Results 91 to 100 of about 462,672 (344)

Heteroduplex analysis of tra delta f' plasmids and the mechanism of their formation [PDF]

, 1977
Four tra delta FargG+ plasmids, derived from matings between Hfr AB312 and a recA recipient, have been shown to have deletions of at least 50% of the F genome, including the region in which the tra genes map.
Clark, Alvin J., Davidson, Norman, Guyer, Mark S.   +2 more
core   +1 more source

Combined flow cytometry and high-throughput image analysis for the study of essential genes in Caenorhabditis elegans [PDF]

, 2018
Background: Advances in automated image-based microscopy platforms coupled with high-throughput liquid workflows have facilitated the design of large-scale screens utilising multicellular model organisms such as Caenorhabditis elegans to identify genetic
Artal Sanz, Marta, Askjaer, Peter, Baumeister, Ralf, Erinjeri, Annmary Paul, González Hernández, Sara, Hernando Rodríguez, Blanca, Millar, Val, Muñoz, Manuel J., Olmedo López, María, Rodríguez Palero, María Jesús, Schulze, Bettina   +10 more
core   +1 more source

Complementarity of Long‐Reads and Optical Mapping in Parkinson's Disease for Structural Variants

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Long‐read sequencing and optical genome mapping technologies have the ability to detect large and complex structural variants. This has led to the discovery of novel pathogenic variants in neurodegenerative movement disorders. Thus, we aimed to systematically compare the SV detection capabilities of OGM and ONT in Parkinson's disease.
André Fienemann, Theresa Lüth, Susen Schaake, Carolin Gabbert, Marius Möller, Hauke Busch, Katja Lohmann, Jonas A. Gustafson, Danny E. Miller, Kensuke Daida, Manabu Funayama, Nobutaka Hattori, Samia Ben Sassi, Faycel Hentati, Matthew J. Farrer, Kristian K. Ullrich, Christine Klein, Joanne Trinh   +17 more
wiley   +1 more source

Proximal 4p Deletion Syndrome in an Infant With Multiple Systemic Anomalies

Molecular Genetics & Genomic Medicine
Background Contiguous gene deletion in the short arm of chromosome 4 is linked to various neurodevelopmental disorders. Methods In this study, we conducted peripheral blood chromosome G‐banding karyotyping and whole‐exome sequencing (WES) on a proband ...
Ying Pang, Lan Zeng, Hua Liang, Chunlan Cheng, Lihui Shan, Jin Wang, Nanjing Jiang, Guanghuan Pi, Li Yang, Ai Chen, Fu Xiong, Shuyao Zhu   +11 more
doaj   +1 more source

A Case of Chromosome 17q12 Deletion Syndrome with Type 2 Mayer–Rokitansky–Küster–Hauser Syndrome and Maturity-Onset Diabetes of the Young Type 5

Children
Chromosome 17q12 deletion syndrome (OMIM #614527) is a rare genetic disorder associated with a heterozygous 1.4–1.5 Mb deletion at chromosome 17q12, leading to a spectrum of clinical manifestations, including kidney abnormalities, neurodevelopmental ...
Rosie Lee, Jung Eun Choi, Eunji Mun, Kyung hee Kim, Sun Ah Choi, Hae Soon Kim   +5 more
doaj   +1 more source

Persistent Fifth Aortic Arch Associated with 22q11.2 Deletion Syndrome

Journal of the Formosan Medical Association, 2006
Chromosome 22q11.2 deletion is frequently associated with conotruncal malformations and aortic arch anomalies. This study investigated the association of chromosome 22q11.2 deletion with clinical manifestations in four pediatric patients with persistent ...
Meng-Luen Lee
doaj   +1 more source

Klinefelter syndrome with long-arm X-chromosome deletion. [PDF]

Adv Lab Med, 2022
Escribano Hernández V, Sanz de Benito MÁ, Carraro Casieri R.   +2 more
europepmc   +1 more source

Early Clinical, Imaging, and Pathological Characteristics of SRPK3/TTN‐Digenic Myopathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective SRPK3/TTN‐digenic myopathy was recently established as a skeletal muscle myopathy caused by digenic inheritance. This study characterizes the early clinical presentation of SRPK3/TTN‐digenic myopathy in one previously reported and seven newly identified pediatric patients.
Rotem Orbach, Sandra Donkervoort, Carola Hedberg‐Oldfors, Giovanni Baranello, Dimah Saade, Precilla D'Souza, Ruchee Patel, Eva Michael, A. Reghan Foley, Diana Bharucha‐Goebel, S. Jin Haugland, Meghan McAnally, Omer Abdul Hamid, Katherine Chao, Ellen F. Macnamara, Alan H. Beggs, Anna Sarkozy, Juliane Mueller, Steven A. Moore, Richard S. Finkel, Cynthia J. Tifft, Francesco Muntoni, Anders Oldfors, Carsten G. Bönnemann   +23 more
wiley   +1 more source

A Bifunctional T3SS‐Effector Simultaneously Cleaves Host MAP Kinase and Inhibits PPM1A Phosphatase

Advanced Science, EarlyView.
Pathogenic bacteria exploit the metalloprotease effector NleD to subvert host defenses. Structural, biochemical, and infection analyses reveal a bifunctional mechanism by which NleD binds and inhibits the host phosphatase PPM1A while preserving its proteolytic activity against MAPKs.
Yaakov Socol, Lihi Gur‐Arie, Netanel Tzarum, Tamara Wellins, Naama Katsowich, Miriam Ravins, Michal Bejerano‐Sagie, Klil Cohen, Oded Livnah, Joshua N. Adkins, Ernesto Nakayasu, Alexei Savchenko, Yeu Khai Choong, Nikhil Kumar Tulsian, Saturo Machida, Sigal Ben‐Yehuda, Yael Litvak, J. Sivaraman, Ilan Rosenshine   +18 more
wiley   +1 more source

Fine-Structure Map of the Histidine Transport Genes in \u3cem\u3eSalmonella typhimurium\u3c/em\u3e [PDF]

, 1977
Afine-structure genetic map of the histidine transport region of the Salmonella typhimurium chromosome was constructed. Twenty-five deletion mutants were isolated and used for dividing the hisJ and hisP genes into 8 and 13 regions respectively.
Afong, J., Ames, Giovanna Ferro-Luzzi, Ardeshir, F., Nikaido, Kishiko, Noel, K. Dale, Spudich, E. Negri, Taber, H.   +6 more
core   +1 more source