Results 101 to 110 of about 72,058 (269)

Whole-exome sequencing and digital PCR identified a novel compound heterozygous mutation in the NPHP1 gene in a case of Joubert syndrome and related disorders

BMC Medical Genetics, 2017
Background Joubert syndrome and related disorders (JSRD) is a clinically and genetically heterogeneous condition with autosomal recessive or X-linked inheritance, which share a distinctive neuroradiological hallmark, the so-called molar tooth sign.
Shingo Koyama, Hidenori Sato, Manabu Wada, Toru Kawanami, Mitsuru Emi, Takeo Kato   +5 more
doaj   +1 more source

Mapping the Non‐Canonical Splicing Variants: Decrypting the Hidden Genetic Architecture of Idiopathic Male Infertility

Advanced Science, EarlyView.
This study highlights the significance of non‐canonical splicing variants in male infertility, a factor often overlooked during the analysis of high‐throughput sequencing data. Incorporating the non‐canonical splicing variants prioritization in the genetic analysis pipeline will increase the genetic diagnosis of patients with male infertility ...
Kuokuo Li, Yuge Chen, Dongdong Tang, Yuying Sheng, Xu Han, Hao Geng, Na Zhang, Zongliu Duan, Guanxiong Wang, Yang Gao, Rui Guo, Rong Hua, Zhiming Ding, Chuan Xu, Qunshan Shen, Zhen Yu, Bing Song, Mingrong Lv, Yuping Xu, Huan Wu, Ji Wu, Yunxia Cao, Xiaojin He   +22 more
wiley   +1 more source

Locations and patterns of meiotic recombination in two-generation pedigrees

BMC Medical Genetics, 2009
Background Meiotic crossovers are the major mechanism by which haplotypes are shuffled to generate genetic diversity. Previously available methods for the genome-wide, high-resolution identification of meiotic crossover sites are limited by the laborious
Roberson Elisha DO, Ting Jason C, Currier Duane G, Pevsner Jonathan   +3 more
doaj   +1 more source

The Importance of Being Imperfect: Structure and Function of Bacterial Amyloid

Advanced Science, EarlyView.
Functional bacterial amyloids such as CsgA and FapC have been widely studied to understand the relationship between aggregation and function. The recently solved structure of FapC reveals a Greek‐key motif in which extensive hydrogen bonding and packing interactions formed by residues in conserved imperfect repeats stabilize a β‐solenoid core.
Samuel Peña‐Díaz, Yanting Jiang, Zhefei Zhang, Anders Daugberg, Pedro Ferreira, Marcos López Hernández, Chandrika Mittal, Maria Joao Ramos, Jan Skov Pedersen, Morten Kam Dahl Dueholm, Cao Qin, Huabing Wang, Daniel E. Otzen   +12 more
wiley   +1 more source

IL‐31 levels correlate with pruritus in patients with cholestatic and metabolic liver diseases and is farnesoid X receptor responsive in NASH

Hepatology, EarlyView., 2022
IL‐31 levels correlate with pruritus in patients with cholestatic and metabolic liver diseases Abstract Background and Aims Pruritus is associated with multiple liver diseases, particularly those with cholestasis, but the mechanism remains incompletely understood.
Jun Xu, Ya Wang, Mina Khoshdeli, Matt Peach, Jen‐Chieh Chuang, Julie Lin, Wen‐Wei Tsai, Sangeetha Mahadevan, Wesley Minto, Lauri Diehl, Ruchi Gupta, Michael Trauner, Keyur Patel, Mazen Noureddin, Kris V. Kowdley, Aliya Gulamhusein, Christopher L. Bowlus, Ryan S. Huss, Robert P. Myers, Chuhan Chung, Andrew N. Billin   +20 more
wiley   +1 more source

Efficient path-based computations on pedigree graphs with compact encodings

BMC Bioinformatics, 2012
A pedigree is a diagram of family relationships, and it is often used to determine the mode of inheritance (dominant, recessive, etc.) of genetic diseases.
Yang Lei, Cheng En, Özsoyoğlu Z Meral
doaj   +1 more source

Prioritizing JUnit Test Cases Without Coverage Information: An Optimization Heuristics Based Approach

IEEE Access, 2019
Regression testing is an expensive activity and Test Case Prioritization (TCP) acts as an improvement mechanism for it. TCP techniques for object oriented programs need attention and in our study, we explored prioritization of JUnit test cases.
R. Mukherjee, K. S. Patnaik
doaj   +1 more source

Solid Harmonic Wavelet Bispectrum for Image Analysis

Advanced Science, EarlyView.
The Solid Harmonic Wavelet Bispectrum (SHWB), a rotation‐ and translation‐invariant descriptor that captures higher‐order (phase) correlations in signals, is introduced. Combining wavelet scattering, bispectral analysis, and group theory, SHWB achieves interpretable, data‐efficient representations and demonstrates competitive performance across texture,
Alex Brown, Mathilda Avirett‐Mackenzie, Carolin Villforth, Georgios Exarchakis   +3 more
wiley   +1 more source

Intelligent Sensing: The Emerging Integration of Machine Learning and Soft Sensors Based on Hydrogels and Ionogels

Advanced Science, EarlyView.
By integrating with machine learning (ML), hydrogel‐ and ionogel‐based soft sensors are gaining human brain‐like capabilities to perceive, learn, and predict. This review summarizes their advances, focusing on ML‐powered applications such as handwriting/gesture/object/motion/speech recognition, health monitoring, food detection, and beyond.
Wenqing He, Rumin Lin, Suixiu Kong, Mengyi Qiang, Lingqi Huang, Bing Dai, Xi Yao, Lei Su, Xueji Zhang   +8 more
wiley   +1 more source

Trifluoracetic Acid‐Driven (002) Facet Engineering of Zn Metal Powder Anodes for High‐Performance Aqueous Zinc‐Ion Batteries

Advanced Energy Materials, EarlyView.
A selective surface engineering strategy is presented for zinc metal powder (ZnMP) anodes in aqueous zinc‐ion batteries. Trifluoroacetic acid treatment enriches the exposure of (002) planes, forming a stepped hexagonal morphology that suppresses hydrogen evolution and dendrite growth.
Ye‐Won Kim, Daehyun Kim, Geunwoo Kim, Pritam Das, Dong Il Kim, Hyeong Seop Jeong, Byeong Geun Kim, Yongjae Kwon, Younghwan Choi, Sangyeon Pak, Jin Pyo Hong, Pil‐Ryung Cha, John Hong   +12 more
wiley   +1 more source