Results 31 to 40 of about 85,080 (296)

Chromosomal translocation disrupting the SMAD4 gene resulting in the combined phenotype of Juvenile polyposis syndrome and Hereditary Hemorrhagic Telangiectasia

Molecular Genetics & Genomic Medicine, 2020
Background Patients with germline variants in SMAD4 can present symptoms of both juvenile polyposis syndrome (JPS) and Hereditary Hemorrhagic Telangiectasia (HHT): JP‐HHT syndrome.
Katrine S. Aagaard, Klaus Brusgaard, Ieva Miceikaite, Martin J. Larsen, Anette D. Kjeldsen, Emilie B. Lester, Lilian B. Ousager, Pernille M. Tørring   +7 more
doaj   +1 more source

Signal Recognition Particle (SRP) and SRP Receptor: A New Paradigm for Multistate Regulatory GTPases [PDF]

, 2009
The GTP-binding proteins or GTPases comprise a superfamily of proteins that provide molecular switches in numerous cellular processes. The “GTPase switch” paradigm, in which a GTPase acts as a bimodal switch that is turned “on” and “off” by external ...
Schmid, Sandra L., Shan, Shu-ou, Zhang, Xin   +2 more
core   +2 more sources

The Economic Burden of Chromosome Translocations and the Benefits of Enhanced Screening for Cattle Breeding

Animals, 2022
The cattle breeding industry, through both of its derivatives (dairy and beef), provides 81% of milk and 22% of meat required globally. If a breeding bull is sub-fertile, this impacts herd conception and birth rates, and it is generally accepted that ...
Nicole M. Lewis, Carla Canedo-Ribeiro, Claudia C. Rathje, Rebecca L. Jennings, Maxim Danihel, Lisa M. Bosman, Giuseppe Silvestri, Darren K. Griffin   +7 more
doaj   +1 more source

Type VI secretion: a beginner's guide [PDF]

, 2008
Type VI secretion is a newly described mechanism for protein transport across the cell envelope of Gram-negative bacteria. Components that have been partially characterised include an IcmF homologue, the ATPase ClpV, a regulatory FHA domain protein and ...
Akeda, Baron, Bladergroen, Brzuszkiewicz, Christopher M Bailey, Dandekar, Das, Das, de Bruin, Dreyfus, Dudley, Dudley, Durocher, Economou, Finn, Folkesson, Gardy, Henderson, Johnson, Kulasekara, Lewis EH Bingle, Mark J Pallen, Mougous, Mougous, Nano, Pallen, Parsons, Pukatzki, Pukatzki, Purcell, Roest, Schell, Schlieker, Seshadri, Shalom, Sheahan, Srinivasa Rao, Tatusov, VanRheenen, Ventre, Wang, Weibezahn, Williams, Yahr, Yeo, Zheng, Zheng, Zusman   +47 more
core   +1 more source

Familial reciprocal non robertsonian translocation t(14;22) resulting in 22q11.2 deletion syndrome

The Turkish Journal of Pediatrics, 2019
We report the clinical and genetic characterization of 2 cousins sharing the same chromosomal anomaly; a 22pter-q11.2 deletion and a 14pter-q13 duplication due to an unusual familial reciprocal non robertsonian translocation between 2 acrocentric ...
Nahla Nazmy, Ghada Elhady, Esraa Refaat, Soha Kholeif   +3 more
doaj   +1 more source

Errors in chromosome segregation during oogenesis and early embryogenesis [PDF]

, 2010
Errors in chromosome segregation occurring during human oogenesis and early embryogenesis are very common. Meiotic chromosome development during oogenesis is subdivided into three distinct phases.
A Dyban, A Kuliev, A Kuliev, A Mantzouratou, A Pujol, AL Barlow, C Gutierrez-Mateo, C Gutierrez-Mateo, C Staessen, C Tease, C Tease, C Tease, C Yuncken, CM Conn, CM Conn, D Wells, D Wells, E Bendsen, E Fragouli, E Fragouli, E Fragouli, E Fragouli, E Iwarsson, EY Cheng, F Pellestor, F Pellestor, G Sher, HE Hall, J Cohen, J Cozzi, JD Delhanty, JD Delhanty, JD Delhanty, JD Delhanty, KT Jones, L Gianaroli, L Gras, L Voullaire, L Voullaire, L Wilton, M Hultén, M Sandalinas, M Simopoulou, MA Hultén, ML Lenzi, NV Kovaleva, P Platteau, PA Almeida, PA Hunt, R Angell, R Mahmood, S Cupisti, S Evsikov, S Mastenbroek, S Munné, S Munné, S Munné, S Munné, S Munné, S Munné, S Munné, S Munné, T Anahory, T Hassold, TR Oliver, Y Verlinsky   +65 more
core   +1 more source

Analysis of meiotic segregation modes in biopsied blastocysts from preimplantation genetic testing cycles of reciprocal translocations

Molecular Cytogenetics, 2019
Purpose To analyse the meiotic segregation modes of chromosomal structural rearrangements (PGT-SR) of reciprocal translocation in biopsied blastocysts from preimplantation genetic testing and to investigate whether any features of reciprocal ...
Jie Wang, Dong Li, Zhipeng Xu, Zhenyu Diao, Jianjun Zhou, Fei Lin, Ningyuan Zhang   +6 more
doaj   +1 more source

Reciprocal translocations: tracing their meiotic behavior [PDF]

Genetics in Medicine, 2008
Segregation and interchromosomal effect studies have been performed in reciprocal translocation carriers by sperm-fluorescent in situ hybridization reporting a great heterogeneity. The divergences have been attributed to the particular cytogenetic characteristics of each rearrangement.
Ester, Anton, Francesca, Vidal, Joan, Blanco   +2 more
openaire   +2 more sources

Assessment of Molecular Cytogenetic Methods for the Detection of Chromosomal Abnormalities [PDF]

, 2006
Some marker chromosomes and chromosome rearrangements are difficult to identify using G-bands by Giemsa staining after trypsin treatment (G-banding) alone.
Maruyama, Hidehiko, Morishima, Tsuneo, Ninomiya, Shinsuke, Shinozuka, Masako, Une, Tomoka, Yokoyama, Yuji   +5 more
core   +1 more source

PGT-SR: A Comprehensive Overview and a Requiem for the Interchromosomal Effect

DNA, 2023
Preimplantation genetic testing for structural rearrangements (PGT-SR) was one of the first applications of PGT, with initial cases being worked up in the Delhanty lab.
Darren K. Griffin, Cagri Ogur
doaj   +1 more source