Results 141 to 150 of about 88,636 (324)

P4‐ATPases as Phospholipid Flippases: From Membrane Dynamics to Human Disorders

Medicine Bulletin, EarlyView.
ABSTRACT P4‐ATPases (P4 subfamily of P‐type ATPases) flippase complex includes an α‐subunit responsible for catalysis and a supporting β‐subunit, which consumes energy by catalyzing the hydrolysis of ATP, thereby facilitating the translocation of aminophospholipids from the outer to the inner leaflet of cellular membranes to maintain the asymmetric ...
Guangyi Chen, Yeming Yang, Xianjun Zhu
wiley   +1 more source

RRP12 Variants Are Associated With Autosomal Recessive Brain Calcifications

Movement Disorders, EarlyView.
Abstract Background Primary brain calcifications are observed in several inherited diseases due to different pathogenic mechanisms, including the disruption of the neurovascular unit, mitochondrial dysfunction, and impaired nucleic acid metabolism.
Edoardo Monfrini, Paola Rinchetti, Mathieu Anheim, Anna Klingseisen, Ouhaid Lagha‐Boukbiza, Zhidong Cen, Dehao Yang, Xinhui Chen, Reza Maroofian, Henry Houlden, Gioia Cappelletti, Anne‐Claire Richard, Olivier Quenez, Camilo Toro, Steven J. Frucht, Francesco Lotti, Wei Luo, David Hunt, Gael Nicolas, Giulietta M. Riboldi   +19 more
wiley   +1 more source

Homozygous mutation in MCM7 causes autosomal recessive primary microcephaly and intellectual disability [PDF]

, 2021
Ethiraj Ravindran, Cynthia Gutierrez de Velazco, Ghazanfar Ali, Nadine Kraemer, Sami Zaqout, Abdül Waheed, Mohsan Hanif, Fahad Razaque Mughal, Alessandro Prigione, Na Li, Xiang Fang, Hao Hu, Angela M. Kaindl   +12 more
openalex   +1 more source

Integrating Long‐Read Nanopore Sequencing for Precision Resolution of Genomic Variants in Dystonia

Movement Disorders, EarlyView.
Abstract Background Although many individuals with dystonia present with features indicative of single‐gene etiologies, obtaining definitive genetic diagnoses can be challenging. Objective We assessed the value of nanopore‐based long‐read sequencing (LRS) in achieving molecular clarification of dystonic syndromes.
Ugo Sorrentino, Martin Pavlov, Nazanin Mirza‐Schreiber, Melanie Brugger, Theresa Brunet, Eugenia Tsoma, Alice Saparov, Ivana Dzinovic, Philip Harrer, Antonia M. Stehr, Matias Wagner, Erik Tilch, Barbara Wallacher, Shiraz Alhasan, Anne Koy, Alessio Di Fonzo, Miriam Kolnikova, Katarina Kusikova, Petra Havrankova, Raushana Tautanova, Sandy Lösecke, Sebastian Eck, Sylvia Boesch, Jan Necpal, Matej Skorvanek, Robert Jech, Holger Prokisch, Juliane Winkelmann, Konrad Oexle, Elisabeth Graf, Michael Zech   +30 more
wiley   +1 more source

Application of high-resolution array comparative genomic hybridization in children with unknown syndromic microcephaly [PDF]

, 2017
Eirini Tsoutsou, Maria Tzetis, Κρινιώ Γιαννίκου, Maria Braoudaki, Anastasis Mitrakos, Stella Amenta, Nikoletta Selenti, Emmanouil Kanavakis, Dimitrios Zafeiriou, Sophia Kitsiou‐Tzeli, Helena Fryssira   +10 more
openalex   +1 more source

Yield of Whole Genome Sequencing for Pathogenic Single Nucleotide Variants in Congenital Heart Disease: A Systematic Review and Meta‐Analysis

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective This systematic review and meta‐analysis aimed to assess the diagnostic yield of pathogenic or likely pathogenic (P/LP) single nucleotide variants (SNVs) using whole genome sequencing (WGS) in congenital heart disease (CHD). Methods A systematic search of three databases (2000–2024) was conducted, and two reviewers independently ...
Hiba J. Mustafa, Parisa Najjariasl, Faezeh Aghajani, Enaja V. Sambatur, Andrew Rodenbarger, Stephanie Guseh, Amy E. Roberts, Alireza A. Shamshirsaz   +7 more
wiley   +1 more source

Prenatal Exome Sequencing Analysis in Fetuses With Structural Anomalies: A Multicenter Prospective Cohort Study With Practical Implications

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To evaluate the diagnostic value of prenatal exome sequencing (ES) integrated with copy number variant (CNV) and single nucleotide variant (SNV) analysis (ES‐CNV/SNV) in fetuses with structural anomalies following negative chromosomal microarray analysis (CMA) and karyotyping, and to delineate the practical challenges encountered ...
Yulin Jiang, Haibo Li, Xiangyu Zhu, Liangpu Xu, Ying Chang, Fengqun Dong, Jianping Xiao, Jian Gao, Minyue Dong, Ying Peng, Hua Jin, Ting Wang, Xiaoxiao Xie, Lin Zhang, Hongmei Zhuang, Na Hao, Xiya Zhou, Hongna Wang, Ying You, Kun Ma, Rui Xiao, Qingwei Qi   +21 more
wiley   +1 more source

A translocation breakpoint disrupts the ASPM gene in a patient with primary microcephaly [PDF]

, 2004
Bruno Pichon, Sophie Vankerckhove, G. Bourrouillou, Laurence Duprez, Marc Abramowicz   +4 more
openalex   +1 more source

The Incremental Yield of CMA Over Karyotype in Fetal Growth Restriction—A Systematic Review and Meta‐Analysis

Prenatal Diagnosis, EarlyView.
ABSTRACT The main objective of our study was to conduct a systematic literature review and a meta‐analysis to evaluate the incremental yield of chromosomal microarray analysis compared with karyotyping in cases of fetal growth restriction. Our review was designed according to the PRISMA guidelines.
Ioakeim Sapantzoglou, Evangelia Kontogeorgi, Vasilios Pergialiotis, Konstantinos Tasias, Angeliki Rouvali, Afroditi Pegkou, Marianna Theodora, Georgios Daskalakis, Panagiotis Antsaklis   +8 more
wiley   +1 more source

Fetal Macrocephaly: Prenatal Findings and Follow‐Up in Cases With High Risk for Abnormal Outcome

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective Fetal macrocephaly (HC Z‐score ≥ +2) is a common reason for referral for neurosonography. While most cases are benign and asymptomatic, syndromic macrocephaly poses a significant risk of abnormal neurodevelopment. This study aimed to describe the sonographic and genetic features of fetuses at the highest risk of syndromic ...
Hadas Miremberg, Gustavo Malinger, Deborah Kidron, Michal Levy, Yuval Yaron, Mordechai Shohat, Rayna Goldstein, Liat Ben Sira, Michael Brusilov, Roee Birnbaum, Karina Krajden Haratz   +10 more
wiley   +1 more source