Results 31 to 40 of about 39,375 (245)

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

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

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

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

Prenatal Diagnosis and Molecular Cytogenetic Characterization of a Small Supernumerary Marker Chromosome Derived from Chromosome 18 and Associated With a Reciprocal Translocation Involving Chromosomes 17 And 18

Taiwanese Journal of Obstetrics & Gynecology, 2010
Objective: Prenatal diagnosis of small supernumerary marker chromosomes (sSMC) gives rise to difficulties in genetic counseling, and requires molecular cytogenetic technologies such as spectral karyotyping, fluorescence in situ hybridization, multicolor ...
Chih-Ping Chen, Chyi-Chyang Lin, Yi-Ning Su, Fuu-Jen Tsai, Ju-Ting Chen, Schu-Rern Chern, Chen-Chi Lee, Dai-Dyi Town, Li-Feng Chen, Pei-Chen Wu, Wayseen Wang   +10 more
doaj   +1 more source

Complex Variant t(9;22) Chromosome Translocations in Five Cases of Chronic Myeloid Leukemia

Advances in Hematology, 2009
The Philadelphia (Ph1) chromosome arising from the reciprocal t(9;22) translocation is found in more than 90% of chronic myeloid leukemia (CML) patients and results in the formation of the chimeric fusion gene BCR-ABL.
Ana Valencia, José Cervera, Esperanza Such, Eva Barragán, Pascual Bolufer, Oscar Fuster, Rosa Collado, Jesús Martínez, Miguel A. Sanz   +8 more
doaj   +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

Characteristics and clinical evaluation of X chromosome translocations

Molecular Cytogenetics, 2023
Background Individuals with X chromosomal translocations, variable phenotypes, and a high risk of live birth defects are of interest for scientific study.
Ning Huang, Jihui Zhou, Wan Lu, Laipeng Luo, Huizhen Yuan, Lu Pan, Shujun Ding, Bicheng Yang, Yanqiu Liu   +8 more
doaj   +1 more source

Exploring lipid diversity and minimalism to define membrane requirements for synthetic cells

FEBS Letters, EarlyView.
Designing the lipid membrane of synthetic cells is a complex task, in which its various roles (among them solute transport, membrane protein support, and self‐replication) should all be integrated. In this review, we report the latest top‐down and bottom‐up advances and discuss compatibility and complexity issues of current engineering approaches ...
Sergiy Gan, Victoria Scarpelli, Marten Exterkate   +2 more
wiley   +1 more source

Reciprocal control of viral infection and phosphoinositide dynamics

FEBS Letters, EarlyView.
Phosphoinositides, although scarce, regulate key cellular processes, including membrane dynamics and signaling. Viruses exploit these lipids to support their entry, replication, assembly, and egress. The central role of phosphoinositides in infection highlights phosphoinositide metabolism as a promising antiviral target.
Marie Déborah Bancilhon, Bruno Mesmin
wiley   +1 more source