Results 131 to 140 of about 31,332 (279)

d‐amino acids: new functional insights

The FEBS Journal, EarlyView.
This review explores recent advances in understanding d‐amino acids (d‐AAs) and their pivotal roles across organisms, from plants to humans. d‐AAs have been implicated in key physiological processes, including cancer, inflammation, immune regulation, kidney disease, diabetes, and nervous system function.
Loredano Pollegioni, Natasa Kustrimovic, Luciano Piubelli, Elena Rosini, Valentina Rabattoni, Silvia Sacchi   +5 more
wiley   +1 more source

When alarm bells ring: emergency tinnitus [PDF]

, 2016
OBJECTIVE: The aim of this study is to develop a diagnostic-therapeutic algorithm for those suffering from tinnitus who seek emergency aid. MATERIALS AND METHODS: A literature review has been performed on articles from the last 30 years. RESULTS: It is
Altissimi, Giancarlo, Cianfrone, Giancarlo, Ciofalo, Andrea, Greco, Antonio, Marinelli, C, Mazzei, F, Orlando, Maria Patrizia, Salviati, M, Testugini, C, Turchetta, Rosaria, Vincentiis, M. DE   +10 more
core  

Evaluation of the Effect of Drilling on Hearing in Ear Surgery

Bengal Journal of Otolaryngology and Head Neck Surgery, 2014
Aim To evaluate and assess the effect of micro drilling on sensorineural hearing loss in mastoid surgery in ipsilateral and/or contralateral ear and to find out the reasons for such a disaster.
Souvik Kumar Pal
doaj  

Transcription‐coupled repair: tangled up in convoluted repair

The FEBS Journal, EarlyView.
In this review, we discuss recent findings derived from diverse genomic, biochemical and structural, imaging, and functional studies (B–E) that culminated in deep mechanistic insight (A) into the vital cellular process of transcription‐coupled nucleotide excision repair (TC‐NER).
Diana A. Llerena Schiffmacher, Yun Jin Pai, Alex Pines, Wim Vermeulen   +3 more
wiley   +1 more source

Clinical and genetic characteristics of a patient with phosphoribosyl pyrophosphate synthetase 1 deficiency and a systematic literature review

Molecular Genetics and Metabolism Reports, 2023
Phosphoribosylpyrophosphate synthetase 1 (PRSI) is an enzyme involved in nucleotide metabolism. Pathogenic variants in the PRPS1 are rare and PRS-I deficiency can manifest as three clinical syndromes: X-linked non-syndromic sensorineural deafness (DFN2),
Katarina Štajer, Neja Kovač, Jaka Šikonja, Matej Mlinarič, Sara Bertok, Jernej Brecelj, Maruša Debeljak, Jernej Kovač, Gašper Markelj, David Neubauer, Rina Rus, Mojca Žerjav Tanšek, Ana Drole Torkar, Aleksandra Zver, Tadej Battelino, Rosa Jiménez Torres, Urh Grošelj   +16 more
doaj  

PIK3R1 mutations in individuals with insulin resistance or growth retardation: Case series and in silico functional analysis

Journal of Diabetes Investigation, EarlyView.
We present a report on SHORT syndrome caused by PIK3R1 mutations, including findings from in silico analysis. Our results demonstrate that these mutations impair the ability of p85α to interact with phosphopeptides. ABSTRACT Aims/Introduction Phosphatidylinositol 3‐kinase (PI3K) plays a key role in insulin signaling, and mutations in PIK3R1, which ...
Tomofumi Takayoshi, Yushi Hirota, Aki Sugano, Kenji Sugawara, Takehito Takeuchi, Mika Ohta, Kai Yoshimura, Seiji Nishikage, Akane Yamamoto, Yu Mimura, Shinji Higuchi, Jun Mori, Rie Kawakita, Tohru Yorifuji, Yutaka Takaoka, Wataru Ogawa   +15 more
wiley   +1 more source

Familial Progressive Sensorineural Deafness Is Mainly Due to the mtDNA A1555G Mutation and Is Enhanced by Treatment with Aminoglycosides [PDF]

, 1998
Xavier Estivill, Nancy Govea, Anna Barceló, E Perelló, Célia Bádenas, E. herrera romero, Luis Moral, Rosaria Scozzari, Leila D'Urbano, Massimo Zeviani, Antonio Torroni   +10 more
openalex   +1 more source

A case of SHORT syndrome with a novel genetic mutation diagnosed 19 years after the onset of diabetes

Journal of Diabetes Investigation, EarlyView.
We report a case of SHORT syndrome caused by a novel PIK3R1 mutation. The diagnosis of SHORT syndrome was made based on typical clinical features suggestive of the syndrome. ABSTRACT A 33‐year‐old man presented with short stature, thin build, hearing impairment, Rieger anomaly, and a history of inguinal hernia.
Kumiko Tajima, Yushi Hirota, Tomofumi Takayoshi, Wataru Ogawa   +3 more
wiley   +1 more source

Sensorineural deafness. [PDF]

BMJ, 1990
openaire   +2 more sources

Cognitive and Behavioural Associations of Visual and Hearing Impairments Across the Lifespan in People With Down Syndrome, a Scoping Review

Journal of Intellectual Disability Research, EarlyView.
ABSTRACT Background Hearing and visual impairments are common in individuals with Down syndrome (DS), yet it remains unclear whether sensory impairments are associated with cognitive and behavioural functioning such as language, memory and socialisation. This literature review examines those associations.
Nicolo J. Betoni, Cynthia M. Okamoto, Ira T. Lott, Christy L. Hom   +3 more
wiley   +1 more source