Nonmuscle Myosin Heavy-Chain Gene MYH14 Is Expressed in Cochlea and Mutated in Patients Affected by Autosomal Dominant Hearing Impairment (DFNA4)

Francesca Donaudy, Rik L. Snoeckx, Markus Pfister, +16

The American Journal of Human Genetics

Patients AffectedGenetic DisorderGeneticsAudiologyAuditory Physiology +6

Monovalent cation leaks in human red cells caused by single amino-acid substitutions in the transport domain of the band 3 chloride-bicarbonate exchanger, AE1

Lesley J. Bruce, Hannah C Robinson, Hélène Guizouarn, +12

Nature Genetics

Molecular PhysiologySignal TransductionBiochemistryNatural SciencesMembrane Transport +9

A functional study of plasma-membrane calcium-pump isoform 2 mutants causing digenic deafness

Romina Ficarella, Francesca Di Leva, Mario Bortolozzi, +13

Proceedings of the National Academy of Sciences

GeneticsFunctional StudyCellular PhysiologyMendelian DisorderCa2+ Transients +15

Metabolic, Hormonal, Oxidative, and Inflammatory Factors in Pediatric Obesity-related Liver Disease

Claudia Mandato, Stefania Lucariello, Maria Rosario Licenziati, +8

The Journal of Pediatrics

Metabolic DisorderFatty Liver DiseaseOxidative StressObesityMetabolic Syndrome +15

Correction of intermittent hypoxia reduces inflammation in obese subjects with obstructive sleep apnea

Sebastio Perrini, Angelo Cignarelli, Vitaliano Nicola Quaranta, +13

JCI Insight

Differences in Gene Expression and Cytokine Release Profiles Highlight the Heterogeneity of Distinct Subsets of Adipose Tissue-Derived Stem Cells in the Subcutaneous and Visceral Adipose Tissue in Humans

Sebastio Perrini, Romina Ficarella, Ernesto Picardi, +11

PLoS ONE

Visceral Adipose TissueAdult Stem CellTranscriptomics TechnologyGene CharacterizationGene Expression Profiling +18

Genetic Pattern, Orthodontic and Surgical Management of Multiple Supplementary Impacted Teeth in a Rare, Cleidocranial Dysplasia Patient: A Case Report

Alessio Danilo Inchingolo, Assunta Patano, Giovanni Coloccia, +18

Medicina

Regulation of the biogenesis of OXPHOS complexes in cell transition from replicating to quiescent state

Anna Signorile, Loris Micelli, Domenico De Rasmo, +6

Biochimica et Biophysica Acta (BBA) - Molecular Cell Research

BiosynthesisCell DivisionBiochemistryMedicineNatural Sciences +10

D184E mutation in aquaporin-4 gene impairs water permeability and links to deafness

Grazia Paola Nicchia, Romina Ficarella, Andrea Rossi, +8

Neuroscience

BiologyOsmotic StressD184e MutationGeneticsPathogenesis +4

NANOG Plays a Hierarchical Role in the Transcription Network Regulating the Pluripotency and Plasticity of Adipose Tissue-Derived Stem Cells

Maria Pitrone, Giuseppe Pizzolanti, Laura Tomasello, +8

International Journal of Molecular Sciences