Results 41 to 50 of about 151,762 (271)

Complex Genetic Architecture in RASopathies: Constitutional PTPN11 and Mosaic RIT1 Pathogenic Variants Underlying Severe Noonan Syndrome With Adult‐Onset Acute Myeloid Leukemia

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Noonan syndrome (NS) is a genetically heterogeneous disorder characterized by a broad spectrum of clinical features resulting from dysregulation of the RAS/MAPK pathway. Although complex genotypes are increasingly recognized in NS, cases harboring two distinct pathogenic variants in different NS genes remain extremely rare.
Francesco Prevedello, Dario Seif Ali, Chiara Piccolo, Chiara Rigon, Monica Forzan, Elena Tacchetto, Roberta Palmitessa, Davide Calosci, Leonardo Salviati, Carmela Gurrieri, Eva Trevisson   +10 more
wiley   +1 more source

Dgat1, cast and igf-i gene polymorphisms in akkaraman lambs and their effects on live weights up to weaning age [PDF]

Kafkas Universitesi Veteriner Fakültesi Dergisi, 2018
Early live weight in sheep is important for lamb survival and average weight gain until slaughter. The aim of the present study was to investigate association between CAST-MspI, DGAT1-AluI and IGF-1-Bsp143II polymorphisms and early live weights between ...
Davut BAYRAM, Bilal AKYÜZ, Korhan ARSLAN, Fadime ÖZDEMİR, Esma Gamze AKSEL, Mehmet Ulaş ÇINAR   +5 more
doaj   +1 more source

The Impact of Genotoxicity in Coke Oven Workers: Systematic Review With Meta‐Analysis

Journal of Applied Toxicology, EarlyView.
ABSTRACT This systematic review (SR) with meta‐analysis investigates the genotoxicity potential of coke oven workers (COWs) exposed to polycyclic aromatic hydrocarbons (PAHs) through a comprehensive analysis of studies retrieved from PubMed, SCOPUS, and Web of Science.
Thiago Guedes Pinto, Vinícius Fialho do Nascimento, Giovanna Abreu Holanda Guerra, Wilton Mitsunari Takeshita, Raquel Alves Sales, Andrea Cristina de Moraes Malinverni, Luciana Lopes Guimaraes, Daniel Araki Ribeiro   +7 more
wiley   +1 more source

Analysis of KatG Ser315Thr Mutation in Multidrug Resistant Mycobacterium tuberculosis and SLC11A1 Polymorphism in Multidrug Resistance Tuberculosis in Central Development Region of Nepal Using PCR-RFLP Technique: A Pilot Study

Nepal Journal of Biotechnology, 2011
Ser315Thr mutations in genes encoding the mycobacteria catalase-peroxidase (KatG) has been associated with the major resistance to isoniazid (INH) in Mycobacterium tuberculosis (MTB).
Raunak Shrestha, Rubin Narayan Joshi, Kriti Joshi, Bal Hari Poudel, Bhupal Govinda Shrestha   +4 more
doaj   +1 more source

Genetic diversity among Frankia strains nodulating members of the family Casuarinaceae in Australia revealed by PCR and restriction fragment length polymorphism analysis with crushed root nodules [PDF]

, 1996
DNA extracted directly from nodules was used to assess the genetic diversity of #Frankia# strains symbiotically associated with two species of genus #Casuarina# and two of the genus #Allocasuarina# naturally occuring in northeastern Australia.
Normand, Philippe, Prin, Yves, Reddell, Paul, Rouvier, Carole, Simonet, Pascal   +4 more
core  

Oral chondroitin sulfate and prebiotics for the treatment of canine Inflammatory Bowel Disease: a randomized, controlled clinical trial [PDF]

, 2016
BACKGROUND Canine inflammatory bowel disease (IBD) is a chronic enteropathy of unknown etiology, although microbiome dysbiosis, genetic susceptibility, and dietary and/or environmental factors are hypothesized to be involved in its pathogenesis. Since
A Ghiselli, A Tvarijonaviciute, A Wächtershäuser, ABC Samuelsen, AE Jergens, AE Jergens, AJ Schottelius, Alberto Muñoz-Prieto, Alfonso Velasco, Antonio Rodríguez-Bertos, CG Fraga, CS Brennan, D Boehm, D Martínez-Puig, Daniel Martínez-Puig, E Gisbert, Fernando Rodríguez-Franco, G Rossi, G Rossi, IE Koutroubakis, JE Fogle, JJ Ceron, José Cerón, JS Suchodolski, JS Suchodolski, K Allenspach, K Allenspach, Karin Allenspach, KS Swanson, KW Simpson, L Kaufman, M Castillo, M García-Sancho, M Krzystek-Korpacka, M Nofrarías, M Roca, M Volkmann, MA Murphy, Marta Cerdà-Cuéllar, MT Collins, N Luckschander, O Erel, P Souich du, PG Xenoulis, RJ Washabau, S Martinez-Subiela, Sergi Segarra, Silvia Martínez-Subiela, TM McCann, VL Cabral, Y Minamoto, Y You   +51 more
core   +6 more sources

Exploring the Relationship Between MDM4 Gene Polymorphisms (rs1380576 and rs4245739) and Breast Cancer Susceptibility in Bangladesh: A Case–Control Study

Journal of Clinical Laboratory Analysis, EarlyView.
Our findings indicated that the rs4245739 A>C polymorphism was not associated with BC risk in the Bangladeshi population, whereas the rs1380576 C>G polymorphism was significantly associated with BC risk. This study provides new insights into the genetic factors influencing breast cancer susceptibility in the Bangladeshi population, highlighting the ...
J. M. Aousiful Islam, Sharif Ahamed, Shafiqul Islam, M. Mahboob Hossain, Md Sadbean Hossain, Md. Shaki Mostaid, Md. Rabiul Islam, Md. Aminul Haque   +7 more
wiley   +1 more source

Strains of Spodoptera frugiperda (J.E.Smith) (Noctuidae) in the states of Paraná and São Paulo, Brazil

EntomoBrasilis, 2020
Two strains of Spodoptera frugiperda (J.E. Smith) were first described in the United States; in Brazil, in the states of Rio Grande do Sul, Mato Grosso, and western Paraná they have also been reported. This study was aimed at identifying these strains in
Francielly Silveira Richardt, Adriana Micheli, Daniele Tasior, Elderson Ruthes, Luís Amilton Foerster   +4 more
doaj   +1 more source

Genetic diversity of Cryptosporidium spp. in captive reptiles [PDF]

, 2004
The genetic diversity of Cryptosporidium in reptiles was analyzed by PCR-restriction fragment length polymorphism and sequence analysis of the small subunit rRNA gene.
Xiao, L., Ryan, U.M., Graczyk, T.K., Limor, J., Li, L., Kombert, M., Junge, R., Sulaiman, I., Zhou, L., Arrowood, M.J., Koudela, B., Modry, D., Lal, A.A.   +12 more
core   +2 more sources

Study of genetic variation of myostatin (MSTN) and calpastatin (CAST) genes in two native Iraqi sheep by PCR-RFLP technique [PDF]

Iraqi Journal of Veterinary Sciences
The study aimed to research the genetic variation of the Awassi and Naimi sheep breeds using the two genes myostatin (MSTN) and calpastatin (CAST).
Hayder R. Alnajm, Zeyad K. Imari, Talib A. Al-Rubeaye   +2 more
doaj   +1 more source