Results 121 to 130 of about 84,866 (259)

Mitochondrial stress in advanced fibrosis and cirrhosis associated with chronic hepatitis B, chronic hepatitis C, or nonalcoholic steatohepatitis

Hepatology, EarlyView., 2022
Adaptive mitochondrial mechanisms allow mitochondrial resilience and prevent the worsening of fibrosis, while deregulation of these mechanisms promotes the progression from no/minimal‐mild (F0‐F2) fibrosis to advanced fibrosis and cirrhosis (F3‐F4). Abstract Background and Aims Hepatitis B virus (HBV) infection causes oxidative stress (OS) and alters ...
Dimitri Loureiro, Issam Tout, Stéphanie Narguet, Cheikh Mohamed Bed, Morgane Roinard, Ahmad Sleiman, Nathalie Boyer, Nathalie Pons‐Kerjean, Corinne Castelnau, Nathalie Giuly, Dorothy Tonui, Vassili Soumelis, Jamel El Benna, Patrick Soussan, Richard Moreau, Valérie Paradis, Abdellah Mansouri, Tarik Asselah   +17 more
wiley   +1 more source

SmellyCode++: Multi-Label Dataset for Code Smell Detection. [PDF]

Sci Data
Alomari N, Alazba A, Aljamaan H, Alshayeb M.   +3 more
europepmc   +1 more source

The Impact of Karyotype on Congenital Heart Diseases in Turner Syndrome: A Systematic Review and Meta‐Analysis

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT It is evident that Turner syndrome (TS) impacts almost all developmental stages of the fetal heart with congenital heart disease (CHD) being seen in 23%–50% of individuals. Although the spectrum of CHDs in TS is well‐established, with left‐sided lesions predominating, the influence of specific karyotypes on the prevalence and types of CHDs ...
Francisco Álvarez‐Nava, Melissa L. Crenshaw, Ivonne Bedei, Marisol Soto, Andréa T. Maciel‐Guerra, Anne Skakkebæk   +5 more
wiley   +1 more source

Overcoming limitations to customize DeepVariant for domesticated animals with TrioTrain. [PDF]

Genome Res
Kalleberg J, Rissman J, Schnabel RD.
europepmc   +1 more source

Establishment of a humanized SCA2 mouse model carrying a CAA disruption preventing CAG repeat expansion in pathogenic genes

Animal Models and Experimental Medicine, EarlyView.
In this study, we established a mouse model in which CAG repeats do not undergo microsatellite instability (MSI) across generations. A humanized ATXN2 cDNA with four CAA interruptions within 73 CAG expansions was inserted into the Rosa26 locus of C57BL/6J mice. At the same time, a 23 CAG control mouse model was also generated.
Yao Zhang, Yufei Li, Lin Zhang, Zhaoqing Li, Keqin Lin, Kai Huang, Zhaoqing Yang, Shaohui Ma, Hao Sun, Xiaochao Zhang   +9 more
wiley   +1 more source

Indel calling from ONT sequencing data of family trios via sparse attention and 3D convolution. [PDF]

Brief Bioinform
Shi Y, Wu C, Luo S, Zhang S, Wang W, Li J.   +5 more
europepmc   +1 more source

Clinical and Molecular Genetic Characterization of Landau Kleffner Syndrome: An Observational Cohort and Experimental Study

Annals of Neurology, EarlyView.
Objective Landau–Kleffner syndrome (LKS), is a rare, poorly‐understood epileptic encephalopathy with spike–wave activation in sleep associated with mutations in GRIN2A, encoding the N‐Methyl‐D‐Aspartate receptor (NMDAR) GluN2A subunit. Physicians rely on empirical treatments, with scarce information on treatment efficacy and outcomes.
Adeline Ngoh, Maria Clark, Rebecca Greenaway, Xiumin Chen, Kimberley M. Reid, Katy Barwick, Esther Meyer, Dale Moulding, Natalie Trump, J. Helen Cross, Sean D. Fraser, Lachlan de Hayr, Dimitri M. Kullmann, Joseph W. Lynch, Robert J. Harvey, Manju A. Kurian   +15 more
wiley   +1 more source

Genome-wide prediction of dominant and recessive neurodevelopmental disorder-associated genes. [PDF]

Am J Hum Genet
Dhindsa RS, Weido BA, Dhindsa JS, Shetty AJ, Sands CF, Petrovski S, Vitsios D, Zoghbi AW.   +7 more
europepmc   +1 more source

Depression Polygenicity and Disease Activity and Disability Worsening in Multiple Sclerosis

Annals of Neurology, EarlyView.
Objective A better understanding of factors associated with multiple sclerosis (MS) disease activity and disability is needed. Given the strong link between comorbid depression and MS disease activity and disability, we aimed to determine whether the depression genetic burden, as modelled using its polygenic score, is associated with MS disease ...
Ali Manouchehrinia, Kathryn C. Fitzgerald, Amber Salter, Ruth Ann Marrie, Lars Alfredsson, Charles N. Bernstein, James M. Bolton, Gary Cutter, John D. Fisk, Lesley A. Graff, Carol A. Hitchon, Jan Hillert, Ingrid Kockum, Yi Lu, Fred D. Lublin, Kyla McKay, Tomas Olsson, Scott Patten, Amit Patki, Hayley Riel, Klementy Shchetynsky, Pernilla Stridh, Hemant K. Tiwari, Jerry S. Wolinsky, Kaarina Kowalec   +24 more
wiley   +1 more source

Selecting optimal software code descriptors-The case of Java. [PDF]

PLoS One
Bugayenko Y, Kholmatova Z, Kruglov A, Pedrycz W, Succi G.   +4 more
europepmc   +1 more source