Results 231 to 240 of about 157,765 (267)

A Novel Transcriptional Slippage Mechanism Rescues Dystrophin Expression from a DMD Frameshift Variant

Annals of Neurology, EarlyView.
Pathogenic DMD variants usually follow the reading‐frame rule: out‐of‐frame changes cause Duchenne muscular dystrophy, whereas in‐frame ones produce Becker muscular dystrophy (BMD). We report a 23‐year‐old man with BMD‐like weakness, calf hypertrophy, elevated creatine kinase, and dilated cardiomyopathy.
Hiroya Naruse, Jun Mitsui, Akatsuki Kubota, So Okubo, Shuichiro Mitsuchi, Kensho Sumi, Shuichi Tanifuji, Shogo Komaki, Asuka Kitamura, Meiko Maeda, Daiki Yashita, Atsushi Sudo, Takashi Matsukawa, Masashi Hamada, Wataru Satake, Shoji Tsuji, Tatsushi Toda   +16 more
wiley   +1 more source

Molecular Dating of the Teleost Whole Genome Duplication (3R) Is Compatible With the Expectations of Delayed Rediploidization. [PDF]

Genome Biol Evol
Qi M, Clark J, Moody ERR, Pisani D, Donoghue PCJ.   +4 more
europepmc   +1 more source

Understanding Neurodegenerative Diseases From the −Omics Perspective: Lessons Learnt

Annals of Neurology, EarlyView.
As the population ages, certain neurodegenerative diseases (NDs) are becoming a major health issue. For this reason, this review will focus on the most common ND with onset after 65 years old; Alzheimer's disease, Parkinson's disease, Lewy body dementia, and frontotemporal dementia.
Laura Ibanez, Cyril Pottier, Aleksandra Beric, Daniel Western, Muhammad Ali, Carlos Cruchaga   +5 more
wiley   +1 more source

Genomic Structural Variations Provide Insights Into Litter Size and Teat Number Traits in Hu Sheep

Animal Research and One Health, EarlyView.
Here, we conducted whole genome sequencing on 300 Hu sheep with an average depth of 16.51X. Two candidate genes associated with litter size and teat number traits were identified, namely MAST2 and AFDN. ABSTRACT Litter size and the teat number are important economic indicators in sheep production.
Xin Xiang, Wei Dai, Jiqiang Liu, Zhengguang Wang   +3 more
wiley   +1 more source

wgd v2: a suite of tools to uncover and date ancient polyploidy and whole-genome duplication. [PDF]

Bioinformatics
Chen H, Zwaenepoel A, Van de Peer Y.
europepmc   +1 more source

Diagnostic Implications and Correlates of Plasma Adenosine Deaminase 2 Activity and ADA2 Variants

Arthritis &Rheumatology, EarlyView.
Objective Deficiency of adenosine deaminase 2 (DADA2) is a monogenic autoinflammatory disease manifested as polyarteritis nodosa, stroke, and bone marrow failure. Leveraging an international cohort of 200 DADA2 cases, we aimed to characterize the diagnostic utility of a plasma ADA2 enzyme activity assay and understand the implications of residual ADA2 ...
Jian Yue, Courtney E. LeSon, Casey A. Rimland, Kailey Brodeur, Rachel Weng, Evan E. Hsu, Michael T. Lam, Manpreet Meyer, Seigo Okada, Andrew L. D. Hsu, Musaab A. Alhezam, Megan M. Perron, Olha Halyabar, Fatma Dedeoglu, Peter A. Nigrovic, Akiko Shimamura, R. Grant Rowe, Megan A. Cooper, Tiphanie P. Vogel, Miriah Gillispie‐Taylor, Rosemary Peterson, Clara Lin, Katherine D. Nowicki, Kaylee Dollerschell, Taizo A. Nakano, Roxane Labrosse, Alexis‐Virgil Cochino, Andreea Ioan, Leonardo Oliveira Mendonca, Samar Freschi Barros, Jorge Kalil, Javier Perez‐Rojas, Alicia Diaz‐Kuan, Eric S. Sobel, Taha Moussa, Samuel Shang Ming Lee, Li Wearn Koh, Archana Khan, Sodality Sutnga, Raju Khubchandani, Walaa Shoman, Yasmine El Chazli, Benzeeta Pinto, Chengappa Kavadichanda, Roshini S. Abraham, Xiangwei Sun, Qing Zhou, Gsrsnk Naidu, Aman Sharma, Carl Esperanzate, Daniel L. Kastner, Ivona Aksentijevich, Susan J. Kelly, Michael Hershfield, Teresa K. Tarrant, Pui Y. Lee   +55 more
wiley   +1 more source

Sustained ERK signaling promotes G2 cell cycle exit and primes cells for whole-genome duplication. [PDF]

Dev Cell
Guerrero Zuniga A, Aikin TJ, McKenney C, Lendner Y, Phung A, Hook PW, Meltzer A, Timp W, Regot S.   +8 more
europepmc   +1 more source

Metabolic fate of drugs of abuse and new psychoactive substances: A pilot study on a novel workflow using a zebrafish embryo model combined with human microdosing

British Journal of Clinical Pharmacology, EarlyView.
Aim The aim of this study was to develop a novel workflow to identify human urine biomarkers for drugs of abuse and new psychoactive substances. Metabolites of amphetamine, cocaine, LSD, MDMA, methamphetamine, THC, MDMB‐CHMICA, and MDPPP were first identified in a zebrafish embryo (ZE) metabolism study followed by comparison to most abundant human ...
Simon K. Wellenberg, Tanja M. Gampfer, Lea Wagmann, Philip Schippers, Jennifer Herrmann, Rolf Müller, Folker Westphal, Markus R. Meyer   +7 more
wiley   +1 more source

Mapping molluscan endocrinology: a systematic and critical appraisal

Biological Reviews, EarlyView.
ABSTRACT Historically, a vertebrate‐centric paradigm has framed our interpretation of molluscan endocrinology, with considerable research focusing on vertebrate‐type steroid hormones (e.g. oestrogens, testosterone). However, contradictory evidence on the occurrence of vertebrate‐type steroid hormones in molluscan tissues, and a lack of the specific ...
Konstantinos Panagiotidis, Thomas H. Miller, Olwenn V. Martin, Alice Baynes   +3 more
wiley   +1 more source

Whole Genome Duplication Events Likely Contributed to the Aquatic Adaptive Evolution of Parkerioideae. [PDF]

Plants (Basel)
Wang M, Zhang R, Shu JP, Zheng XL, Wu XY, Chen JB, Wang MN, Shen H, Yan YH.   +8 more
europepmc   +1 more source