Emma L. Baple, Andew Crosby, Joseph Leslie   +5 more
wiley   +1 more source

COVID‐19 and myasthenia gravis: A review of neurological implications of the SARS‐COV‐2

Brain and Behavior, Volume 12, Issue 12, December 2022., 2022
Abstract Introduction This review highlights the potential mechanisms of neuromuscular manifestation of COVID‐19, especially myasthenia gravis (MG). Methods An extensive literature search was conducted by two independent investigators using PubMed/MEDLINE and Google Scholar from its inception to December 2020. Results Exacerbations of clinical symptoms
Syed Muhammad Ismail Shah, Farah Yasmin, Roha Saeed Memon, Nadia Nazir Jatoi, Ilma Saleh Savul, Sana Kazmi, Syed Abdullah Monawwer, Muhammad Daim Bin Zafar, Muhammad Sohaib Asghar, Muhammad Junaid Tahir, Ka Yiu Lee   +10 more
wiley   +1 more source

Tandem mass spectrometry in screening for inborn errors of metabolism: comprehensive bibliometric analysis. [PDF]

Front Pediatr
Kononets V, Zharmakhanova G, Balmagambetova S, Syrlybayeva L, Berdesheva G, Zhussupova Z, Tautanova A, Kurmambayev Y.   +7 more
europepmc   +1 more source

Expanding the SIAH1‐Associated Phenotypic Spectrum: Insights From Loss‐of‐Function Variants

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT SIAH1 encodes for a RING‐type E3 ubiquitin ligase involved in protein ubiquitination. More specifically, it positively regulates Wnt signaling through promoting the accumulation of β‐catenin and mediates ubiquitination and degradation of Akt3 in neural development.
Liza Douiev, Paula Fernandez Alvarez, Marika Frank, Lucy Hanington, Trevor L. Hoffman, Mira B. Irons, Jenny Kim, Akash Kumar, Amaia Lasa‐Aranzasti, Diana Le Duc, Helen Livesey, Oliver Murch, Deborah Shears, Brandon K. Walther, Tamar Harel   +14 more
wiley   +1 more source

The roles of MMP8/MMP10 polymorphisms in ischemic stroke susceptibility

Brain and Behavior, Volume 12, Issue 12, December 2022., 2022
Abstract Background Ischemic stroke (IS), a multifactorial and polygenic disease, is the most common cause of death. This study aimed to determine the roles of MMP8/MMP10 polymorphisms in IS susceptibility in the Chinese Han population. Methods MMP8 rs1940475 and rs3765620, and MMP10 rs17860949 from 700 IS patients and 700 controls were genotyped by ...
Yong Zhao, Qi Zhang, Xiaobo Zhang, Yu Zhang, Ying Lu, Xiaojuan Ma, Weiping Li, Xiaochen Niu, Gejuan Zhang, Mingze Chang, Wenzhen Shi, Ye Tian   +11 more
wiley   +1 more source

A Decade of Chronic Norovirus Infection Surveillance at the National Institutes of Health Clinical Research Center: Clinical Characteristics, Molecular Epidemiology, and Replication. [PDF]

J Infect Dis
Chaimongkol N, Kim DY, Matsushima Y, Durkee-Shock J, Barton K, Ahorrio CN, Fahle GA, Bok K, Behrle-Yardley A, Johnson JA, de Jesús-Díaz DA, Parra GI, Levenson EA, Maeda FY, Sosnovtsev SV, Green KY.   +15 more
europepmc   +1 more source

A New EP300‐Related Syndrome With Prominent Developmental and Immune Phenotypes

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Rubinstein Taybi syndrome (RTS) is a disorder of chromatin remodeling and transcriptional regulation caused by heterozygous pathogenic variants in CREBBP and EP300. RTS is characterized by a distinct facial gestalt, intellectual disability, structural kidney and heart differences, feeding difficulties, and broad thumbs and great toes ...
Devi Priyanka Maripuri, Jessica Gold, Nina Gold, Alanna Strong   +3 more
wiley   +1 more source

The Metabolic Treatabolome and Inborn Errors of Metabolism Knowledgebase therapy tool: Do not miss the opportunity to treat! [PDF]

J Inherit Metab Dis
den Hollander B, Hoytema van Konijnenburg EMM, Hewitson B, van der Meijden JC, Balfoort BM, Winter B, Müller AR, Wasserman WW, Ferreira CR, van Karnebeek CD.   +9 more
europepmc   +1 more source

Quo vadis: the re-definition of “inborn metabolic diseases”

Journal of Inherited Metabolic Disease, 2015
E. Morava, S. Rahman, V. Peters, M. Baumgartner, M. Patterson, J. Zschocke   +5 more
semanticscholar   +1 more source