Results 141 to 150 of about 172,875 (363)

TULP4, a novel E3 ligase gene, participates in neuronal migration as a candidate in schizophrenia

CNS Neuroscience &Therapeutics, EarlyView., 2023
Mutations identified from four SCZ pedigrees resulted in decreased TULP4 expression. Tulp4 knockdown caused delayed neuron migration in embryonic mice, and impaired cognition and prepulse inhibition in adult mice. These phenotypes may be related to TULP4 through its involvement in the formation of a novel E3 ubiquitin ligases.
Yan Bi, Decheng Ren, Fan Yuan, Zhou Zhang, Daizhan Zhou, Xin Yi, Lei Ji, Keyi Li, Fengping Yang, Xi Wu, Xingwang Li, Yifeng Xu, Yun Liu, Peng Wang, Changqun Cai, Chuanxin Liu, Qian Ma, Lin He, Yi Shi, Guang He   +19 more
wiley   +1 more source

Aquisição de advérbios não manuais em HKSL por crianças surdas no Jockey Club Sign Bilingualism and Co-enrolment in Deaf Education Programme

Cadernos de Saúde, 2013
Jia Li, Scholastica Lam, Cat H.-M. Fung
doaj   +1 more source

Diagnosis and Management of Prenatal Hereditary Pyropoikilocytosis

Prenatal Diagnosis, EarlyView.
ABSTRACT Hereditary pyropoikilocytosis (HPP) is a severe hemolytic anemia caused by variants in SPTA1, SPTB, and EPB41. These weaken horizontal interactions in the erythrocyte cytoskeleton, causing membrane fragmentation and splenic sequestration. It will readily cause fetal anemia and often hydrops fetalis. Prenatal diagnosis requires first ruling out
Connor Hartzell, Samantha Stover, Nora Gibson, Timothy Olson, James Connelly, Matthew Grace, Jennifer Andrews   +6 more
wiley   +1 more source

Syndrome for Diagnosis: Dwarfing, Persistently Open Fontanelle; Recurrent Meningitis; Recurrent Subdural Effusions with Temporary Alternate-Sided Hemiplegia; High-Tone Deafness; Visual Defect with Pseudopapilloedema; Slowing Intellectual Development; Recurrent Acute Polyarthritis; Erythema Marginatum, Splenomegaly and Iron-Resistant Hypochromic Anaemia

, 1973
John Lorber
openalex   +1 more source

Jervell and Lange‐Nielsen Syndrome Related Clinical Genetics and Experimental Models

Pediatric Discovery, EarlyView.
ABSTRACT Jervell and Lange‐Nielsen syndrome (JLNS) is defined by electrocardiographic QT prolongation and sensorineural hearing loss, caused by homozygous or compound heterozygous variants in KCNQ1 and/or KCNE1. KCNQ1 encodes the alpha subunit Kv7.1 of the ion channels accountable for slow delayed rectifier potassium currents (IKs), whereas KCNE1 ...
Yafei Zhou, Christopher L.‐H. Huang, Ying Yang, Yanmin Zhang   +3 more
wiley   +1 more source

Progress On Sensorineural Hearing Loss: Mechanisms and Therapies

Sensory Neuroscience, EarlyView.
ABSTRACT Hearing loss is the most common disabling disease among humans, which adversely affects human health. Sensorineural hearing loss (SNHL) accounting for approximately 63% of all hearing loss cases. SNHL may be classified into age‐related hearing loss (ARHL), drug‐induced hearing loss (DIHL), noise‐induced hearing loss (NIHL), and sudden ...
Yuan Zhang, Shen Li, Yangfan Zhou, Duopin Li, Junru Ding, Ruifeng Qiao, Yutian Chen, Fanglei Ye, Le Wang, Peipei Li   +9 more
wiley   +1 more source

The Representation of Taiwan in Czech Online Media Discourse between 2017 and 2020

Academic Journal of Modern Philology
This paper examines the representation of Taiwan in Czech online media discourse between 2017 and 2020 using a corpus-based approach to discourse analysis.
Adrian Jan Zasina
doaj   +1 more source

AMPKα Silencing Prevents Kanamycin‐Induced Ototoxicity in an Acute Mouse Model

Sensory Neuroscience, EarlyView.
Kanamycin plus furosemide (KM + FU) treatment (acute ototoxic model) causes AMPKα activation and rapidly induces cochlear outer hair cell (OHC) loss. Silencing AMPKα1 via posterior semicircular canal injection 48 h before KM + FU treatment reduces this damage, preserving OHCs and hearing.
Shengyu Zhou, Fan Wu, Qiaojun Fang, Zuhong He, Hongguo Su, Shan Xu, Su‐Hua Sha   +6 more
wiley   +1 more source

Deadly silence: the (lack of) access to information by deaf Brazilians in the context of Covid-19 pandemic

, 2022
Gabriel Silva Xavier Nascimento, Eliezer Willian Simões Nascimento Xavier, Sueli Salles Fidalgo   +2 more
openalex   +1 more source

Becoming conference interpreters: the deaf experience [PDF]

, 2018
Developing Deaf Interpreters Conference - University of Hamburg, Germany 25th - 26th May 2018In this article we consider the experience of two traditional ‘amateur’ Deaf interpreters working at an international conference within the context of the ...
Isari, Sofia, Stone, Christopher
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