Results 51 to 60 of about 98,067 (307)

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

Hereditary multiple exostoses caused by a chromosomal inversion removing part of EXT1 gene

Molecular Cytogenetics, 2023
Background Hereditary multiple exostoses (HME) is an autosomal dominant skeletal disorder characterized by the development of multiple, circumscript and usually symmetric bony protuberances called osteochondromas.
Angelos Alexandrou, Nicole Salameh, Ioannis Papaevripidou, Nayia Nicolaou, Panayiotis Myrianthopoulos, Andria Ketoni, Ludmila Kousoulidou, Anna-Maria Anastasiou, Paola Evangelidou, George A. Tanteles, Carolina Sismani   +10 more
doaj   +1 more source

Metaphase and Interphase Cytogenetics with Alu-PCR-amplified Yeast Artificial Chromosome Clones Containing the BCR Gene and the Protooncogenes c-raf-1, c-fms, and c-erbB-21 [PDF]

, 1992
A human yeast artificial chromosome (YAC) library was screened by polymerase chain reaction with oligonucleotide primers defined for DNA sequences of the BCR gene and the protooncogenes c-raf-1, c-fms, and c-erB-2.
Becher, Reinhard, Cremer, Thomas, Green, Eric D., Konecki, David, Lengauer, Christoph, Olson, Maynard V., Riethman, Harold C., Speicher, Michael R., Taniwaki, Masafumi   +8 more
core  

Meiotic behavior of two polyploid species of genus Pleurodema (Anura: Leiuperidae) from central Argentina [PDF]

, 2014
Polyploidy is an important evolutionary force but rare in vertebrates. However, in anurans, the genus Pleurodema has polyploid species, two of them tetraploid and one octoploid.
Grenat, Pablo Raúl, Martino, Adolfo Ludovico, Otero, Manuel Alejandro, Salas, Nancy Edith, Valetti, Julian Alonso   +4 more
core   +2 more sources

ZSL Orchestrates Synaptonemal Complex Assembly as a Central Region Scaffold to Ensure Synapsis Fidelity and Crossover Control in Polyploid Meiosis

Advanced Science, EarlyView.
A central molecular adaptor, ZSL, is identified that links transverse filaments ZYP1 to central element SCEP1/2 to drive synaptonemal complex assembly in Brassica napus. Loss of ZSL abolishes synaptonemal complex formation, disrupts meiotic chromosome segregation, and markedly increases crossovers, providing mechanistic insight into meiotic fidelity ...
Miaowei Geng, Shaochen Jia, Fei Cao, Cuiping Liu, Heshuang Zhang, Gang Xu, Jixin Zhuang, Yashi Zhang, Can Liu, Yuhang Zhao, Zilin Guo, Xinjie Yuan, Jiaqing Yang, Lei Chu, Bowei Cai, Hu Zhao, Chao Yang   +16 more
wiley   +1 more source

Candidate genes for infertility: an in-silico study based on cytogenetic analysis

BMC Medical Genomics, 2022
Background The cause of infertility remains unclear in a significant proportion of reproductive-age couples who fail to conceive naturally. Chromosomal aberrations have been identified as one of the main genetic causes of male and female infertility ...
Jatinder Singh Sahota, Bhavna Sharma, Kamlesh Guleria, Vasudha Sambyal   +3 more
doaj   +1 more source

Comparative Oligo‐FISH Mapping Illuminates Chromosomal Evolution Among Rutaceae Species Diverged Over 50 Million Years

Advanced Science, EarlyView.
Oligonucleotide‐based fluorescence in situ hybridization probes were developed in the model citrus species Citrus maxima. These probes were applied to comparative karyotyping across 14 species in the Rutaceae family. This analysis revealed chromosomal evolution in lineages that diverged from Citrus nearly 52 million years ago.
Li He, Hainan Zhao, Xiaoxue Zeng, Zujun Yang, Wenting Li, Guoyan Zhang, Guangrong Li, Jian He, Bin Guan, Jiming Jiang   +9 more
wiley   +1 more source

Genome-wide identification of the NLR gene family in Haynaldia villosa by SMRT-RenSeq

BMC Genomics, 2022
Background Nucleotide-binding and leucine-rich repeat (NLR) genes have attracted wide attention due to their crucial role in protecting plants from pathogens.
Zhenpu Huang, Fangyuan Qiao, Boming Yang, Jiaqian Liu, Yangqi Liu, Brande B. H. Wulff, Ping Hu, Zengshuai Lv, Ruiqi Zhang, Peidu Chen, Liping Xing, Aizhong Cao   +11 more
doaj   +1 more source

Rapid generation of chromosome-specific alphoid DNA probes using the polymerase chain reaction [PDF]

, 1992
Non-isotopic in situ hybridization of chromosome-specific alphoid DNA probes has become a potent tool in the study of numerical aberrations of specific human chromosomes at all stages of the cell cycle. In this paper, we describe approaches for the rapid
A Gnirke, AHN Hopman, AR Mitchell, C Huxley, C Lengauer, Christoph Lengauer, D Pinkel, ED Green, EW Jabs, HF Willard, HF Willard, HF Willard, HM Rosenberg, Ian Dunham, J Anastasi, J Meyne, JE Koch, JS Waye, JS Waye, JS Waye, L Manuelidis, L Manuelidis, M Klever, P Emmerich, PJ Poddighe, PR Langer, S Popp, T Cremer, T Cremer, T Cremer, T Imai, T Maniatis, Terry Featherstone, Thomas Cremer   +33 more
core   +1 more source

Navigating the Post‐BCMA/GPRC5D Landscape: Efficacy of Selinexor, Bortezomib, and Dexamethasone After Sequential Immunotherapy Failure in Penta‐Refractory Multiple Myeloma—A Multicenter Analysis

American Journal of Hematology, EarlyView.
ABSTRACT Patients with relapsed/refractory multiple myeloma (RRMM) who are penta‐drug refractory, defined as resistant to two proteasome inhibitors, two immunomodulatory agents, and an anti‐CD38 monoclonal antibody, face a dismal prognosis, particularly after exposure to T‐cell–redirecting therapies.
Maximilian Al‐Bazaz, Winfried Alsdorf, Lisa Leypoldt, Piet Sonnemann, Christoph Schaefers, Jule Artzenroth, Marie Harzer, Abdulaziz Kamili, Leandra Bartke, Leon Cords, Jan Vorwerk, Theo Leitner, Markus Maulhardt, Kerstin Brinkert, Annamaria Brioli, Tim Richardson, Udo Holtick, Stefan M. Hillmann, Hans Salwender, Cyrus Khandanpour, Carsten Bokemeyer, Katja Weisel, Ricardo Kosch   +22 more
wiley   +1 more source