Results 51 to 60 of about 30,581 (134)

Expanding the SIAH1‐Associated Phenotypic Spectrum: Insights From Loss‐of‐Function Variants

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT SIAH1 encodes for a RING‐type E3 ubiquitin ligase involved in protein ubiquitination. More specifically, it positively regulates Wnt signaling through promoting the accumulation of β‐catenin and mediates ubiquitination and degradation of Akt3 in neural development.
Liza Douiev, Paula Fernandez Alvarez, Marika Frank, Lucy Hanington, Trevor L. Hoffman, Mira B. Irons, Jenny Kim, Akash Kumar, Amaia Lasa‐Aranzasti, Diana Le Duc, Helen Livesey, Oliver Murch, Deborah Shears, Brandon K. Walther, Tamar Harel   +14 more
wiley   +1 more source

Mild hearing loss: performance in the Sustained Auditory Attention Ability Test [PDF]

, 2010
TEMA: a perda auditiva na infância é um fator de risco para o atraso no desenvolvimento. OBJETIVO: verificar o desempenho de crianças diagnosticadas com perda auditiva de grau leve - condutiva e sensorioneural, no Teste da Habilidade de Atenção Auditiva ...
CARVALHO, Fernanda Ribeiro Pinto de, FENIMAN, Mariza Ribeiro, LAURIS, José Roberto Pereira, MONDELLI, Maria Fernanda Capoani Garcia   +3 more
core   +2 more sources

Survivorship of Individuals With Double Heterozygosity for Achondroplasia and Type 2 Collagenopathy

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Historically, double heterozygosity, or a diagnosis of two separate, dominant genetic conditions, was often thought to be lethal in individuals with autosomal dominant skeletal dysplasias. In previously published studies of individuals with dual dysplasia diagnoses of achondroplasia and type 2 collagenopathy, infants died of respiratory ...
Valerie R. Schwartz, Andrea Schelhaas, Angela L. Duker, Ricki S. Carroll   +3 more
wiley   +1 more source

Congenital rubella syndrome in Iran [PDF]

, 2005
BACKGROUND: Congenital rubella syndrome (CRS) can be prevented with appropriate vaccination programs. The prevalence rates of rubella and CRS in Iran are unknown; therefore, the risk of exposure in pregnant women is not clear.
A Galazka, American Academy of Pediatrics Committee on Infectious Diseases, CI Miller, E Miller, F Rahimi, FT Cutts, Hasan Eftekhar, JAA Mingle, Jila Sadighi, JL Northern, K Naficy, Kazem Mohammad, KL Herrmann, M Kabiri, Ministry of Health and Medical Education, P Pakzad, S Modarres, S Saidi, SR Preblud, WE Nelson, WE Nelson, World Health Organization, World Health Organization (EPIGAG)   +22 more
core   +3 more sources

Combined Immediate‐Release and Extended‐Release Formulation of Sodium Valproate Provides Stable Plasma Levels for Inhibition of Histone Deacetylation

Clinical Pharmacology in Drug Development, EarlyView.
Abstract A modified controlled‐release sodium valproate formulation (VAL001, test) was compared with an approved enteric‐coated tablet formulation (Absenor, reference). Pharmacokinetics and safety/tolerability were evaluated in healthy subjects to bridge with positive efficacy results from an early‐phase patient trial of valproate in combination with ...
Nikhil Ahuja, Susanna Kääriäinen, Zsófia Lovró, Mia Lundblad, Kristina Drott, Elsa Lilienberg, Marica T. Engström, Karla Saukkonen, Mika Scheinin   +8 more
wiley   +1 more source

Motor Development and Postural Control Evaluation of Children With Sensorineural Hearing Loss: A Review of Three Inexpensive Assessment Tools-Pbs, Tgmd-2, And P-Ctsib [PDF]

, 2010
ObjectiveSensorineural hearing loss is believed to be the result of a physiologic malfunction in the inner ear or acoustic nerve. Depending on the rapidity of progression and severity, sensorineural hearing loss can be endlessly annoying, frightening and
FINITA, Glory Roy, VENKADESAN, Rajendran
core   +2 more sources

A novel transgenic reporter of extracellular acidification in zebrafish elucidates skeletal muscle T‐tubule pH regulation

Developmental Dynamics, EarlyView.
Abstract Disruption of extracellular pH and proton‐sensing can profoundly impact cellular and protein functions, leading to developmental defects. To visualize changes in extracellular pH in the developing embryo, we generated a zebrafish transgenic line that ubiquitously expresses the ratiometric pH‐sensitive fluorescent protein pHluorin2, tethered to
Leif R. Neitzel, Maya Silver, Aaron H. Wasserman, Samantha Rea, Charles C. Hong, Charles H. Williams   +5 more
wiley   +1 more source

Sudden Sensorineural Hearing Loss [PDF]

, 2017
Sudden hearing loss (SHL) is a common disease in the daily practice of ear-nose-throat (ENT) and audiology clinics. It is usually defined as a sensorineural type hearing loss of 30 dB or greater in three contiguous frequencies.
Acıpayam, Harun, Elbistanlı, Mustafa Suphi, Koçak, Hasan Emre   +2 more
core   +2 more sources

Applications and Challenges of Auditory Brain‐Computer Interfaces in Objective Auditory Assessments for Pediatric Cochlear Implants

Exploration, EarlyView.
Auditory brain‐computer interface connects the brain with external devices and decodes neural signals related to auditory perception. Time‐domain and frequency‐domain analyses are commonly used to identify biomarkers associated with auditory rehabilitation, such as cortical auditory evoked potentials and mismatch negativity.
Qi Zheng, Yubo Wu, Jianing Zhu, Kunyun Feng, Yanru Bai, Guoping Li, Guangjian Ni   +6 more
wiley   +1 more source

Sensorineural hearing loss in Lassa fever: two case reports [PDF]

, 2009
Introduction Lassa fever is an acute arena viral haemorrhagic fever with varied neurological sequelae. Sensorineural hearing loss is one of the rare complications which occur usually during the convalescent stage of the infection.
A Ceylan, AM Macher, BS Liao, CA Buchman, D Cummins, George O. Akpede, L Cvorović, LE Okoror, LP Rybak, M Jadczak, P Emmerich, Peter O. Okokhere, RP Finger, S Günther, Titus S. Ibekwe, TW Geisbert, WHO   +16 more
core   +3 more sources