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Showing 1–50 of 741 results

Advanced filters: Author: D. A. USHER Clear advanced filters

Author Correction: Alterations of the CIB2 calcium- and integrin-binding protein cause Usher syndrome type 1J and nonsyndromic deafness DFNB48

Saima Riazuddin
Inna A. Belyantseva
Zubair M. Ahmed
Amendments and Corrections26 Aug 2025
Nature Genetics

Volume: 57, P: 2340-2342
The autosomal recessive isolated deafness, DFNB2, and the Usher 1B syndrome are allelic defects of the myosin-VIIA gene

Dominique Weil
Polonca Küssel
Christine Petit
Research01 Jun 1997
Nature Genetics

Volume: 16, P: 191-193
Defective myosin VIIA gene responsible for Usher syndrome type IB

Dominique Well
Stéphane Blanchard
Christine Petit
Research02 Mar 1995
Nature

Volume: 374, P: 60-61
A novel locus for Usher syndrome type II, USH2B, maps to chromosome 3 at p23–24.2

Mounira Hmani
Abdelmonem Ghorbel
Hammadi Ayadi
Research05 May 1999
European Journal of Human Genetics

Volume: 7, P: 363-367
A recessive contiguous gene deletion causing infantile hyperinsulinism, enteropathy and deafness identifies the Usher type 1C gene

Maria Bitner-Glindzicz
Keith J. Lindley
Benjamin Glaser
Research01 Sept 2000
Nature Genetics

Volume: 26, P: 56-60
Accelerated age-related olfactory decline among type 1 Usher patients

João Carlos Ribeiro
Bárbara Oliveiros
Eduardo D. Silva
ResearchOpen Access22 Jun 2016
Scientific Reports

Volume: 6, P: 1-8
Profound, prelingual nonsyndromic deafness maps to chromosome 10q21 and is caused by a novel missense mutation in the Usher syndrome type IF gene PCDH15

Lance Doucette
Nancy D Merner
Terry-Lynn Young
Research24 Dec 2008
European Journal of Human Genetics

Volume: 17, P: 554-564
Partial USH2A deletions contribute to Usher syndrome in Denmark

Shzeena Dad
Nanna D Rendtorff
Lisbeth B Møller
Research25 Mar 2015
European Journal of Human Genetics

Volume: 23, P: 1646-1651
Alterations of the CIB2 calcium- and integrin-binding protein cause Usher syndrome type 1J and nonsyndromic deafness DFNB48

Zubair Ahmed and colleagues identify homozygous mutations in CIB2, a gene that encodes a calcium- and integrin-binding protein, that cause Usher syndrome type 1J and nonsyndromic deafness DFNB48. CIB2 is required for hair cell development and retinal photoreceptor cells in zebrafish and Drosophila melanogaster.

Saima Riazuddin
Inna A Belyantseva
Zubair M Ahmed
Research30 Sept 2012
Nature Genetics

Volume: 44, P: 1265-1271
Lateral olfactory tract usher substance (LOTUS), an endogenous Nogo receptor antagonist, ameliorates disease progression in amyotrophic lateral sclerosis model mice

Takuya Ikeda
Keita Takahashi
Fumiaki Tanaka
ResearchOpen Access14 Dec 2023
Cell Death Discovery

Volume: 9, P: 1-10
Structural biology of the chaperone–usher pathway of pilus biogenesis

Chaperone–usher pili are assembled and secreted by a periplasmic chaperone and a dimeric outer-membrane usher complex. Gabriel Waksman and Scott Hultgren review the structural information that has been gathered over the past decade on the various players that participate in P and type 1 pilus biogenesis.

Gabriel Waksman
Scott J. Hultgren
Reviews12 Oct 2009
Nature Reviews Microbiology

Volume: 7, P: 765-774
Novel compound heterozygous CDH23 variants in a patient with Usher syndrome type I

Satomi Okano
Yoshio Makita
Issei Imoto
ResearchOpen Access28 Jan 2019
Human Genome Variation

Volume: 6, P: 1-4
CRISPR/Cas9 editing of the MYO7A gene in rhesus macaque embryos to generate a primate model of Usher syndrome type 1B

Junghyun Ryu
John P. Statz
Jon D. Hennebold
ResearchOpen Access16 Jun 2022
Scientific Reports

Volume: 12, P: 1-13
An innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patients

Crystel Bonnet
Zied Riahi
Christine Petit
ResearchOpen Access27 Jul 2016
European Journal of Human Genetics

Volume: 24, P: 1730-1738
Erratum: Profound, prelingual nonsyndromic deafness maps to chromosome 10q21 and is caused by a novel missense mutation in the Usher syndrome type IF gene PCDH15

Lance Doucette
Nancy D Merner
Terry-Lynn Young
Amendments and Corrections24 Sept 2009
European Journal of Human Genetics

Volume: 17, P: 1363
Lentiviral gene replacement therapy of retinas in a mouse model for Usher syndrome type 1B

T Hashimoto
D Gibbs
D S Williams
Research01 Feb 2007
Gene Therapy

Volume: 14, P: 584-594
Mutation analysis in the long isoform of USH2A in American patients with Usher Syndrome type II

Denise Yan
Xiaomei Ouyang
Xue-Zhong Liu
Research30 Oct 2009
Journal of Human Genetics

Volume: 54, P: 732-738
Identification of novel USH2A mutations: implications for the structure of USH2A protein

Bo Dreyer
Lisbeth Tranebjærg
Øivind Nilssen
Research24 Jul 2000
European Journal of Human Genetics

Volume: 8, P: 500-506
Gene therapy approaches for prevention of retinal degeneration in Usher syndrome

D S Williams
A Chadha
D Gibbs
News05 Jan 2017
Gene Therapy

Volume: 24, P: 68-71
A comprehensive guide to pilus biogenesis in Gram-negative bacteria

Pili are crucial virulence factors in many Gram-negative pathogens; these surface structures enable bacteria to interact with, and attach to structures in, their environment and can also facilitate horizontal gene transfer. In this Review, Waksmanet al. examine recent advances in our structural understanding of various pilus systems in Gram-negative bacteria and discuss their functional implications.

Manuela K. Hospenthal
Tiago R. D. Costa
Gabriel Waksman
Reviews12 May 2017
Nature Reviews Microbiology

Volume: 15, P: 365-379
Electroretinography Reveals Difference in Cone Function between Syndromic and Nonsyndromic USH2A Patients

Jesse D. Sengillo
Thiago Cabral
Stephen H. Tsang
ResearchOpen Access11 Sept 2017
Scientific Reports

Volume: 7, P: 1-11
Effective assembly of fimbriae in Escherichia coli depends on the translocation assembly module nanomachine

The translocation assembly module (TAM) of Escherichia coli functions together with the BAM complex to mediate the rapid assembly of usher proteins, the molecular platform important for the biogenesis of bacterial fimbriae.

Christopher Stubenrauch
Matthew J. Belousoff
Trevor Lithgow
Research16 May 2016
Nature Microbiology

Volume: 1, P: 1-8
Natural selection on protein-coding genes in the human genome

Carlos D. Bustamante
Adi Fledel-Alon
Andrew G. Clark
Research20 Oct 2005
Nature

Volume: 437, P: 1153-1157
Quiet as a mouse: dissecting the molecular and genetic basis of hearing

Genetic, biochemical, ultrastructural and physiological studies of mouse mutants have crucially advanced our understanding of the molecular mechanisms of hearing. A detailed picture is emerging of the protein complexes that are responsible for the growth and cohesion of the stereocilia bundle — a complex subcellular structure at the core of the auditory apparatus.

Steve D. M. Brown
Rachel E. Hardisty-Hughes
Philomena Mburu
Reviews19 Feb 2008
Nature Reviews Genetics

Volume: 9, P: 277-290
Giant retinal tear and retinal detachment with underlying retinitis pigmentosa and hearing loss

Robert Y Kim
Steven D Schwartz
Robert J Cooling
Research01 Nov 1996
Eye

Volume: 10, P: 697-700
Personalised genomic strategies improve diagnostic yield in inherited retinal dystrophies: a stepwise, patient-centred approach

Anna Esteve-Garcia
Ariadna Padró-Miquel
Cinthia Aguilera
ResearchOpen Access09 Sept 2025
Eye

P: 1-13
Mutations in the myosin VIIA gene cause non-syndromic recessive deafness

Xue-Zhong Liu
James Walsh
Steve D.M. Brown
Research01 Jun 1997
Nature Genetics

Volume: 16, P: 188-190
Single-molecule fluorescence microscopy reveals regulatory mechanisms of MYO7A-driven cargo transport in stereocilia of live inner ear hair cells

Miyoshi and colleagues propose STELLA-SPIM microscopy to visualise single MYO7A molecules in live murine inner ear hair cells. Their data suggest that MYO7A traffics as a dimer within stereocilia to assemble the mechanoelectrical transduction machinery.

Takushi Miyoshi
Harshad D. Vishwasrao
Thomas B. Friedman
ResearchOpen Access01 Sept 2025
Nature Communications

Volume: 16, P: 1-16
Secretion systems in Gram-negative bacteria: structural and mechanistic insights

In this Review, Waksman and colleagues describe the structural and mechanistic details of the six secretion systems (types I–VI) of Gram-negative bacteria, the unique mycobacterial type VII secretion system, the chaperone–usher pathway and the curli biogenesis machinery. They discuss both conserved and divergent properties of these systems and their potential as targets of novel antibacterial compounds.

Tiago R. D. Costa
Catarina Felisberto-Rodrigues
Gabriel Waksman
Reviews15 May 2015
Nature Reviews Microbiology

Volume: 13, P: 343-359
Using big sequencing data to identify chronic SARS-Coronavirus-2 infections

Chronic SARS-CoV-2 infections have been hypothesised to be sources of new variants. Here, the authors use large-scale genome sequencing data to identify mutations predictive of chronic infections, which may therefore be relevant in future variants.

Sheri Harari
Danielle Miller
Adi Stern
ResearchOpen Access20 Jan 2024
Nature Communications

Volume: 15, P: 1-12
Immune evasion and ACE2 binding affinity contribute to SARS-CoV-2 evolution

Correlations of mutation incidence and fitness changes with the impacts of mutations on immune evasion and ACE2 binding affinity across available SARS-CoV-2 genomes show that immune evasion and ACE2 binding affinity contributed to SARS-CoV-2 evolution.

Wentai Ma
Haoyi Fu
Mingkun Li
Research13 Jul 2023
Nature Ecology & Evolution

Volume: 7, P: 1457-1466
Radio properties of BL Lac type objects

D. R. Altschuler
J. F. C. Wardle
Research22 May 1975
Nature

Volume: 255, P: 306-310
VCAM-1⁺ macrophages guide the homing of HSPCs to a vascular niche

In zebrafish embryogenesis, nascent haematopoietic stem and progenitor cells (HSPCs), homing to a vascular niche for retention, are ushered by patrolling and guiding macrophages through integrin-mediated cell-cell recognition.

Dantong Li
Wenzhi Xue
Weijun Pan
Research19 Nov 2018
Nature

Volume: 564, P: 119-124
Diagnostic yield of panel-based genetic testing in syndromic inherited retinal disease

Omamah A. Jiman
Rachel L. Taylor
Graeme C. Black
ResearchOpen Access13 Dec 2019
European Journal of Human Genetics

Volume: 28, P: 576-586
Quality control of disulfide bond formation in pilus subunits by the chaperone FimC

The chaperone FimC only selects unfolded, disulfide-intact pilus subunits and accelerates protein folding by lowering topological complexity, thereby ensuring quality control in pilus assembly.

Maria D Crespo
Chasper Puorger
Rudi Glockshuber
Research01 Jul 2012
Nature Chemical Biology

Volume: 8, P: 707-713
The prevalence and clinical features of MYO7A-related hearing loss including DFNA11, DFNB2 and USH1B

Kizuki Watanabe
Shin-ya Nishio
Shunsuke Kondo
ResearchOpen Access09 Apr 2024
Scientific Reports

Volume: 14, P: 1-19
Selective depletion of uropathogenic E. coli from the gut by a FimH antagonist

Both F17-like and type 1 pili promote intestinal colonization in mouse colonic crypts, and the high-affinity mannoside M4284 reduces intestinal colonization of uropathogenic Escherichia coli while simultaneously treating urinary tract infections without disrupting the composition of the gut microbiota.

Caitlin N. Spaulding
Roger D. Klein
Scott J. Hultgren
Research14 Jun 2017
Nature

Volume: 546, P: 528-532
Optical variability of PKS0048-097

P. D. USHER
D. R. KOLPANEN
J. T. POLLOCK
Research29 Nov 1974
Nature

Volume: 252, P: 365
Polygenic prediction of body mass index and obesity through the life course and across ancestries

Polygenic scores for body mass index and obesity constructed using data from 5 million people with different ancestries were associated with distinct weight gain trajectories from early childhood to adulthood.

Roelof A. J. Smit
Kaitlin H. Wade
Ruth J. F. Loos
ResearchOpen Access21 Jul 2025
Nature Medicine

Volume: 31, P: 3151-3168
Evolution of the 3′, 5′ internucleotide bond

D. A. USHER
Research01 Apr 1979
Nature

Volume: 278, P: 582
Divergent SARS-CoV-2 variant emerges in white-tailed deer with deer-to-human transmission

White-tailed deer are a potential reservoir of SARS-CoV-2 variants.

Bradley Pickering
Oliver Lung
Jeff Bowman
ResearchOpen Access10 Nov 2022
Nature Microbiology

Volume: 7, P: 2011-2024
Clinical implications of bone marrow adiposity identified by phenome-wide association and Mendelian randomization in the UK Biobank

Bone marrow adipose tissue accounts for almost 10% of human fat mass, but its roles remain unclear. Here, Xu et al. identify more than 45 diseases linked to marrow adiposity in over 48,000 people, including causal roles in musculoskeletal disease.

Wei Xu
Ines Mesa-Eguiagaray
William P. Cawthorn
ResearchOpen Access23 Sept 2025
Nature Communications

Volume: 16, P: 1-22
Accelerated evolution of SARS-CoV-2 in free-ranging white-tailed deer

White-tailed deer are an important reservoir of SARS-CoV-2 in the USA and continued monitoring of the virus in deer populations is needed. In this genomic epidemiology study from Ohio, the authors show that the virus has been introduced multiple times to deer from humans, and that it has evolved faster in deer.

Dillon S. McBride
Sofya K. Garushyants
Andrew S. Bowman
ResearchOpen Access28 Aug 2023
Nature Communications

Volume: 14, P: 1-15
Early detection of emerging SARS-CoV-2 Variants from wastewater through genome sequencing and machine learning

Wastewater surveillance can help in pandemic or outbreak response. Here, the authors report an unsupervised learning approach to detect emerging SARS-CoV-2 variants from rural and urban wastewater showing it achieves earlier detection than existing methods and detects new variants without clinical testing data.

Xiaowei Zhuang
Van Vo
Edwin C. Oh
ResearchOpen Access08 Jul 2025
Nature Communications

Volume: 16, P: 1-12
A program for real-time surveillance of SARS-CoV-2 genetics

Hayden N. Brochu
Kuncheng Song
Lakshmanan K. Iyer
ResearchOpen Access30 Aug 2024
Scientific Reports

Volume: 14, P: 1-15
Genomic surveillance identifies potential risk factors for SARS-CoV-2 transmission at a mid-sized university in a small rural town

Kimberly R. Andrews
Daniel D. New
Carolyn J. Hovde
ResearchOpen Access16 May 2023
Scientific Reports

Volume: 13, P: 1-15
Small-molecule inhibitors target Escherichia coli amyloid biogenesis and biofilm formation

Lynette Cegelski
Jerome S Pinkner
Scott J Hultgren
Research25 Oct 2009
Nature Chemical Biology

Volume: 5, P: 913-919
Predicting pathogenicity for novel hearing loss mutations based on genetic and protein structure approaches

Paula I. Buonfiglio
Carlos D. Bruque
Viviana Dalamón
ResearchOpen Access07 Jan 2022
Scientific Reports

Volume: 12, P: 1-14
Wastewater sequencing reveals early cryptic SARS-CoV-2 variant transmission

Emerging SARS-CoV-2 variants of concern were detected early and multiple cases of virus spread not captured by clinical genomic surveillance were identified using high-resolution wastewater and clinical sequencing.

Smruthi Karthikeyan
Joshua I. Levy
Rob Knight
ResearchOpen Access07 Jul 2022
Nature

Volume: 609, P: 101-108
Absolute Stereochemistry of the Second Step of Ribonuclease Action

D. A. USHER
DAVID I. RICHARDSON JUN.
F. ECKSTEIN
Research14 Nov 1970
Nature

Volume: 228, P: 663-665

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