Results 51 to 60 of about 208,758 (293)

A Human-Derived Monoclonal Antibody Targeting Extracellular Connexin Domain Selectively Modulates Hemichannel Function [PDF]

, 2019
Connexin hemichannels, which are plasma membrane hexameric channels (connexons) composed of connexin protein protomers, have been implicated in a host of physiological processes and pathological conditions. A number of single point pathological mutations
Buratto, Damiano, Carrer, Andrea, Chiani, Francesco, Kuang, Yuanyuan, Lerner, Richard A, Mammano, Fabio, Nardin, Chiara, Paludetti, Gaetano, Salvatore, Anna Maria, Xu, Liang, Yang, Guang, Ziraldo, Gaia, Zonta, Francesco   +12 more
core   +1 more source

m.10010T>C Mitochondrial Disease: A Case Report With Hypoparathyroidism and Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Mitochondria are essential intracellular organelles that play a critical role in cellular metabolism, including the regulation of intracellular calcium signaling. Advances in genomic sequencing have facilitated the identification of rare pathogenic mitochondrial DNA (mtDNA) genetic variants in patients with unexplained endocrine disorders.
Jacob Mohr, Anja Lisbeth Frederiksen, Morten Duno, Anne Pernille Hermann, Trine Maxel Juul, Simone Rask Nielsen   +5 more
wiley   +1 more source

Neuropathic Pain and Enlarged Nerves in Adult Noonan Syndrome and Noonan Syndrome With Multiple Lentigines: Health‐Related Quality of Life and Neurologic Symptoms

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Noonan syndrome (NS) and the clinically related Noonan syndrome with multiple lentigines (NSML) belong to the group of RASopathies. Although pain is not mentioned as a characteristic feature, it has recently been reported as a clinically significant problem.
Jos M. T. Draaisma, Wesley Reintjes, Erika Leenders, Fieke Draaisma, Melanie Burgers, Lotte Kleimeier, Marco Tartaglia, Merel Klaassens, Ruud Becks, Steven Renes, Ellen Wingbermühle, Nicol C. Voermans, Nens van Alfen   +12 more
wiley   +1 more source

Optimal management of Cogan’s syndrome: a multidisciplinary approach [PDF]

, 2017
Cogan's syndrome (CS) is a rare disorder characterized by nonsyphilitic interstitial keratitis (IK) and audio-vestibular symptoms. CS affects mainly young Caucasian adults, mostly during their first three decades of age, and may develop into typical and ...
D'Aguanno, Vittorio, de Vincentiis, Marco, Greco, Antonio, Ralli, Massimo   +3 more
core   +1 more source

Neurodevelopmental and Psychiatric Studies in Children and Adolescents With Neurofibromatosis Type I: A Comprehensive Scoping Review

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT A comprehensive synthesis of the broad range of neurodevelopmental and psychiatric manifestations in NF1 is needed to identify knowledge gaps and future directions for NF1 research. In the following scoping review, we identify and summarize the scope of research that examines neurodevelopmental and psychiatric manifestations, both as ...
Meera Chopra, Tin‐Suet Joan Lee, Jacob Vorstman, Patricia Parkin, Louise Gallagher, Aneta Krakowski   +5 more
wiley   +1 more source

The impact of face coverings on audio-visual contributions to communication with conversational speech

Cognitive Research
The use of face coverings can make communication more difficult by removing access to visual cues as well as affecting the physical transmission of speech sounds.
I. R. Jackson, E. Perugia, M. A. Stone, G. H. Saunders   +3 more
doaj   +1 more source

Cognitive skills and reading in adults with Usher syndrome type 2

Frontiers in Psychology, 2015
Objective: To investigate working memory, phonological skills, lexical skills, and reading comprehension in adults with Usher syndrome type 2 (USH2).Design: The participants performed tests of phonological processing, lexical access, working memory and ...
Cecilia eHenricson, Cecilia eHenricson, Cecilia eHenricson, Björn eLyxell, Björn eLyxell, Björn eLyxell, Björn eLidestam, Björn eLidestam, Björn eLidestam, Claes eMöller, Claes eMöller, Claes eMöller, Claes eMöller   +12 more
doaj   +1 more source

Analysis of ceiling effects occurring with speech recognition tests in adult cochlear-implanted patients [PDF]

, 2004
This article presents a simple method of analysing speech test scores which are biased through ceiling effects. Eighty postlingually deafened adults implanted with a MED-EL COMBI 40/40+ cochlear implant (CI) were administered a numbers test and a ...
Anderson, Ilona, Baumann, Uwe, D'Haese, Patrick, Esser, Barbara, Helms, Jan, Müller, Joachim, Schön, Franz, Specht, Hellmut von, Weichbold, Viktor, Ziese, Michael   +9 more
core   +1 more source

Feline Deafness [PDF]

Veterinary Clinics of North America: Small Animal Practice, 2012
Cats have among the best hearing of all mammals in that they are extremely sensitive to a broad range of frequencies. The ear is a highly complex structure that is delicately balanced in terms of its biochemistry, types of receptors, ion channels, mechanical properties, and cellular organization.
David K, Ryugo, Marilyn, Menotti-Raymond
openaire   +2 more sources

Cancer therapy‐induced ototoxicity: Current challenges and emerging management strategies

Animal Models and Experimental Medicine, EarlyView.
This review comprehensively examines the key risk factors for cancer therapy‐induced ototoxicity, including cumulative drug dose, genetic susceptibility, and combined treatment regimens. It highlights current challenges in ototoxicity monitoring, such as insufficient timeliness and limited clinical adoption, and advocates for standardized auditory ...
Yuqi Huang, Baoying Xu, Xinru Chen, Yu Chen, Dehong Yu   +4 more
wiley   +1 more source