Results 141 to 150 of about 47,561 (284)

Screening for sensorineural deafness by health visitors. The Steering Committee, Oxford Region Child Development Project. [PDF]

, 1990
Margaret Johnson, Hazel Ashurst
openalex   +1 more source

Pathogenic variants in chromatin‐related genes: Linking immune dysregulation to neuroregression and acute neuropsychiatric disorders

Developmental Medicine &Child Neurology, EarlyView.
Chromatin machinery influences how DNA is ‘wrapped’ around histones in the nucleosome of immune and brain cells. Plain language summary: https://onlinelibrary.wiley.com/doi/10.1111/dmcn.16299 Abstract We report eight children with de novo pathogenic DNA variants in chromatin‐related genes: MORC2, CHD7, KANSL1, KMT2D, ZMYND11, HIST1HIE, EP300, and KMT2B.
Russell C. Dale, Shekeeb Mohammad, Velda X. Han, Hiroya Nishida, Himanshu Goel, Stuart G. Tangye, Georgina Hollway, Esther Tantsis, Deepak Gill, Shrujna Patel, Chromatin Immune‐Brain Group, Michael Lonergan, Melanie Wong, Kavitha Kothur, Erica Tsang   +14 more
wiley   +1 more source

The effect of blood glucose and lipid risk factors on idiopathic sudden sensorineural hearing loss: A two-sample Mendelian randomization study. [PDF]

Braz J Otorhinolaryngol
Deng BY, Zhao YX, Liu JS.
europepmc   +1 more source

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

Haploinsufficiency of Whrn Contributes to Progressive Sensorineural Hearing Loss in C57BL6 Mice. [PDF]

J Assoc Res Otolaryngol
Bae HG, Kashiwagura S, Jung A, Gould E, Kim JH.   +4 more
europepmc   +1 more source

Otitis media and congenital perilymphatic fistula as a cause of sensorineural hearing loss in children

, 1988
Charles D. Bluestone
openalex   +1 more source

Sensorineural hearing loss from quinolinic acid: A neurotoxin in middle ear effusions [PDF]

, 1994
Robert F. Yellon, Elizabeth Kirk Rose, Margaret A. Kenna, William J. Doyle, Margaretha L. Casselbrant, Warren F. Diven, Theresa L. Whiteside, J. Douglas Swarts, Melvyn P. Heyes   +8 more
openalex   +1 more source

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

Diagnosis of a patient with severe sensorineural hearing loss as the initial symptom caused by novel compound heterozygous variant in SLA19A2 gene. [PDF]

Braz J Otorhinolaryngol
Shi Y, Li J, Chen X, Li N, Yang S, Li Y, Zhou M.   +6 more
europepmc   +1 more source

Familial spastic paraplegia, bilateral sensorineural deafness, and intellectual retardation associated with a progressive nephropathy.

, 1988
J S Fitzsimmons, Alan R. Watson, David Mellor, P Guilbert   +3 more
openalex   +1 more source