Results 41 to 50 of about 58,343 (309)

BCR/ABL1 fluorescence in situ hybridization fusion signals on both copies of chromosome 22 in a Philadelphia-masked chronic myeloid leukemia case: implication for the therapy

Hematology Reports, 2021
The cytogenetic hallmark of Chronic Myeloid Leukemia (CML) is the presence of Philadelphia (Ph) chromosome, which results from a reciprocal translocation t(9;22)(q34;q11).
Silvia Soriani, Valentina Guido, Giambattista Bertani, Clara Cesana, Valentina Motta, Gabriella De Canal, Elena De Paoli, Silvio Veronese, Emanuela Bonoldi, Lorenza Romitti   +9 more
doaj   +1 more source

Y CHROMOSOME ABNORMALITY IN PATIENTS WITH AMBIGUOUS GENITALIA [PDF]

, 2008
Background. Ambiguous genitalia is an abnormality signing by the presence of atypical appearance of external genitalia as male or female, or appear as combination of both male and female appearance.
Wasilah , Siti, Winarni, TI, Susanto, Rudy   +2 more
core  

Clinical performance of the urine‐based TERT promoter AbsoluteQ Digital PCR for non‐invasive detection of bladder cancer

Molecular Oncology, EarlyView.
A urine‐based digital PCR assay targeting two hotspot TERT promoter variants detected bladder cancer with high sensitivity and no false positives in this case–control cohort. The streamlined AbsoluteQ workflow outperformed Sanger sequencing and supports non‐invasive molecular testing for bladder cancer detection.
Anna Nykel, Izabela Kubiak, Lena Rutkowska, Żaneta Kasprzyk, Łukasz Kępczyński, Michał Bednarek, Dariusz Sobieraj, Jacek Wilkosz, Piotr Kania, Adam Jędrzejczyk, Bogdan Kałużewski, Agnieszka Gach, Tadeusz Kałużewski   +12 more
wiley   +1 more source

Parallel derivation of X-monosomy induced pluripotent stem cells (iPSCs) with isogenic control iPSCs

Stem Cell Research, 2020
Turner syndrome, caused by partial or complete loss of one copy of X-chromosome (45,X), is the most common sex chromosome abnormality in women with an incidence of 1 in 2500 female births.
Anis Feki, Frédérique Sloan-Béna, Youssef Hibaoui   +2 more
doaj   +1 more source

MITF maintains genome stability in nonmelanocyte lineages

Molecular Oncology, EarlyView.
MITF is essential for melanocyte survival and acts as an oncogene in 10%–20% of melanomas. We show that MITF depletion causes genome instability in nonmelanocytic cells, leading to LATS2‐mediated P53 activation, cell cycle arrest, and apoptosis. This study highlights the role of MITF as a genome maintenance factor beyond the melanocyte lineage. Created
Drifa H. Gudmundsdottir, Adrián López García de Lomana, Thejus B. Venkatesh, Kritika Kirty, Snaevar Sigurdsson, Linda Vidarsdottir, Ramile Dilshat, Erla Sveinbjornsdottir, Snaedis Ragnarsdottir, Daniel H Magnusson, Maria R. Bustos, Eirikur Steingrimsson, Thorkell Gudjonsson, Stefan Sigurdsson   +13 more
wiley   +1 more source

A new reciprocal translocation in a subfertile bull

Genetics Selection Evolution, 2000
Three bulls of the Montbéliarde breed that exhibited fertility rates lower than 30% following more than 400 artificial inseminations were examined. Semen quality (sperm motility and morphology) from these bulls was normal.
Darré Roland, Boichard Didier, Humblot Patrice, Guienne Brigitte, Darré Aafke, Brun-Baronnat Corinne, Berland Hélène, Pinton Alain, Séguéla Anne, Dumont Pascal, Ducos Alain   +10 more
doaj   +1 more source

Simultaneous detection of genomic imbalance in patients receiving preimplantation genetic testing for monogenic diseases (PGT-M)

Frontiers in Genetics, 2022
Background: Preimplantation genetic test for monogenic disorders (PGT-M) has been used to select genetic disease-free embryos for implantation during in vitro fertilization (IVF) treatment.
Lin Yang, Lin Yang, Yan Xu, Yan Xu, Jun Xia, Jun Xia, Huijuan Yan, Chenhui Ding, Chenhui Ding, Qianyu Shi, Yujing Wu, Ping Liu, Jiafu Pan, Jiafu Pan, Yanhong Zeng, Yanhong Zeng, Yanyan Zhang, Fang Chen, Hui Jiang, Yanwen Xu, Yanwen Xu, Wei Li, Wei Li, Canquan Zhou, Canquan Zhou, Ya Gao, Ya Gao   +26 more
doaj   +1 more source

Chromosome Studies On Human Leukemias [PDF]

, 1965
Chromosome studies were carried out on 13 cases of various types of leukemias (acute myelogenous and lymphocytic leukemias, monocytic leukemia, erythroleukemia, chronic myelogenous and lymphocytic leukemias, and the Down's syndrome associated with acute ...
Norio Kawamura, Kawamura, Norio
core   +1 more source

ZW4864‐mediated inhibition of the β‐catenin/BCL9/BCL9L complex reveals therapeutic potential in bladder cancer

Molecular Oncology, EarlyView.
BCL9 and BCL9L drive bladder cancer progression by enhancing β‐catenin signaling, promoting proliferation, migration, invasion, and organoid growth. Genetic depletion of BCL9(L) suppresses malignant phenotypes, while pharmacological disruption of the β‐catenin/BCL9(L) complex with ZW4864 inhibits canonical Wnt signaling and tumor‐associated cellular ...
Roland Kotolloshi, Mandy Berndt‐Paetz, Eileen Lerner, Gregoire Najjar, Anca Azoitei, Krishna Pal Singh, Shailendra Kumar Gupta, Olaf Wolkenhauer, Cagatay Günes, Otmar Huber, Marc‐Oliver Grimm, Daniel Steinbach   +11 more
wiley   +1 more source

CHROMOSOMAL ABNORMALITIES IN A REFERRED POPULATION: A REPORT OF 383 IRANIAN CASES [PDF]

Acta Medica Iranica, 1998
This report presents the cytogenetic findings (G -banded chromosomal analysis} in 383 cases referred for suspected chromosomal abnormalities because of abnormal clinical features.
M. T. Akbari., F. Behjati., Ashtiani M. Khaleghian   +2 more
doaj   +1 more source