Results 41 to 50 of about 473,993 (259)

Heterozygous (INV6b-C2) E17.5

, 2018
Heterozygous inversion of the genomic region (INV6b-C2) analyzed at embryonic day E17.
Kazunori Sunadome (5396135), Bara Szarowska (5396156), Leslie Pan (5396126), Maria Eleni Kastriti (5396162), Karl Annusver (5396129), Francois Spitz (5396147), Jozef Kaiser (5396144), Kaj Fried (5396138), Julian Petersen (5396132), Patrik Ernfors (3108603), Ulrika Marklund (5396159), Orsolya Symmons (5396150), Tomas Zikmund (519148), Marketa Tesarova (5396123), Meng Xie (501184), Anna Kicheva (248020), Igor Adameyko (5396141), Maria Hovorakova (3111099), Hui Wang (30400), Marketa Kaucka (167847), Andrei S. Chagin (428691), Hind Abdo (5396153), Pascal Maire (407254), Maud Wurmser (3447275), Maria Kasper (4578178), Michael P. Matise (3138426)   +25 more
core   +2 more sources

Estudo das mutações C282Y, H63D e S65C do gene HFE em doentes brasileiros com sobrecarga de ferro Study of C282Y, H63D and S65C mutations in the HFE gene in Brazilian patients with iron overload

Revista Brasileira de Hematologia e Hemoterapia, 2007
Hemocromatose é uma das doenças genéticas mais freqüentes no ser humano e uma das causas mais importantes de sobrecarga de ferro. Os objetivos deste estudo foram determinar a freqüência das mutações C282Y, H63D e S65C do gene HFE em doentes brasileiros ...
Rodolfo D. Cançado, Aline C. O. Guglielmi, Carmen S. V. Vergueiro, Ernani G. Rolim, Maria Stella Figueiredo, Carlos S. Chiattone   +5 more
doaj   +1 more source

A novel Loss-of-function Mutation in MYBPC3 Causes familial hypertrophic cardiomyopathy with extreme intrafamilial phenotypic heterogeneity

Balkan Journal of Medical Genetics, 2023
Cardiomyopathies are a heterogeneous group of diseases predominantly affecting the heart muscle and often lead to progressive heart failure-related disability or cardiovascular death.
Peng Y, Xu J, Wang Y, Zhao J, Zhang L, Chen Z, Jiang Y, Banerjee S, Zhang Z, Bai M   +9 more
doaj   +1 more source

Skewed X-Chromosome Inactivation and Parental Gonadal Mosaicism Are Implicated in X-Linked Recessive Female Hemophilia Patients

Diagnostics, 2022
Background: Hemophilia A (HA) and B (HB) are X-linked recessive disorders that mainly affect males born from a mother carrier. Females are rarely affected but a number of mechanisms have been suggested in symptomatic females, such as skewed X-chromosome ...
Ming-Ching Shen, Shun-Ping Chang, Dong-Jay Lee, Wen-Hsiang Lin, Ming Chen, Gwo-Chin Ma   +5 more
doaj   +1 more source

Intrapatient tumour heterogeneity and clonal evolution in an autopsy study of metastatic salivary gland cancer

Molecular Oncology, EarlyView.
Tumour heterogeneity and clonal evolution of metastatic salivary gland cancer were evaluated in two patients with adenoid carcinoma and one patient with myoepithelial carcinoma. Radiology‐guided autopsy enabled multi‐region sampling (total samples n = 149), followed by whole‐genome sequencing and phylogenetic reconstruction (17 tumour samples, 4–7 per ...
Gerben Lassche, Niels J. van Ruitenbeek, Charlotte Adang, Luke O'Gorman, Pui Yuen Lee, Willemijn M. Klein, Adriana C. H. van Engen‐van Grunsven, Jack A. Schalken, Sander Bervoets, Gerald W. Verhaegh, Carla M. L. van Herpen   +10 more
wiley   +1 more source

Tetra-Primer Amplification-Refractory Mutation System (ARMS)—PCR for Genotyping Mouse Leptin Gene Mutation

Animals, 2022
Due to spontaneous deficiency in leptin, ob/ob mice are one of the most commonly used experimental animal models in diabetes research. In this study, we reported a quick and easy-to-conduct genotyping method using tetra-primer amplification refractory ...
Jiangang Chen, Xinyun Xu, Paul Dalhaimer, Ling Zhao   +3 more
doaj   +1 more source

Predictive and prognostic biomarkers of Bacillus Calmette‐Guérin therapy failure in bladder cancer patients: A systematic review

Molecular Oncology, EarlyView.
High‐risk bladder cancer is typically treated with Bacillus Calmette‐Guérin (BCG), but 30–40% of patients relapse. No FDA‐ or CE‐approved biomarkers currently predict or prognosticate BCG failure. We systematically reviewed the literature and identified 72 eligible studies, revealing several promising biomarkers associated with BCG treatment response ...
Rui Ribeiro‐Pereira, Ana Teixeira‐Marques, Rui Freitas, João A Carvalho, Sara Monteiro‐Reis, Giorgio I. Russo, Rui Henrique, Carmen Jerónimo   +7 more
wiley   +1 more source

Multiplicity of hereditary thrombophilic factors inherited from both parents results in child catastrophe

The Egyptian Journal of Internal Medicine, 2019
Here we present a rare case of hereditary thrombophilia due to transfer of multiple hereditary thrombophilic factors from father and mother with lethal outcome.
Afaf Hemeda
doaj   +1 more source

Bridging the gap: a genetically validated avian chorioallantoic membrane platform for investigation of spontaneous circulating tumor cells

Molecular Oncology, EarlyView.
We established the avian chorioallantoic membrane (CAM) assay as a scalable in vivo model for studying circulating tumor cells (CTCs). Human gastrointestinal tumors spontaneously released genetically validated CTCs that were detected across multiple platforms, demonstrating that the CAM model provides an accessible tool for investigating early cancer ...
Dennis Roth, Rui P. L. Neves, Julia Geheb, Christian Ballmeyer, Nathalie Gaßmann, Kiki C. Andree, Monica Sudarsanam, Christiane Driemel, Celine Örencik, Andrè Franken, Eslam Elmaghraby, Sven H. Loosen, Roderburg Christoph, Sebastian Schoelch, Hans Neubauer, Wolfram T. Knoefel, Nikolas H. Stoecklein, Georg Fluegen   +17 more
wiley   +1 more source

FAK-heterozygous mice display enhanced tumour angiogenesis [PDF]

, 2013
Genetic ablation of endothelial focal adhesion kinase (FAK) can inhibit pathological angiogenesis, suggesting that loss of endothelial FAK is sufficient to reduce neovascularization.
Jones, DT, Robinson, Stephen D, Baker, M, Delphine M. Lees, Kairbaan Hodivala-dilke, Parsons, Madeline; id_orcid, Reynolds, Louise E., Dylan T. Jones, Robinson, Stephen R., Parsons, Maddy, Hart, IR, Anna M. R, Ramjuan, Antoine R., Baker, Marianne, Tanguy Lechertier, Parsons, M, Tavora, B, Bernardo Tavora, Lechertier, Tanguy, Hart, Ian R., Kostourou, V, Stephen D. Robinson, Lechertier, T, Reynolds, Louise E, Birdsey, GM, Lees, Delphine M, Vassiliki Kostourou, Ramjaun, AR, Louise E. Reynolds, Marianne Baker, Hodivala-Dilke, K, Randi, AM, Randi, Anna M, Reynolds, LE, Jones, Dylan T., Hodivala-Dilke, Kairbaan, Tavora, Bernardo, Birdsey, Graeme M., Birdsey, Graeme M, Ramjaun, Antoine R, Randi, Anna M., Jones, Dylan T, Antoine R. Ramjaun, Robinson, SD, Lees, DM, Graeme M, Maddy Parsons, Ian R Harta, Lees, Delphine M., Kostourou, Vassiliki, Hart, Ian R   +50 more
core   +1 more source