Results 191 to 200 of about 1,497,962 (254)

TECTB Variants Reveal Tectorial Membrane Vulnerability in Dominant Non‐Syndromic Hearing Loss

Advanced Science, EarlyView.
TECTB is a non‐collagenous protein of the tectorial membrane – an extracellular matrix of the cochlea. This study identifies dominant missense variants in TECTB linked to human hereditary deafness in two unrelated families. Genetically engineered mice homozygous for one of the variants are profoundly deaf, whereas heterozygous mice have normal hearing ...
Evan B. Hale, Barbara Vona, Richard J. Goodyear, Richard T. Osgood, Jun Shen, Sami S. Amr, Karen Mojica, Michaela A. H. Hofrichter, Jörg Schröder, Sophie Flandin, Paul Gratias, Ricardo Vera‐Monroy, Katherine Callahan, Kerry L. Gudlewski, Rolen Quadros, Masato Ohtsuka, JoAnn McGee, Edward J. Walsh, Cynthia C. Morton, Thomas Haaf, Channabasavaiah Gurumurthy, James E. Saunders, Guy P. Richardson, Artur A. Indzhykulian   +23 more
wiley   +1 more source

Increased Disarray of Extracellular Matrix Collagen‐I Fiber Network and Compromised Biomechanics in Aortae From Marfan‐Syndrome Mice Assessed Through Combined Opto‐Biomechatronics

Advanced Science, EarlyView.
Combined structure‐function assessment in aortic rings from Marfan mice using MechaMorph Opto‐Biomechatronics technology relates increased elasticity (stiffness) and dynamic viscosity and less ordered extracellular matrix 3D‐structure (collagen) as potential causes for impaired Windkessel function and compromised haemodynamics in Marfan's syndrome ...
Dominik Schneidereit, Anika Nagel, Vanessa I. T. Zwaans, Laureen Schurr, Jonas Ahr, Michael Haug, Anna Piluso, Alexandra Sporkova, Matthias Karck, Andreas H. Wagner, Oliver Friedrich   +10 more
wiley   +1 more source

Chromosome Conformation Capture Reveals Two Elements That Interact with the PTBP3 (ROD1) Transcription Start Site. [PDF]

Int J Mol Sci, 2019
Kubiak M, Jurek A, Kamińska K, Kowalewski J, Huang S, Lewandowska MA.   +5 more
europepmc   +1 more source

Phase Separation of SF3B1 Serves as a Critical Post‐Transcriptional Regulator During Early Mouse Embryogenesis

Advanced Science, EarlyView.
Phase separation of SF3B1 acts as a key regulatory mechanism for dynamic alternative splicing throughout early mouse embryogenesis. Its absence triggers extensive splicing errors, which induce persistent DNA damage, defective cell cycle progression, and failed cell lineage commitment, and ultimately hinder the normal growth and development of ...
Kang Zhao, Ting‐Yu Han, Yan‐Li Cheng, Yi‐Dan Zhang, Yu‐Wei Zhang, JinJian Guo, ShaoJun Zhang, WenZe Huang, Jing Zhang, Pei‐Yu Liao, Ying Xin, ChuanChen Chu, Qing‐Yuan Sun, ZhiZhen Liu, Xiang‐Hong Ou, Jun Xie   +15 more
wiley   +1 more source

Hierarchical Flux‐Protection Engineering Stabilizes Oxidation‐Prone Metabolic Nodes for High‐Level Curcumin Biosynthesis

Advanced Science, EarlyView.
Flux‐protection engineering stabilizes an oxidation‐prone L‐DOPA node in engineered E. coli by combining acid‐adapted chassis evolution, respiratory‐chain modulation, enzyme‐level flux matching, and pH–DO control. Carbon is redirected from oxidative browning to productive biosynthesis, enabling 1075.2 mg/L curcumin and demonstrating transferability to ...
Jianbin Chen, Qihang Chen, Shurong Zhang, Yajuan Su, Xiaoyi Zou, Ke Wang, Shike Liu, Qian He, Liang Zhang, Weizhu Zeng, Jingwen Zhou   +10 more
wiley   +1 more source

Engineered Transformer Base Editor with Enhanced Editing Efficiency

Advanced Science, EarlyView.
A highly efficient transformer base editor system achieves robust genomic editing in a humanized mouse model. This work establishes a versatile and translatable platform, opening new avenues for precision gene therapy. ABSTRACT Canonical cytosine base editors (CBEs) achieve precise C‐to‐T conversions without inducing DNA double‐strand breaks (DSBs ...
Bowen Chen, Letong Liang, Rui Xu, Tianyi Wang, Hongyan Chen, Daru Lu   +5 more
wiley   +1 more source

Nuclear IDH3A Drives Transcriptional Programs in Melanoma via the YBX1–JUN/FOS Axis

Advanced Science, EarlyView.
Genomic amplification drives aberrant nuclear localization of IDH3A in melanoma. Independent of its canonical metabolic activity, nuclear IDH3A cooperates with YBX1 to activate the c‐JUN/c‐FOS transcriptional program, while NONO facilitates its nuclear localization.
Juan Ran, Yanchun Fang, Shengming Ruan, Juling Wang, Songbai Liu, Yuan Mao, Dongsheng Hou, Yanping Wang, Zi Ye, Qiong Li, Daoxiang Zhang   +10 more
wiley   +1 more source

A Case of Multiple Mitochondrial Dysfunctions Syndrome 1 and Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Multiple mitochondrial dysfunctions syndrome 1 (MMDS1, MIM #605711) due to NFU1 gene defects is an ultra‐rare autosomal recessive inborn error of metabolism associated with reduced function of NFU1 iron–sulfur cluster (ISC) scaffold protein.
Charles R. DiFalco, Aaron Williams, Claudia Soler‐Alfonso, Emily Waskow, Elizabeth Mizerik, Fernando Scaglia, Chaya N. Murali   +6 more
wiley   +1 more source

Cerebellar Abnormalities in the Neuroimaging Spectrum of CLTC‐Related Disorder

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Pathogenic variants in CLTC, which encodes the clathrin heavy chain involved in vesicle‐mediated trafficking in neurons, cause a rare neurodevelopmental disorder associated with variable severity of global developmental delay and intellectual disability and structural brain abnormalities. Although corpus callosum and white matter anomalies are
Daniel Charouf, Andrea Accogli, Fadi F. Hamdan, Francesca Nardecchia, Toshiyuki Itai, Kenneth A. Myers, Christine Saint Martin, Myriam Srour   +7 more
wiley   +1 more source

Musculoskeletal Phenotypes of 19 Patients With X‐Linked HNRNPH2‐Related Neurodevelopmental Disorder: A Prospective Case Series

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Detailed clinical phenotypes have been previously reported for 33 individuals with X‐linked HNRNPH2‐related neurodevelopmental disorder. Of these, 75% self‐reported a musculoskeletal abnormality, including hip dysplasia, scoliosis, kyphosis, lordosis, pes planus, arthritis, and missing spinous processes.
Ambar Garcia, Rachel Salazar, Nicole Holuba, Franklin E. Paulino, Michael G. Vitale, Jennifer M. Bain, Joshua Hyman   +6 more
wiley   +1 more source