Results 1 to 10 of about 2,822,760 (305)

Genetic variants of hepatitis B virus in patients with chronic hepatitis B

Журнал инфектологии, 2015
Introduction. Biological properties of virus, such as susceptibility to antivirals, the clinical course of chronic hepatitis B (CHB), the probability of developing cirrhosis and hepatocellular carcinoma are determined by genotype and mutations in the ...
E. A. Elpaeva, O. E. Nikitina, M. M. Pisareva, I. V. Shilova, V. A. Greshnjakova, M. P. Grudinin, O. I. Kiselev   +6 more
doaj   +1 more source

De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development [PDF]

, 2017
Bosma arhinia microphthalmia syndrome (BAMS) is an extremely rare and striking condition characterized by complete absence of the nose with or without ocular defects.
A Javed, A McKenna, A-V Gendrel, A-V Gendrel, Abdelaziz Sefiani, Alex C Magee, Alexandra D Gurzau, Asif Javed, Audrey S M Teo, AW Mould, Axel M Hillmer, B Brasseur, Bernd Wollnik, Bruno Reversade, C Bock, Camille Dion, Carine Bonnard, Chalermpong Chatdokmaiprai, Christine Bole-Feysot, Christopher T Gordon, Denise Williams, Dieter Meschede, Duangrurdee Wattanasirichaigoon, F Magdinier, Frédérique Magdinier, GA Van der Auwera, Gökhan Tunçbilek, Gökhan Yigit, H Coker, H Li, H Mishima, Hallvard Reigstad, Hicham Filali, HL Szabo-Rogers, Holger Thiele, Hülya Kayserili, IA Adzhubei, Ilham Ratbi, J Harrow, James M Murphy, Janine Altmüller, JB Tryggestad, JC de Greef, JD Thompson, JE Hewitt, Jeanne Amiel, JM Graham Jr., K Chen, K Chen, K Wang, Kelan Chen, Koh-ichiro Yoshiura, L-C Li, LA Kelley, M Tang, M-C Gaillard, M-C Gaillard, MA DePristo, Marnie E Blewitt, MD Nickell, ME Blewitt, Meriem Fikri, Michael L Cunningham, Mung Kei Kong, Myriam Oufadem, N Rosin, Nadine Rosin, Nawfal Fejjal, Nicola Ragge, Nicolas Lévy, NJ Brideau, Nobuhiko Okamoto, NS Verkaik, P Flicek, P Kumar, Patrick Nitschké, PE Forni, Peter Nürnberg, R Dutta, R-S Nozawa, Rachel Irving, RJLF Lemmers, RJLF Lemmers, RJLF Lemmers, Ruth McGowan, S Faisal Ahmed, S Sacconi, Sabine Sigaudy, Shifeng Xue, Siham Chafai Elalaoui, ST Sherry, Stanislas Lyonnet, Tamara J Beck, Vinod Varghese, Wolfgang Mühlbauer, X Liu, X Liu, X Robert   +97 more
core   +3 more sources

Mutagenesis and Functional Analysis of the Pore-Forming Toxin HALT-1 from Hydra magnipapillata

Toxins, 2015
Actinoporins are small 18.5 kDa pore-forming toxins. A family of six actinoporin genes has been identified in the genome of Hydra magnipapillata, and HALT-1 (Hydra actinoporin-like toxin-1) has been shown to have haemolytic activity.
Yvonne Jing Mei Liew, Wai Tuck Soh, William Febry Jiemy, Jung Shan Hwang   +3 more
doaj   +1 more source

A New Way to Trace SARS-CoV-2 Variants Through Weighted Network Analysis of Frequency Trajectories of Mutations

Frontiers in Microbiology, 2022
Early detection of SARS-CoV-2 variants enables timely tracking of clinically important strains in order to inform the public health response. Current subtype-based variant surveillance depending on prior subtype assignment according to lag features and ...
Qiang Huang, Qiang Zhang, Paul W. Bible, Qiaoxing Liang, Fangfang Zheng, Ying Wang, Yuantao Hao, Yu Liu   +7 more
doaj   +1 more source

A new targeted CFTR mutation panel based on next-generation sequencing technology [PDF]

, 2017
Searching for mutations in the cystic fibrosis transmembrane conductance regulator gene (CFTR) is a key step in the diagnosis of and neonatal and carrier screening for cystic fibrosis (CF), and it has implications for prognosis and personalized therapy ...
Alberti, Luisella, Biffignandi, Alice, Bruno, Sabina Maria, Colombo, Carla, Corbetta, Carlo, Costantino, Lucy, Giannone, Valentina, Lucarelli, Marco, Porcaro, Luigi, Seia, Manuela, Torresani, Erminio   +10 more
core   +2 more sources

Hereditary alpha-tryptasemia and monoclonal mast cell disorders

Frontiers in Allergy
Monoclonal mast cell disorders (mMCD), including systemic mastocytosis, are characterized by the abnormal accumulation of clonal mast cells, often leading to elevated baseline serum tryptase (bST) levels. Thus, bST evaluation is useful for the diagnosis,
Yannick Chantran, Yannick Chantran, Yannick Chantran, Michel Arock, Michel Arock   +4 more
doaj   +1 more source

Mutational analysis of DAX1 in patients with hypogonadotropic hypogonadism or pubertal delay [PDF]

, 1999
Although delayed puberty is relatively common and often familial, its molecular and pathophysiologic basis is poorly understood. In contrast, the molecular mechanisms underlying some forms of hypogonadotropic hypogonadism (HH) are clearer, following the ...
Achermann, JC, Bick, DP, Crowley, WF, Gu, WX, Habiby, RL, Hindmarsh, PC, Jameson, JL, Kotlar, TJ, Layman, LC, Meeks, JJ, Sabacan, LP, Seminara, SB, Sherins, RJ   +12 more
core   +1 more source

Creation and Validation of the Major Pediatric Mitochondrial Cytopathies Minimum Data Set: Consensus from a Moroccan–Tunisian Delphi Study

Children
Background: Pediatric mitochondrial cytopathies (MCs) are rare, multisystemic, and heterogeneous disorders that require harmonized collection of clinical, biochemical, and genetic data to better understand their natural history, optimize patient care ...
Sara El Guessabi, Jihane Belayachi, Ilhem Ben Youssef Turki, Ichraf Kraoua, Said Galai, Hind Lachraf, Ilham Ratbi, Redouane Abouqal, Yamna Kriouile   +8 more
doaj   +1 more source

Adaptation to high ethanol reveals complex evolutionary pathways [PDF]

, 2015
Tolerance to high levels of ethanol is an ecologically and industrially relevant phenotype of microbes, but the molecular mechanisms underlying this complex trait remain largely unknown.
Arslan, Ahmed, Das, Anupam, De Maeyer, Dries, DeLuna, Alexander, Espinosa-Cantú, Adriana, Jelier, Rob, Kominek, Jacek, Marchal, Kathleen, Meert, Wim, van der Zande, Elisa, Van Noort, Vera, Van Pee, Michiel, Verstrepen, Kevin J, Voordeckers, Karin, Yang, Yudi, Zhu, Bp   +15 more
core   +4 more sources

Mutational landscape of epidermoid carcinoma of the penis in a Brazilian cohort [PDF]

Exploration of Targeted Anti-tumor Therapy
Aim: Penile cancer (PeCa) is a rare malignancy strongly associated with poor genital hygiene and is more prevalent in regions with low socioeconomic status.
Renato Mendes Rossi De Lucca, Danielle Barbosa Brotto, Claudia Tarcila Gomes Sares, Kelly Gomes Duarte, Wilson Araujo Silva Junior, Philippe E. Spiess, Shahrokh F. Shariat, Natália Dalsenter Avilez, Caio de Oliveira, Leonardo O. Reis, Rodolfo Borges dos Reis   +10 more
doaj   +1 more source