Results 61 to 70 of about 286,600 (201)
A map of human genome sequence variation containing 1.42 million single nucleotide polymorphisms
Nature, 2001 Ravi Sachidanandam, D. Weissman, S. Schmidt, Jerzy M. Kakol, Lincoln Stein, Gabor T. Marth, Stephen T. Sherry, J. Mullikin, B. Mortimore, D. Willey, S. Hunt, Charlotte G. Cole, Penny Coggill, C. Rice, Zemin Ning, J. Rogers, D. R. Bentley, Pui-Yan Kwok, E. Mardis, Raymond T. Yeh, Brian Schultz, L. Cook, R. Davenport, M. Dante, L. Fulton, L. Hillier, Robert H. Waterston, J. D. Mcpherson, Brian C. Gilman, Stephen F. Schaffner, W. V. Etten, David Reich, J. Higgins, Mark J. Daly, B. Blumenstiel, J. Baldwin, N. Stange-thomann, M. Zody, L. Linton, Eric S. Lander, D. Altshuler +40 moresemanticscholar +1 more sourceMolecular Profiling of Genes Associated With Methylphenidate Pathway Therapy and Discovery of New Variants in Amazonian Amerindian Populations
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.ABSTRACT
In Attention Deficit Hyperactivity Disorder (ADHD), methylphenidate is one of the most widely used drugs, in which patient response significantly impacts prognosis. This study aimed to characterize the molecular profile of 10 genes associated with methylphenidate therapy.Aline Pasquini Santos, Tatiane Carinta de Souza, Kaio Evandro Cardoso Aguiar, Ana Caroline Alves da Costa, Natasha Monte, Juliana Carla Gomes Rodrigues, Giovanna Gilioli da Costa Nunes, Rita de Cássia Calderaro Coelho, Ândrea Ribeiro‐dos‐Santos, André Maurício Ribeiro dos Santos, Sandro José de Souza, Sidney Emanuel Batista dos Santos, Rommel Mario Rodriguez Burbano, Marianne Rodrigues Fernandes, Ney Pereira Carneiro dos Santos +14 morewiley +1 more sourceNAFLD‐related hepatocellular carcinoma: The growing challenge
Hepatology, EarlyView., 2022 Risk and protective factors for NAFLD‐related hepatocellular carcinoma Abstract
Hepatocellular carcinoma (HCC) is a common cause of cancer‐related mortality and morbidity worldwide. With the obesity pandemic, NAFLD‐related HCC is contributing to the burden of disease exponentially.Pir Ahmad Shah, Rashmee Patil, Stephen A. Harrison +2 morewiley +1 more sourceGenome‐Wide Association Study of Symptom Change Following Cognitive Behavioral Therapy for Common Mental Disorders
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.ABSTRACT
Cognitive behavioral therapy (CBT) is a well‐established, evidence‐based treatment for common mental disorders such as depression, anxiety disorders, and obsessive‐compulsive disorder (OCD). However, treatment outcomes vary widely, and a substantial proportion of patients do not achieve sufficient improvement.Julia Bäckman, Olly Kravchenko, Matthew Halvorsen, Elles de Schipper, Ekaterina Ivanova, Viktor Kaldo, Nils Hentati Isacsson, Thorstein Olsen Eide, Kira D. Höffler, Manuel Mattheisen, Bjarne Hansen, Gerd Kvale, Kristen Hagen, Jan Haavik, David Mataix‐Cols, James J. Crowley, John Wallert, Christian Rück, Nordic OCD and Related Disorders Consortium (NORDiC), Julia Bäckman, Long‐Long Chen, James J. Crowley, Elles de Schipper, Diana Pascal, Jan Haavik, Kristen Hagen, Matthew W. Halvorsen, Bjarne Hansen, Kira D. Höffler, Fredrik Johansson, Anna K. Kähler, Elinor K. Karlsson, Gerd Kvale, Paul Lichtenstein, Kerstin Lindblad‐Toh, Manuel Mattheisen, David Mataix‐Cols, Kathleen Morrill, Christian Rück, Thorstein Olsen Eide, Nora I. Strom, John Wallert +41 morewiley +1 more sourcePhase Ib study of anlotinib combined with TQB2450 in pretreated advanced biliary tract cancer and biomarker analysis
Hepatology, EarlyView., 2022 Phase 1b study of anlotinib combined with TQB2450 in pretreated advanced biliary tract cancer and biomarker analysis. Abstract Background and Aims
We evaluated the efficacy and safety of the antiangiogenic tyrosine kinase inhibitor anlotinib plus TQB2450, a programmed death‐ligand 1 inhibitor in pretreated advanced biliary tract cancers (BTCs ...Jun Zhou, Yongkun Sun, Wen Zhang, Jiajia Yuan, Zhi Peng, Wei Wang, Jifang Gong, Lin Yang, Yanshuo Cao, Hong Zhao, Chao Chen, Weifeng Wang, Lin Shen, Aiping Zhou +13 morewiley +1 more sourceExpanding the Genotype–Phenotype Correlation of Marden–Walker Syndrome due to PIEZO2 Gene Variants: A Case Report From Brazil
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT
Marden–Walker syndrome (MWS; OMIM 248700) is an extremely rare congenital disorder characterized by multiple joint contractures, craniofacial dysmorphism, neurological abnormalities, and multisystem involvement. Although historically diagnosed on clinical grounds, only a few cases have been molecularly confirmed.Guilherme Sotto Battiston, Carolina de Souza Araujo, Fernanda Araujo Romera, André Luis Ferreira, Érica Trovisco Martins, Carolina Galhós de Aguiar, José Eduardo Mourão Santos, Rodrigo Ragazzini, Daniela Testoni Costa‐Nobre, Ana Claudia Yoshikumi Prestes, Allan Chiaratti de Oliveira, Eduardo Perrone, Débora Gusmão Melo, Anne Caroline Barbosa Teixeira, Antonio Victor Campos Coelho, Caio Robledo D’Angioli Costa Quaio, Carolina Araujo Moreno, Eduardo Perrone, Jose Bandeira do Nascimento Junior, Jessica Grasiela Araujo Espolaor, Joana Rosa Marques Prota, Joao Bosco de Oliveira Filho, Jose Ricardo Magliocco Ceroni, Kelin Chen, Letícia Torres Ferreira, Lucas Santos de Santana, Luciana Souto Mofatto, Luiza do Amaral Virmond, Marina de Franca Basto Silva, Michele Patricia Migliavacca, Renata Moldenhauer Minillo, Renata Yoshiko Yamada, Roberta Sitnik, Tatiana Ferreira de Almeida, Thiago Yoshinaga Tonholo Silva, Vivian Pedigone Cintra +35 morewiley +1 more sourceMapping quantitative trait loci underlying body weight changes that act at different times during high‐fat diet challenge in collaborative cross mice
Animal Models and Experimental Medicine, EarlyView.Over one billion people worldwide suffer from obesity, and the number is continually rising. Animal models, especially mouse models, are crucial to identifying the genetic components of complex disorders and exploring the potential applications of these genetic findings.Hanifa J. Abu‐Toamih Atamni, Iqbal M. Lone, Ilona Binenbaum, Kareem Midlej, Eleftherios Pilalis, Richard Mott, Aristotelis Chatziioannou, Fuad A. Iraqi +7 morewiley +1 more sourceGenetic predisposition to porto‐sinusoidal vascular disorder: A functional genomic‐based, multigenerational family study
Hepatology, EarlyView., 2022 A deleterious variant of FCHSD1 results in mTOR pathway overactivation and may cause porto‐sinusoidal vascular disorder (PSVD). The pedigree of the family demonstrated an autosomal dominant disease with variable expressivity. Whole‐genome sequencing and Sanger sequencing both validated the existence of the FCHSD1 variant and the heterozygosity of c ...Jingxuan Shan, André Megarbane, Aziz Chouchane, Deepak Karthik, Ramzi Temanni, Atilio Reyes Romero, Huiying Hua, Chun Pan, Xixi Chen, Murugan Subramanian, Chadi Saad, Hamdi Mbarek, Cybel Mehawej, Eliane Chouery, Sirin W. Abuaqel, Alexander Dömling, Sami Remadi, Cesar Yaghi, Pu Li, Lotfi Chouchane +19 morewiley +1 more source
