Results 41 to 50 of about 129,688 (299)

Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective PIGM encodes a critical enzyme in the glycosylphosphatidylinositol (GPI)‐anchor biosynthesis pathway. While promoter‐region mutations in PIGM have been associated with a relatively mild phenotype characterized by portal vein thrombosis and absence seizures, recent evidence suggests that coding‐region mutations result in a more severe
Júlia Sala‐Coromina, Anna Marcé‐Grau, Barbara Masotto, Marta Codina, Lamia BenJemaa, Yasmina Elaribi, Mónica Martinez‐Gallo, Roger Colobran, Angel Sanchez‐Montañez, Irene Valenzuela, Yoshiko Murakami, Alfons Macaya   +11 more
wiley   +1 more source

The Genetic Differentiation of Pyrrhulina (Teleostei, Characiformes) Species is Likely Influenced by Both Geographical Distribution and Chromosomal Rearrangements

Frontiers in Genetics, 2022
Allopatry is generally considered to be one of the main contributors to the remarkable Neotropical biodiversity. However, the role of chromosomal rearrangements including neo-sex chromosomes for genetic diversity is still poorly investigated and ...
Pedro H. N. Ferreira, Fernando H. S. Souza, Renata L. de Moraes, Manolo F. Perez, Francisco de M. C. Sassi, Patrik F. Viana, Eliana Feldberg, Tariq Ezaz, Thomas Liehr, Luiz A. C. Bertollo, Marcelo de B. Cioffi   +10 more
doaj   +1 more source

Chronic Lymphocytic Leukemia with t(14;18)(q32;q21) As a Sole Cytogenetic Abnormality

, 2014
Background Chronic lymphocytic leukemia (CLL) is the most common leukemia in adults. The chromosomal abnormality t(14;18)(q32;q21) is most commonly associated with neoplasms of a follicular center cell origin.
Abdulaziz Al-Abulaaly, Ghaleb Elyamany, Omar Alsuhaibani, Hatem Elghezal, Hani Osman, Kamal Fadalla   +5 more
core   +1 more source

The Price of Precision: A Critical Review of Molecular Diagnostics in Glioma, From Guidelines to Global Disparities

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Gliomas have undergone a profound redefinition over the past decade, transitioning from morphology‐based entities to biologically coherent diseases defined by molecular alterations. The 2021 WHO Classification of Tumors of the Central Nervous System and its 2022 update formalize this shift, establishing integrated diagnosis as the global ...
Maria Guarnaccia, Sebastiano Cavallaro
wiley   +1 more source

Comparative cytogenetic analysis on four tree frog species (Anura, Hylidae, Hylinae) from Brazil

, 2003
A comparative cytogenetic analysis was carried out on four Hylinae tree frogs from Brazil (Aparasphenodon brunoi, Corthomantis greeningi, Osteocephalus langsdorffi and Scinax fuscovarius) using Giemsa staining, BrdU replication banding, Ag-NOR staining ...
Gruber, S. L., Kasahara, S., Silva, APZ, Haddad, CFB   +3 more
core   +1 more source

T2T Genome Assembly and Multi‐Omics Data Reveal Terrestrial Adaptation and Mucus Biosynthesis in Tropical Leatherleaf Slug (Laevicaulis alte)

Advanced Science, EarlyView.
A gap‐free genome assembly and multi‐omics comparison of the terrestrial slug Laevichaulis alte with an aquatic relative reveal that expansion of the VEGF family orchestrates mucus production, lipid metabolism, and immune defense—highlighting key molecular innovations for conquering life on land.
Gang Wang, Shaofang He, Zhongkai Wang, Aobo Pang, Xiaoli Sun, Rongchen Liu, Fang Wang, Sisi Chen, Zhijuan Bian, Dongcheng Wei, Liuhan Wu, Siyao Zhao, Qiuting Ji, Yiqi Sun, Niying Sun, Yushinta Fujaya, Boping Tang, Kianann Tan, Daizhen Zhang, Lianfu Chen   +19 more
wiley   +1 more source

Cytogenetic Findings in Children With Dysmorphic Features and Intellectual Disability/Mental Retardation in Eastern Croatia

Southeastern European Medical Journal, 2020
Introduction: Numerical and structural chromosomal aberrations are some of the most common causes of intellectual disability/mental retardation (ID/MR), especially syndromic, and they represent about 10% of ID/MR that can be detected using cytogenetic ...
Višnja Tomac, Silvija Pušeljić, Jasenka Wagner, Martina Kos, Nikolina Arambašić, Mia Damašek   +5 more
doaj   +1 more source

Flow cytometry and chromosome numbers variation in argan tree Argania spinosa (L.) Skeels

Notulae Scientia Biologicae, 2023
Argania spinosa L. Skeels is an endemic species of west-central Morocco, which is characterized by a high diversity of morphological and genetic traits. It constitutes a natural resource for oleo-agro-sylvo-pastoral uses.
Ali EL BOUKHARI, Salma TABI, Abdelhamid EL MOUSADIK, Rachida EL BOULLANI, Abdelghani TAHIRI, Meriyem KOUFAN, Hamid BENYAHIA, Rachid BOUHARROUD, Naima AIT AABD   +8 more
doaj   +1 more source

Dual‐line Genome‐scale CRISPR Screening Enables Robust Target Gene Discovery

Advanced Science, EarlyView.
A species‐optimized CRISPR platform integrates efficient piggyBac delivery, genome‐scale sgRNA libraries, and parallel screening in two independently engineered Bactrocera dorsalis Cas9 cell lines. Cross‐line consensus analysis filters line‐specific effects, enriches candidates with reproducible in vivo phenotypes, and reveals conserved, species ...
Ziniu Li, Jiao Qiao, Qiuyuan Zhang, Peipei Liu, Chenjun Zheng, Qi Zhou, Mengqi Ji, Zhihui Zhu, Xiaoxue Li, Hongyu Zhang   +9 more
wiley   +1 more source

Deciphering copy number variations and gene implications in an Egyptian cohort with autism spectrum disorders

BMC Medical Genomics
Background Genetic factors are major contributors to autism spectrum disorders (ASD), with copy number variations (CNVs) playing a significant role. Our objective was to identify and assess CNVs and their associated gene-level impacts in Egyptian ASD ...
Amal M. Mohamed, Ola M. Eid, Khalda S. Amr, Rana Mahrous, Maha Hemimi, Amal Elsaeid, Peter S. F. Erian, Sally Gharib, Shymaa H. Hussein, Phoebe M. Abd El-Massieh, Nagwa A. Meguid   +10 more
doaj   +1 more source