Results 121 to 130 of about 239,120 (310)

Coordinated Role of Autophagy and ERAD in Maintaining Neuroendocrine Function by Preventing Prohormone Aggregation

Advanced Science, EarlyView.
By studying the maturation mechanisms of vasopressin (AVP), this manuscript identifies FAM134B‐mediated ER‐phagy as a critical pathway for degrading both aggregated proAVP and the key ERAD component, HRD1. HRD1 induction mitigates proAVP aggregation and support AVP neuron function in the absence of autophagy.
Xuya Pan, Xing He, Su Wu, Na Xiong, Xinyu Hou, Heting Wang, Diane Somlo, Martin Spiess, Haiyang Wang, Jifeng Yang, Chunliang Li, Shasha Li, Wenbin Ma, Yanming Chen, Jun Cui, Ling Qi, Guojun Shi   +16 more
wiley   +1 more source

Context-Aware Prediction of Pathogenicity of Missense Mutations Involved in Human Disease [PDF]

arXiv, 2017
Amino-acid substitutions are implicated in a wide range of human diseases, many of which are lethal. Distinguishing such mutations from polymorphisms without significant effect on human health is a necessary step in understanding the etiology of such diseases.
arxiv  

KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation [PDF]

Brain. 2020 Dec 5;143(11):3242-3261
Heterozygous mutations in KMT2B are associated with an early-onset, progressive, and often complex dystonia (DYT28). Key characteristics of typical disease include focal motor features at disease presentation, evolving through a caudocranial pattern into generalized dystonia, with prominent oromandibular, laryngeal, and cervical involvement.
arxiv   +1 more source

Exome Sequencing Reveals the Genetic Architecture of Non‐syndromic Orofacial Clefts and Identifies BOC as a Novel Causal Gene

Advanced Science, EarlyView.
Nonsyndromic orofacial clefts (NSOFCs) are the most common craniofacial defects. Exome sequencing of 214 sporadic cases sheds new light on its genetic architecture and identifies many candidate pathogenic variants. Furthermore, functional studies establish BOC as a novel causal gene and reveal an unusual two‐locus model of inheritance via the epistatic
Qing He, Min Yu, Yuhua Jiao, Yizhu Xu, Xuqin Liang, Wenbin Huang, Linping Xu, Yuxia Hou, Zhanping Ren, Beile Lyu, Zhenwei Qian, Pengpeng Liu, Jing Zhou, Huimei Huang, Chunyan Yin, Huaxiang Zhao, Yi Ding   +16 more
wiley   +1 more source

A novel missense mutation (FGG c.1168G > T) in the gamma chain of fibrinogen causing congenital hypodysfibrinogenemia with bleeding phenotype

Hereditas
Background Fibrinogen plays pivotal roles in multiple biological processes. Genetic mutation of the fibrinogen coding genes can result in congenital fibrinogen disorders (CFDs).
Nuo Xu, Liping Zheng, Zhehao Dai, Jun Zhu, Peng Xie, Shun Yang, Fei Chen   +6 more
doaj   +1 more source

CircTP53/USP10/p53 signaling Axis as a Novel Regulator of Progression and Prognosis of Head and Neck Squamous Cell Carcinoma

Advanced Science, EarlyView.
The study identifies a novel circular RNA derived from the TP53 gene (circTP53), which is upregulated in HNSCC and correlates with poor patient prognosis. It demonstrates that circTP53 promotes HNSCC progression by interacting with USP10, stabilizing both proteins, enhancing deubiquitination of p53, and thereby influencing tumor growth, with its ...
Yin Wang, Fen Chang, Zinan Li, Chengcheng Duan, Xiangkai Sun, Siyu Wang, Dongmin Wei, Wenming Li, Ye Qian, Shengda Cao, Juan Zhao, Dapeng Lei   +11 more
wiley   +1 more source

The prognostic value of TP53 mutations in hypopharyngeal squamous cell carcinoma

BMC Cancer, 2017
Background TP53 is the most frequently mutated gene in human cancers. Previous studies reported that TP53 mutations correlated with poor prognoses in patients with head and neck squamous cell carcinoma (HNSCC).
Go Omura, Mizuo Ando, Yasuhiro Ebihara, Yuki Saito, Kenya Kobayashi, Osamu Fukuoka, Ken Akashi, Masafumi Yoshida, Takahiro Asakage, Tatsuya Yamasoba   +9 more
doaj   +1 more source

A Family with A Missense Mutation in the SCN5A Gene

Korean Circulation Journal, 2003
Brugada syndrome, an autosomal dominantly inherited form of ventricular fibrillation, is characterized by ST- segment elevation in leads V1-3 and right bundle-branch block on surface electrocardiogram. It is caused by mutations in the cardiac sodium channel gene, SCN5A, and to the best of our knowledge, there has been no report of this mutation in ...
Yong Bock Choi, Seok Kyu Oh, Moon Kee Paik, Su Sung Yoo, Nam-Ho Kim, Jin Won Jeong, Kyung Hee Kim, Kyeong Man Hong, Chang Ho Shin   +8 more
openaire   +2 more sources

AlphaFold‐Guided Bespoke Gene Editing Enhances Field‐Grown Soybean Oil Contents

Advanced Science, EarlyView.
An AlphaFold‐guided method is developed to functionally optimize soybean sugar transporters and achieve bespoke gene editing of GmSWEET10a/b to improve oil content in an elite soybean cultivar in multi‐year, multi‐site field trials. The combination of AI‐guided protein design and gene editing may unlock a huge potential to improve the genetic trait de ...
Jie Wang, Li Zhang, Shoudong Wang, Xin Wang, Suning Li, Pingping Gong, Mengyan Bai, Arnav Paul, Nathan Tvedt, Hengrui Ren, Maoxiang Yang, Zhihui Zhang, Shaodong Zhou, Jiayi Sun, Xianjin Wu, Huaqin Kuang, Zhenghua Du, Yonghui Dong, Xiaolei Shi, Meina Li, Diwakar Shukla, Long Yan, Yuefeng Guan   +22 more
wiley   +1 more source

MMUUTTAATTIIOONNANALYSIS OF PAX9 GENE IN AFFECTED FAMILY OF HYPODONTIA ATTENDING TERTIARY CARE HOSPITAL OF QUETTA

Pakistan Armed Forces Medical Journal, 2018
Objective: To identify the phenotype and genotype of hypodontia for a Pakistani family with hypodontia and to map the genes locus responsible for this disease. Study Design: Descriptive study.
Muhammad Nawaz, Nasrullah Khan, Agha Muhammad Raza, Nisar Ahmed, Jamil Ahmad   +4 more
doaj