Results 221 to 230 of about 714,611 (262)

A homozygous lamin B receptor variant resulting in Pelger-Huët anomaly without skeletal dysplasia. [PDF]

Nucleus
Hoffmann K, Vayá A, Ricart Vayá JM, Küchler O, Schmidt A, von Kügelgen N, Fischer-Zirnsak B, Sperling K.   +7 more
europepmc   +1 more source

Congenital short bowel syndrome: Clinical aspects by systematic review

JPGN Reports, EarlyView.
Abstract Objectives Congenital short bowel syndrome (CSBS) is a rare intestinal disorder characterized by inborn shortening of the bowel with mainly mutations in Coxsackie and Adenovirus receptor‐like membrane protein (CLMP) and Filamin A (FLNA) genes.
Barblin Remund, Susanne Schibli, Christiane Sokollik   +2 more
wiley   +1 more source

Genotype and Phenotype of 198 Korean Patients With Nonlethal Osteogenesis Imperfecta: A Retrospective Cohort Study. [PDF]

Hum Mutat
Lee J, Lee HR, Ko JM, Shin CH, Lee W, Song MH, Cho TJ.   +6 more
europepmc   +1 more source

Genetic Evolution in BRCA1-Associated Breast Cancer Reveals Early Driver Mutations Shaping Tumor Features and Prognosis. [PDF]

Cancer Sci
Hu L, Li Z, Wan Q, Liao X, Zhang Y, Liu Q, Ding X, Meng H, Wu Y, Sun J, Zhang J, Yao L, Xu Y, Xie Y.   +13 more
europepmc   +1 more source

Data‐Driven Insights into Hyperkinetic Disorders in Neurodevelopmental Syndromes and Epileptic Encephalopathies

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Childhood‐onset hyperkinetic movement disorders occur in a range of genetic conditions. Recently, there has been an increase in recognition of hyperkinetic movement disorders, mainly dystonia, chorea and dyskinesia, with monogenic conditions associated with neurodevelopmental delay (NDD) and also with developmental and epileptic ...
Hugo Morales‐Briceño, Shekeeb S. Mohammad, Rajeshwar Reddy Angiti, Velda Han, Michel Tchan, Russell C. Dale, Victor S.C. Fung   +6 more
wiley   +1 more source

DBP-CanPred: a machine learning model for predicting cancer-causing mutations in DNA-binding proteins. [PDF]

Front Bioinform
Phogat A, Krishnan SR, Pandey M, Gromiha MM.   +3 more
europepmc   +1 more source

Tracking Genetic Parkinson's Disease with Molecular Imaging: A Systematic Review

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Parkinson's disease (PD) is a worldwide, complex neurodegenerative disorder influenced by both genetic and environmental factors. Around 15–20% of PD cases are linked to genetic mutations, providing insights into the disease's pathogenesis.
Chiara Meneghini, Luca Gallo, Arianna Sala, Enza Maria Valente, Micol Avenali, Silvia Paola Caminiti   +5 more
wiley   +1 more source

Pathogenic Variants in PET Complex Encoding Genes <i>TDRD12</i> and <i>EXD1</i> Impair piRNA Biogenesis and Cause Male Infertility. [PDF]

Hum Mutat
Zhang B, Ma A, Wang H, Xie C, Ke S, Yu Z, Xu H, Xu Z, Li Z, Wang X, Yao L, Zhang F, Jiang L, Zhao X, Sun F.   +14 more
europepmc   +1 more source

Structural basis of kindlin-3 in leukocyte adhesion deficiency III. [PDF]

J Thromb Haemost
Xu Z, Ma S, Zhou Y, Ma YQ.
europepmc   +1 more source