Results 131 to 140 of about 70,389 (297)
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT The transformation/transcription domain‐associated protein (TRRAP) gene encodes a large multidomain protein, a member of the phosphatidylinositol 3‐kinase‐related kinase (PIKK) family. TRRAP is a component of the histone acetyltransferase (HAT) complex, and it plays an important role in gene transcription, DNA repair, and cell‐cycle regulation.
Roseli Maria Zechi‐Ceide +10 more
wiley +1 more source
Pathophysiology of nasal congestion
, 2010 Robert M Naclerio1, Claus Bachert2, James N Baraniuk31University of Chicago, Department of Surgery, Section of Otolaryngology – Head and Neck Surgery, Chicago, Illinois, USA; 2University of Ghent, Ghent, Belgium; 3Georgetown University ...
James N Baraniuk +2 more
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American Journal of Medical Genetics Part A, EarlyView.ABSTRACT U2 small nuclear RNA auxiliary factor 2 (U2AF2) is an essential pre‐mRNA splicing factor involved in the early stages of pre‐mRNA splicing. To date, multiple individuals have been reported with predominantly heterozygous missense variants presenting intellectual disability, speech and motor delays, seizures, hypotonia, and thin or hypoplastic ...
Amanda Toledo +3 more
wiley +1 more source
Nasal obstruction and its impact on sleep-related breathing disorders.
, 2005 Upper airway patency is essential during sleep in order to avoid sleep-related breathing disorders (SRBD). Nasal obstruction may have a negative impact on sleep quality and must be considered to be a co-factor in the pathophysiology of SRBD.
Hamoir, Marc +6 more
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Development of the Nasal Obstruction Disability Index (NODI)
Purpose: The aim of this study was to develop a new scale that assesses the subjective severity of nasal obstruction from functional and psychosocial perspectives, independent of etiology.
Corakci, Onur +3 more
core +1 more source
Therapy for Myhre Syndrome: Goals, Misconceptions, and Current Agents
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT Myhre Syndrome (MYHRS, MIM #139210) is a rare, multisystem connective tissue disorder caused by recurrent heterozygous gain‐of‐function pathogenic variants in the SMAD4 gene, a key player in TGF‐β signaling and a regulator of extracellular matrix homeostasis.
Alessandro De Falco +2 more
wiley +1 more source
Nasal Airway Obstruction and the Quality of Life
, 2016 The objective of this study was to estimate the prevalence of nasal airway obstruction among patients attending the dental clinic of Ajman University of Science & Technology (AUST) (Fujairah Campus/UAE) and how it affects their quality of life.
K. Al Shaban, Kashef, M. Abdullah, Fanar
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International Forum of Allergy &Rhinology, EarlyView.ABSTRACT Background The indication for nasal irrigation with corticosteroids after sinus surgery in patients with Chronic Rhinosinusitis with Nasal Polyps (CRSwNP) is well established, as surgery facilitates distribution throughout the sinonasal cavity.
Juliana Sant'Ana +5 more
wiley +1 more source
, 2001 The aim of this study was to evaluate the improvement of nasal flow and the fall of nasal resistance in 50 patients that underwent rhinoseptoplasty in our department and discuss the relative importance of valvular and septal deformities in nasal airway ...
STAFFIERI, ALBERTO +8 more
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Rationale of New Grading System: Central Compartment Atopic Disease
International Forum of Allergy &Rhinology, EarlyView.ABSTRACT Background Central compartment atopic disease (CCAD) has recently been recognized as a distinct phenotype within the spectrum of type 2–dominant chronic rhinosinusitis (CRS). Although international guidelines highlight polypoid changes in the central nasal cavity, standardized diagnostic and classification criteria are still lacking.
Ramón Moreno‐Luna +11 more
wiley +1 more source