“Mini Molar Tooth” Sign in POLR3B‐Associated Cerebellar Ataxia with Hypomyelinating Leukodystrophy
Movement Disorders Clinical Practice, EarlyView.
Luca Marsili +5 more
wiley +1 more source
Chinese Clinical Practice Guidelines for Auditory Neuropathy (gCAN)
World Journal of Otorhinolaryngology - Head and Neck Surgery, EarlyView.ABSTRACT Auditory neuropathy (AN) is an auditory disorder that affects the function of the auditory pathway. An increasing number of AN cases have been identified with the revelation of the underlying mechanisms, the advancements of diagnostic and detecting techniques.
Chinese Multi‐Center Research Collaborative Group on Clinical Diagnosis and Intervention of Auditory Neuropathy; Editorial Board of Chinese Journal of Otorhinolaryngology Head and Neck Surgery; Society of Otorhinolaryngology Head and Neck Surgery +43 more
wiley +1 more source
Mechanism-based approach in designing patient-specific combination therapies for nonsense mutation diseases. [PDF]
Nucleic Acids ResBhat SY +6 more
europepmc +1 more source
An Extended Iranian Family with Autosomal Dominant Non-syndromic Hearing Loss Associated with A Nonsense Mutation in the DIAPH1 Gene. [PDF]
Arch Iran Med, 2023 Mohseni M +9 more
europepmc +1 more source
Nonsense Mutations in cspA Cause Ribosome Trapping Leading to Complete Growth Inhibition and Cell Death at Low Temperature in Escherichia coli [PDF]
, 2001 Bing Xia +2 more
openalex +1 more source
Contested Good City Stories from a North Chennai Littoral
International Journal of Urban and Regional Research, EarlyView.Abstract This article investigates the wilful destruction of Ennore Creek, a littoral wetland system in north Chennai, Tamil Nadu, by a series of shifting statist good city imaginaries expressed in plans, research reports, environmental impact assessments, government orders and court judgements.
Lindsay Bremner +2 more
wiley +1 more source
The β-Chain Mutation p.Arg17Stop Impairs Fibrinogen Synthesis and Secretion: A Nonsense Mutation Associated With Hypofibrinogenemia. [PDF]
J Clin Lab AnalQian C +8 more
europepmc +1 more source
A nonsense mutation is responsible for the RNA-negative phenotype in human citrullinaemia [PDF]
, 2001 Chi-Ming Li +3 more
openalex +1 more source
Local Growth Hormone Facilitates Aging of the Colon Epithelial Microenvironment
Aging Cell, EarlyView.Local growth hormone (GH) is expressed and secreted by senescent cells in the aging human colon. GH triggers epithelial‐to‐mesenchymal transition and activates colon cell motility by regulating extracellular matrix proteins, inducing cytoskeleton rearrangement and altering cell motility protein phosphorylation.
Vera Chesnokova +8 more
wiley +1 more source