Results 21 to 30 of about 181,308 (201)

pedigree

, 2014
This is the reconstructed pedigree associated with all individuals in the phenotype ...
Géraldine Loot (3244239), David James Páez (3244242), Elise Mazé-Guilmo (3244236), Páez, David James, Lefèvre, Thierry, Mazé-Guilmo, Elise, Loot, Géraldine, Blanchet, Simon, Simon Blanchet (92497), Thierry Lefèvre (63585)   +9 more
core   +1 more source

Characterization of the key membrane protein cytochrome Cyc2 from Ghiorsea bivora

FEBS Open Bio, EarlyView.
This study reports the first detailed biochemical analysis of Cyc2TAG1_1, a cytochrome protein involved in microbial iron oxidation. We produced and purified this enzyme in E. coli, then measured its iron‐oxidizing efficiency, and characterized its electrical and structural properties.
Josiane Azizi, Alain Dolla, Frauke Baymann, Celine Rommevaux, Latifa Elantak, Helene Gaussier, Matthieu Nouailler   +6 more
wiley   +1 more source

Surface modification of 3D‐printed polycaprolactone scaffolds with silk fibroin for bone tissue engineering

FEBS Open Bio, EarlyView.
Coating 3D‐printed PCL scaffolds with silk fibroin can improve biocompatibility and bone cell adhesion. One innovative design for tissue‐engineering scaffolds uses 3D printing technology. Here, we used polycaprolactone (PCL) filament as a biocompatible material to design a porous 3D scaffold for bone tissue engineering.
Hamed Koeini, Esmaeil Biazar, Davood Zaeifi, Reza Zeinali, Saeed Heidari‐Keshel, Amimasoud Hassanour, Helia Saheli, Arezou Mehrabi   +7 more
wiley   +1 more source

Chronobiology of Cancer: How Aging Fuels Oncogenesis at the Molecular Level

Aging and Cancer, EarlyView.
This graphical abstract illustrates the key biological pathways linking aging with cancer development and progression. In the upper left, cumulative exposure to ultraviolet radiation, toxins, and reactive oxygen species (ROS) causes DNA damage and genomic instability, whereas age‐related decline in repair mechanisms, such as ATM/ATR, BER, and NER ...
Anu Singh, Aroonima Misra, Sufian Zaheer
wiley   +1 more source

RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Mitochondrial diseases are the most common inherited metabolic disorders, characterized by pronounced clinical and genetic heterogeneity that complicates molecular diagnosis. Although DNA‐based sequencing approaches have become standard in genetic testing, up to half of patients remain without a definitive diagnosis.
Zhimei Liu, Xin Duan, Fatemeh Peymani, Jia Wang, Chengjia Bao, Chaolong Xu, Ying Zou, Zixuan Zhang, Yunxi Zhang, Tongyue Li, Martin Pavlov, Junling Wang, Minhan Song, Tianyu Song, Xiaodi Han, Mingxi Sun, Danmin Shen, Ruoyu Duan, Huafang Jiang, Manting Xu, Holger Prokisch, Fang Fang   +21 more
wiley   +1 more source

Pedigree

, 2013
Pedigree of the population from the base population up to generation 31 of the selection ...
Vincent Careau (2853758), Wolak, Matthew E., Patrick A. Carter (3248541), Theodore Garland Jr. (350095), Carter, Patrick A., Garland Jr., Theodore, Matthew E. Wolak (3198225), Careau, Vincent   +7 more
core   +1 more source

Early Clinical, Imaging, and Pathological Characteristics of SRPK3/TTN‐Digenic Myopathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective SRPK3/TTN‐digenic myopathy was recently established as a skeletal muscle myopathy caused by digenic inheritance. This study characterizes the early clinical presentation of SRPK3/TTN‐digenic myopathy in one previously reported and seven newly identified pediatric patients.
Rotem Orbach, Sandra Donkervoort, Carola Hedberg‐Oldfors, Giovanni Baranello, Dimah Saade, Precilla D'Souza, Ruchee Patel, Eva Michael, A. Reghan Foley, Diana Bharucha‐Goebel, S. Jin Haugland, Meghan McAnally, Omer Abdul Hamid, Katherine Chao, Ellen F. Macnamara, Alan H. Beggs, Anna Sarkozy, Juliane Mueller, Steven A. Moore, Richard S. Finkel, Cynthia J. Tifft, Francesco Muntoni, Anders Oldfors, Carsten G. Bönnemann   +23 more
wiley   +1 more source

Sertraline Treatment Can Mimic Niemann‐Pick Type C Biomarker Profile: A Diagnostic Pitfall

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Oxysterols (cholestane‐3β,5α,6β‐triol and 7‐ketocholesterol) and N‐palmitoyl‐O‐phosphocholineserine (PPCS) are sensitive biomarkers for Niemann‐Pick disease type C (NPC) screening. However, false‐positive results occur, with a biomarker profile suggestive of NPC despite the absence of pathogenic variants in genes involved in NPC or ...
Maria Makrygianni, Cecile Pagan, Antony Citterio‐Quentin, Isabelle Rouvet, Giulia Dingeo, Cyril Hanin, Claudine Laurent‐Levinson, Samia Pichard, Bénédicte Héron, Clément Gourguechon, Daniele Mandia, Jerome Guitton, Carole Lacout, Nicolas Schleinitz, Florient Potier, Olivier Flabeau, Elsa Besse‐Pinot, Foudil Lamari, Magali Pettazzoni, Yann Nadjar   +19 more
wiley   +1 more source

Region Specific miRNA–mRNA Networks in Gray and White Matter Lesions of Progressive Multiple Sclerosis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Multiple sclerosis (MS) is a neurodegenerative demyelinating disease of the central nervous system. This study aimed to identify micro‐RNA (miRNA)–mRNA regulatory networks underlying region‐specific molecular mechanisms in white matter and gray matter lesions in progressive MS.
Adya Sapra, Nagendra K. Rai, Timothy D. Niepokny, Haley Courtney, Ajai Tripathi, Ranjan Dutta   +5 more
wiley   +1 more source

Pedigree error due to extra-pair reproduction substantially biases estimates of inbreeding depression [PDF]

, 2013
Understanding the evolutionary dynamics of inbreeding and inbreeding depression requires unbiased estimation of inbreeding depression across diverse mating systems.
Arcese, Peter, Nietlisbach, Pirmin, Reid, Jane M, Keller, Lukas F, Sardell, Rebecca J, Reid, Jane M., Marr, Amy B, Marr, Amy B., Keller, Lukas F., Sardell, Rebecca J.   +9 more
core   +1 more source