Results 211 to 220 of about 173,415,106 (290)

Olfactory Function in Cystic Fibrosis: Outcome Measures, Olfactory Dysfunction Prevalence and the Impact of Management—A Systematic Review and Meta‐Analysis

International Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background Olfactory dysfunction (OD) is an increasingly recognized but under‐investigated comorbidity of cystic fibrosis (CF). Its prevalence, assessment methods, and response to CF‐directed treatment, including highly effective modulator therapy (HEMT) remains incompletely characterized.
Luca Cox, Kofi Cox, Katherine Whitcroft, Susanne Weise, Sonal Kansra, Eishaan Bhargava   +5 more
wiley   +1 more source

A rhesus macaque model of α‐dystroglycanopathy caused by a POMT1 splice altering variant

Animal Models and Experimental Medicine, EarlyView.
Rhesus macaques homozygous for a naturally occurring spice altering variant in the POMT1 gene develop lissencephaly, microphthalmia, and muscular contracture. The presentation models severe presentation of the human Walker‐Warburg syndrome. Abstract Background Biallelic mutations in genes associated with α‐dystroglycan glycosylation manifest in a ...
Anya Nordlund, Brian LaMendola, Nathan P. Crilly, Seth Kittle, Betsy M. Ferguson, Anne D. Lewis, Jeff Wall, Samuel M. Peterson   +7 more
wiley   +1 more source

Loss of heterozygosity in CCM2 cDNA revealing a structural variant causing multiple cerebral cavernous malformations. [PDF]

Eur J Hum Genet
Chaussenot A, Ayrignac X, Chatron N, Granchon-Riolzir T, Labauge P, Tournier-Lasserve E, Riant F.   +6 more
europepmc   +1 more source

Developing a strain‐dependent susceptibility to hepatocellular carcinoma in a murine model based on histopathological evidence and genetic context

Animal Models and Experimental Medicine, EarlyView.
Using F1 (C57BL/6J/Smad4+/− X CC) mice, we found that partial loss of Smad4 promotes liver carcinogenesis in a strain‐dependent manner, highlighting the importance of genetic modifiers in tumor susceptibility. The use of Collaborative Cross mice provides a valuable platform for uncovering genotype‐specific cancer susceptibilities in preclinical ...
Osayd Zohud, Aysar Nashef, Imad Abu‐Elnaaj, Fuad A. Iraqi   +3 more
wiley   +1 more source

Detecting HLA loss of heterozygosity within a standard diagnostic sequencing workflow for prognostic and therapeutic opportunities. [PDF]

NPJ Precis Oncol
Lozac'hmeur A, Danek T, Yang Q, Rosasco MG, Welch JS, Go WY, Ng EW, Mardiros A, Maloney DG, Garon EB, Kirtane K, Simeone DM, Molina JR, Salahudeen AA, Stein MM, Hecht JR.   +15 more
europepmc   +1 more source

Aortic valve disease: Novel animal models for advancing our understanding of the underlying mechanisms

Animal Models and Experimental Medicine, EarlyView.
Due to the complex pathophysiology of aortic valve disease (AVD) and the resulting lack of effective pharmacotherapy, existing animal models are valuable research tools, but each has its own strengths and limitations. This review systematically surveys the major AVD models, compares their induction methods, pathological features, advantages and ...
Liya Hou, Xue Liu, Wangxing Hu, Xianbao Liu, Wei Zhu   +4 more
wiley   +1 more source

Loss of Heterozygosity and Mutations in the RAS-ERK Pathway Genes in Tumor Cells of Various Loci in Multiple Myeloma. [PDF]

Int J Mol Sci
Soloveva M, Solovev M, Risinskaya N, Nikulina E, Yakutik I, Biderman B, Obukhova T, Chabaeva Y, Kulikov S, Sudarikov A, Mendeleeva L.   +10 more
europepmc   +1 more source

Biallelic PIGB Variants Cause Motor Neuropathy with Conduction Blocks and Peripheral Nerve Hyperexcitability

Annals of Neurology, EarlyView.
Objective Glycosylphosphatidylinositol (GPI)‐anchored proteins play critical roles in nervous system function. Pathogenic variants in genes involved in GPI‐anchor biosynthesis cause early‐onset multisystem disorders known as inherited GPI deficiencies. We describe a novel neuromuscular phenotype associated with PIGB deficiency.
Gorka Fernández‐Eulate, Romain Duval, Marina Konyukh, Alessandro Bertini, Ayse Candayan, Albena Jordanova, Theresa Brunet, Wolfgang Müller‐Felber, Helena F. Pernice, Katrin Hahn, Nadja Ehmke, Juliane Beuschlein, Bertrand Isidor, Benjamin Cogné, Yann Péréon, Annabelle Chaussenot, John Rendu, Aysylu Murtazina, Dmitrii Subbotin, Artem Borovikov, Andrey Marakhonov, Chiara Pisciotta, Paola Saveri, Daniele Cazzato, Lucie Lemeray, Bérengère Koehl, Jean‐Madeleine de Sainte‐Agathe, Stefano Facchini, Ilaria Quartesan, Andrea Cortese, Yesim Parman, Arman Cakar, Davide Pareyson, Slim Azouzi, Tanya Stojkovic   +34 more
wiley   +1 more source

Genome-wide loss of heterozygosity predicts aggressive, treatment-refractory behavior in pituitary neuroendocrine tumors. [PDF]

Acta Neuropathol
Lin AL, Rudneva VA, Richards AL, Zhang Y, Woo HJ, Cohen M, Tisnado J, Majd N, Wardlaw SL, Page-Wilson G, Sengupta S, Chow F, Goichot B, Ozer BH, Dietrich J, Nachtigall L, Desai A, Alano T, Ogilive S, Solit DB, Bale TA, Rosenblum M, Donoghue MTA, Geer EB, Tabar V.   +24 more
europepmc   +1 more source

Genetic Resilience and Resistance in Alzheimer's Disease Diagnosis and Pathology

Annals of Neurology, EarlyView.
Objective Some individuals avoid Alzheimer's disease (AD) pathology as they age, or retain cognition despite substantial pathology, suggesting mechanisms of resistance or resilience to neurodegeneration. Educational attainment (EA) is associated with reduced risk of cognitive decline, although the underlying mechanisms remain unclear.
Ganna Leonenko, Kalliopi Mavromati, Lynne Hughes, Jonas S. Sundarakumar, Keeley Brookes, Kevin Morgan, Terry Quinn, Valentina Escott‐Price, the Alzheimer's Disease Neuroimaging Initiative   +8 more
wiley   +1 more source