Results 41 to 50 of about 31,066 (241)

Metabolic Imbalance Triggers Adaptive Remodeling to Accelerate Diploidization in Murine Haploid Embryonic Stem Cells

Advanced Science, EarlyView.
In this article, Shuai and colleagues demonstrate that metabolic remodeling drives self‐diploidization in murine haploid ESCs (haESCs). Mitochondrial dysfunction and imbalanced pyruvate metabolism underlie this process. Genome‐wide screening using haESCs identifies key mitochondrial quality‐control related genes, enabling a metabolism‐based medium that
Yi Fu, Wenhao Zhang, Yifan Zhang, Yu He, Yi Du, Yiding Zhao, Chunmeng Yao, Shengyi Sun, Xiaoyan Sheng, Qian Gao, Chao Tong, Ling Shuai   +11 more
wiley   +1 more source

Resultados obtidos de uma amostra de pacientes estudados por hibridização genômica comparativa por chips de oligonucleotídeos (cgh array) em Santa Catarina: análise dos fatores: indicação, taxa diagnóstica e aplicabilidade. [PDF]

, 2013
TCC(graduação) - Universidade Federal de Santa Catarina. Centro de Ciências Biológicas. Biologia.No Brasil, de acordo com o Censo 2010, 1,37% da população brasileira apresenta deficiência intelectual.
Anselmi, Mayara
core  

Scene‐Customized Learning for Multi‐Depth 3D Phase‐Only Hologram Generation

Advanced Intelligent Systems, EarlyView.
 Scene‐customized geometric modeling constructs GM‐4K, a controllable 4K RGB‐D dataset for learning‐based multi‐depth hologram generation. By tuning intensity spectra and depth‐region sampling, the dataset reveals how training‐data statistics affect phase‐only hologram encoding and supports a spectral test framework for evaluating model generalization ...
Yanan Zhang, Jiaqi Li, Tao Jing, Yang Yu, Yang Zhang, Xingpeng Yan   +5 more
wiley   +1 more source

Análise de CNVs e indicação clínica em indivíduos com deficiência intelectual e outros distúrbios do desenvolvimento diagnosticados por CGH array [PDF]

, 2015
Dissertação (mestrado) - Universidade Federal de Santa Catarina, Centro de Ciências Biológicas, Programa de Pós-Graduação em Biologia Celular e do Desenvolvimento, Florianópolis, 2015.A deficiência intelectual (DI) é caracterizada por limitações ...
Baretto, Nathacha
core  

Phenotype Expansion of Malan Syndrome: New Cases and a Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Malan syndrome is an ultra‐rare overgrowth syndrome caused by pathogenic variants or deletions in nuclear factor one X (NFIX) located at 19p13.2. Here, we report a comprehensive literature review and phenotyping of known patients with Malan syndrome and present a novel cohort of eight patients.
Alex F. Nisbet, Sylvie A. Adams, Zoe S. Katz, Christal G. Delagrammatikas, Kosuke Izumi, Winifred Sigal, Kim Ventarola, Elaine H. Zackai, Julia E. Reid, Grant T. Liu, Jennifer M. Kalish   +10 more
wiley   +1 more source

Design and Fabrication of CGH for 600mm diameter SiC primary mirror surface figure testing

, 2016
Computer-generated hologram (CGH) is an effective way to compensate wavefront aberration in null test of aspheric surfaces and freeform surfaces. Our strategies of CGH design for 600mm diameter SiC primary mirror surface figure testing are presented ...
Ma Zhen, Zou Gangyi, Fan Xuewu, Pang Zhihai, Pang, ZH (reprint author), Chinese Acad Sci, Xian Inst Opt & Precis Mech, Space Opt Lab, Xian 710119, Shanxi, Peoples R China.   +4 more
core   +1 more source

A new approach for the analysis of bacterial microarray-based Comparative Genomic Hybridization: insights from an empirical study

BMC Genomics, 2005
Background Microarray-based Comparative Genomic Hybridization (M-CGH) has been used to characterize the extensive intraspecies genetic diversity found in bacteria at the whole-genome level.
Findlay Wendy A, Luebbert Christian C, Acedillo Rey R, Taboada Eduardo N, Nash John HE   +4 more
doaj   +1 more source

Tracking financing for global common goods for health: A machine learning approach using natural language processing techniques

Frontiers in Public Health, 2022
ObjectiveTracking global health funding is a crucial but time consuming and labor-intensive process. This study aimed to develop a framework to automate the tracking of global health spending using natural language processing (NLP) and machine learning ...
Siddharth Dixit, Wenhui Mao, Kaci Kennedy McDade, Marco Schäferhoff, Osondu Ogbuoji, Gavin Yamey   +5 more
doaj   +1 more source

De Novo Complex Genomic Rearrangement Spanning 2q31.1 in a Proband With Congenital Malformations: Genotype–Phenotype Correlation and Development of a CGR Detection Pipeline

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The 2q31 region is commonly associated with pathogenic alleles of the HOXD cluster leading to various clinical phenotypes related to skeletal development. We present a proband with tetralogy of Fallot and multiple congenital anomalies. Genomic variant screening including an in‐house CGR detection pipeline pairing genome sequencing (GS ...
Katherine Helle, Jesse D. Bengtsson, Mira Gandhi, Christopher M. Grochowski, Ming Yin Lun, Neha Sudhir, Shalini N. Jhangiani, Fritz J. Sedlazeck, Seema R. Lalani, Neil A. Hanchard, Claudia M. B. Carvalho   +10 more
wiley   +1 more source

High‐Resolution Genomic Characterization of WAGR Spectrum Disorder: Insights From a Novel Cohort and Literature Synthesis, and Validation of Patient‐Reported Data

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT WAGR spectrum disorder (WAGRSD) is an ultra‐rare congenital disorder caused by heterozygous deletion of chromosome 11p13. While classically associated with Wilms tumor, Aniridia, Genitourinary anomalies, and a Range of developmental delays, accurate delineation of the deletion is critical for prognosis because the phenotypic spectrum extends ...
Andrew M. George, Bamelak T. Duki, Zoe S. Katz, Aravind Viswanathan, Suzanne P. MacFarland, Evan R. Hathaway, Caitlin Monahan, John Morris, Kelly L. Trout, Shari M. Krantz, Arupa Ganguly, Jennifer M. Kalish   +11 more
wiley   +1 more source