Results 121 to 130 of about 67,701 (309)

Specific CNV regions distribution. [PDF]

, 2012
Specific CNV regions distribution.
Ronald Yeo (106465), Jingyu Liu (106454), Vince D. Calhoun (106472), Alvaro Ulloa (106458), Nora Perrone-Bizzozero (106462), Jiayu Chen (106469)   +5 more
core   +1 more source

The role of Rho GTPases in facial morphogenesis

Developmental Dynamics, EarlyView.
The role of small GTPases, RHOA, RAC1, and CDC42 and pathway mediators is reviewed in the context of embryonic facial development. Lip fusion requires cytoskeletal remodeling during morphogenesis of the facial processes and during lip fusion. Fnm, frontonasal mass; lnp, lateral nasal process; mnp, medial nasal process; mxp, maxillary process; np, nasal
Isra Ibrahim, Joy M. Richman
wiley   +1 more source

Serological titres to CNV. [PDF]

, 2013
Ten dogs seropositive to CNV from both the 1999–2001 and the 2012–2013 cohorts were randomly selected to determine anti-CNV antibody titre. Corrected OD450 values are plotted, calculated by subtracting the OD450 value of buffer-only coated wells.
Judy Mitchell (493406), Alexis de Rougemont (493407), Edward Emmott (493404), Ian Goodfellow (193063), Sarah Caddy (493403), Laila El-Attar (493405), Joe Brownlie (177254)   +6 more
core   +1 more source

Nanophotonic Biosensors and the Paradigm of Trans‐Scale Autonomous Bio‐Integrated Diagnostics for Addressing Health Complexities

Electron, EarlyView.
Physics‐driven advances in optical nanobiosensors for rapid, miniaturized, and point‐of‐care diagnostics for next‐generation decentralized and personalized healthcare based on sensor intelligence. ABSTRACT Public health emergencies and the escalating burden of chronic diseases necessitate a paradigm shift from centralized laboratory testing to rapid ...
Vishal Chaudhary, Harsh Sable, Sonu Sonu, Lakshita Phor, Reddicherla Umapathi, Pradeep Bhadola   +5 more
wiley   +1 more source

Clinical utility and genetic landscape of exome sequencing in a large pediatric epilepsy cohort: Insights from a Turkish tertiary care center

Epileptic Disorders, EarlyView.
Abstract Objective To evaluate the diagnostic utility and genetic spectrum of next‐generation sequencing (NGS) in a large, well‐phenotyped cohort of Turkish pediatric patients with epilepsy of unknown etiology. Methods Between January 2021 and December 2024, 250 children (115 female, 135 male) with unexplained epilepsy underwent either whole‐exome ...
Derya Karaer, Beste Kipçak Yüzbaşı, İpek Şahin, Olcay Güngör, Kadri Karaer   +4 more
wiley   +1 more source

Electroclinical phenotypes—genetic characterization of developmental and epileptic encephalopathies in a cohort study

Epileptic Disorders, EarlyView.
Abstract Objective Developmental and epileptic encephalopathies (DEEs) are characterized by refractory seizures and frequently recurring epileptic activity with neurodevelopmental delay or regression that usually begin in early life. We aimed to define the relationship between electroclinical features and etiology, as well as the genotype–phenotype ...
Burcu Yaman, Fulya Kurekci, Sinan Akbas, Ceyda Oney, Mehmet Akif Kilic, Hulya Maras Genc, Ayca Dilruba Aslanger, Edibe Pembegul Yildiz   +7 more
wiley   +1 more source

High incidence of Y‐chromosome mosaicism in male and female individuals with mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy

Epilepsia, EarlyView.
Abstract Objective Mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy (MOGHE) is an underrecognized pediatric cortical lesion associated with somatic X‐linked SLC35A2 variants in approximately 50% of individuals. The genetic etiology in individuals without detectable SLC35A2 mutations remains undefined, which limits
Erica Cecchini, Till Hartlieb, Ahmed Gaballa, Katja Kobow, Mitali Katoch, Paraskevi Chasani, Georgia Vasileiou, Wiebke Hofer, Lea M. Reisch, Manfred Kudernatsch, Christian G. Bien, Roland Coras, Ingmar Blümcke, Lucas Hoffmann   +13 more
wiley   +1 more source

Diagnostic yield and copy number variants findings in 219 adult patients with developmental and epileptic encephalopathy

Epilepsia, EarlyView.
Abstract In a clinical setting, exome sequencing (ES) with copy number variant (CNV) analysis is currently the most effective approach for developmental and epileptic encephalopathies (DEE). However, trio‐based ES is often not feasible in adults, its costs remain prohibitive in certain health care settings, and computational tools for CNV calling still
Laura Licchetta, Giulia Bruschi, Tania Giangregorio, Carlotta Stipa, Elisa Mannini, Raffaella Minardi, Barbara Mostacci, Valentina Tontini, Tommaso Pippucci, Francesca Bisulli, Pamela Magini   +10 more
wiley   +1 more source

The role of myeloid cell heterogeneity during spontaneous choroidal neovascularization in Vldlr knockout mice

Journal of Neuroinflammation
Background Myeloid cells are heterogeneous cells that are critical for spontaneous choroidal neovascularization (CNV) in the Vldlr −/− mouse model. However, the specific myeloid cell subtype necessary for CNV remains unknown.
Amrita Rajesh, Joyce Gong, Kyle S Chan, Ritvik Viniak, Steven Droho, David Kachar, Joshua Y Strauss, Andrew L. Wang, Jeremy A. Lavine   +8 more
doaj   +1 more source

Epilepsy‐associated SCN2A‐L1342P mutation drives network hyperexcitability and widespread transcriptomic changes in human cortical organoids

Epilepsia, EarlyView.
Abstract Objective SCN2A pathogenic mutations, such as the recurrent heterozygous Nav1.2‐L1342P, are monogenic causes of epilepsy. In this human‐induced pluripotent stem cell–derived model system, we aim to investigate the molecular and cellular mechanisms underlying SCN2A‐L1342P‐associated pathology. Methods Using a human male induced pluripotent stem
Maria I. Olivero‐Acosta, Morgan Robinson, Zhefu Que, Zaiyang Zhang, Karen V. Salazar‐Salazar, Hope Elizabeth Harlow, Vinayak Shankar, Seoyeon Hong, Muhan Wang, Conrad M. Otterbacher, Hina Kadono, Manasi Halurkar, Harish Kothandaraman, Nadia Atallah Lanman, Trang Nguyen, Kyle Wettschurack, Benjamin Zirkle, Layan Yunis, Ningren Cui, Xiaoling Chen, Jingliang Zhang, Jiaxiang Wu, William C. Skarnes, Chongli Yuan, Feng Guo, Megan Abbott, Yang Yang   +26 more
wiley   +1 more source