Results 191 to 200 of about 149,128 (273)

Association of Metabolic Syndrome With Sudden Sensorineural Hearing Loss

JAMA Otolaryngology - Head and Neck Surgery, 2018
S. Y. Jung, H. Shim, Y. Hah, Sang Hoon Kim, S. Yeo   +4 more
semanticscholar   +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

Cochlear synaptopathy in acquired sensorineural hearing loss: Manifestations and mechanisms

Hearing Research, 2017
M. Liberman, S. Kujawa
semanticscholar   +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

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

Examining the association between placental malperfusion assessed by histopathological examination and child and adolescent neurodevelopment: a systematic review

Journal of Child Psychology and Psychiatry, EarlyView.
Background Placental malperfusion, categorised into maternal vascular malperfusion (MVM) and foetal vascular malperfusion (FVM), is a main placental pathology known to affect placental functioning and offspring outcomes. The aim of this review is to evaluate the association between exposure to placental malperfusion and offspring neurodevelopment from ...
Noha Ibrahim, Sydni A. Weissgold, Lucy Brink, Ibtihal Mahgoub, Ben Carter, Vaheshta Sethna, Hein Odendaal   +6 more
wiley   +1 more source

Large Vestibular Aqueduct Syndrome Causing Progressive Hearing Loss in Childhood Article

Pakistan Journal of Medicine and Dentistry
Background: Sensorineural hearing loss in adults is commonly associated with aging, trauma or autoimmune disease. In children, however, sensorineural hearing loss can also be due to genetic causes, leading to malformation of internal ear structures ...
Salman Baig, Sana Ansari, Nash Patel, Nial Considine   +3 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

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

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