Results 21 to 30 of about 1,641 (164)

Combinatorial treatment increases IKAP levels in human cells generated from Familial Dysautonomia patients.

PLoS ONE, 2019
Familial Dysautonomia (FD) is an autosomal recessive congenital neuropathy that results from a point mutation at the 5' splice site of intron 20 in the IKBKAP gene.
Sivan Yannai, Jonathan Zonszain, Maya Donyo, Gil Ast   +3 more
doaj   +2 more sources

Association between IKBKAP polymorphisms and Hirschsprung's disease susceptibility in Chinese children. [PDF]

Transl Pediatr, 2022
Hirschsprung's disease (HSCR) is a rare congenital disease in which enteric nervous system (ENS) in the distal intestine is absent. HSCR is a disease involving genetic factors and environmental factors. Despite a series of genes have been revealed to contribute to HSCR, many HSCR associated genes were yet not identified. Previous studies had identified
Wang N, Xi J, Lan C, Wu Y, Zhu Y, Zuo X, Zhang Y.   +6 more
europepmc   +3 more sources

Pathway Analyses of Inherited Neuropathies Identify Putative Common Mechanisms of Axon Degeneration. [PDF]

Ann Clin Transl Neurol
ABSTRACT Objective Inherited neuropathies (IN) are associated with over 100 different genetic mutations presenting with a variety of phenotypes. This complexity suggests multiple pathways may converge onto a limited number of downstream pathways to effect axonal injury.
Cashman CR, Blackstone C, Sadjadi R.
europepmc   +2 more sources

Elp1 function in placode-derived neurons is critical for proper trigeminal ganglion development. [PDF]

Dev Dyn
Abstract Background The trigeminal nerve is the largest cranial nerve and functions in somatosensation. Cell bodies of this nerve are positioned in the trigeminal ganglion, which arises from the coalescence of neural crest and placode cells. While this dual cellular origin has been known for decades, the molecular mechanisms controlling trigeminal ...
Hines MA, Taneyhill LA.
europepmc   +2 more sources

Loss of Mouse Ikbkap, a Subunit of Elongator, Leads to Transcriptional Deficits and Embryonic Lethality That Can Be Rescued by Human IKBKAP [PDF]

Molecular and Cellular Biology, 2009
Familial dysautonomia (FD), a devastating hereditary sensory and autonomic neuropathy, results from an intronic mutation in the IKBKAP gene that disrupts normal mRNA splicing and leads to tissue-specific reduction of IKBKAP protein (IKAP) in the nervous system.
Yei-Tsung, Chen, Matthew M, Hims, Ranjit S, Shetty, James, Mull, Lijuan, Liu, Maire, Leyne, Susan A, Slaugenhaupt   +6 more
openaire   +2 more sources

An overview of reproductive carrier screening panels for autosomal recessive and/or X‐linked conditions: How much do we know?

Prenatal Diagnosis, Volume 43, Issue 11, Page 1416-1424, October 2023., 2023
Abstract Background & Aim Reproductive carrier screening seeks to identify couples at a high risk of having offspring affected by autosomal recessive and X‐linked (XL) conditions. The aim of this paper is to provide a comprehensive overview of existing carrier screening panels by examining their gene content and characteristics, identifying the most ...
Tianjiao Wang, Paul Scuffham, Joshua Byrnes, Martin B. Delatycki, Martin Downes   +4 more
wiley   +1 more source

Characterization of a novel heterozygous variant in the histidyl-tRNA synthetase gene associated with Charcot-Marie-Tooth disease type 2W. [PDF]

IUBMB Life
Abstract Heterozygous pathogenic variants in the histidyl‐tRNA synthetase (HARS) gene are associated with Charcot–Marie–Tooth (CMT) type 2W disease, classified as an axonal peripheral neuropathy. To date, at least 60 variants causing CMT symptoms have been identified in seven different aminoacyl‐tRNA synthetases, with eight being found in the catalytic
Wilhelm SDP, Moresco AA, Rivero AD, Siu VM, Heinemann IU.   +4 more
europepmc   +2 more sources

DNMT1‐associated sensory neuropathy and cerebellar ataxia: A novel variant and review of genotype–phenotype correlation

Journal of the Peripheral Nervous System, Volume 28, Issue 3, Page 508-512, September 2023., 2023
Abstract Aim Hereditary sensory neuropathy (HSN) 1E is a neurodegenerative disorder caused by pathogenic variants in DNA methyltransferase 1 (DNMT1). It is characterised by sensorineural deafness, sensory neuropathy and cognitive decline. Variants in DNMT1 are also associated with autosomal dominant cerebellar ataxia, deafness and narcolepsy. Methods A
Poornima Jayadev Menon, Petya Bogdanova‐Mihaylova, Garret McDermott, Paul Crowley, Ronan P. Killeen, Michael D. Alexander, Sean O'Dowd, Sinéad M. Murphy   +7 more
wiley   +1 more source

Expanded carrier screening: What conditions should we screen for?

Prenatal Diagnosis, Volume 43, Issue 4, Page 496-505, April 2023., 2023
Abstract Carrier screening tests reproductive couples for their risk of having children affected by serious monogenic conditions. Carrier screening has historically been offered for certain conditions in high‐risk populations. However, more recent evidence has shown that offering carrier screening to all patients, regardless of their ethnicity, more ...
James D. Goldberg, Summer Pierson, Katherine Johansen Taber   +2 more
wiley   +1 more source

Recent advances in the molecular understanding of medulloblastoma

Cancer Science, Volume 114, Issue 3, Page 741-749, March 2023., 2023
Recent intensive genomics has greatly contributed to our understanding of medulloblastoma pathogenesis. Sequencing studies identified novel mutations involved in the cyclic AMP‐dependent pathway or RNA processing in the Sonic Hedgehog (SHH) subgroup, and core‐binding factor subunit alpha (CBFA) complex in the group 4 subgroup.
Yusuke Funakoshi, Yuriko Sugihara, Atsuhito Uneda, Takuma Nakashima, Hiromichi Suzuki   +4 more
wiley   +1 more source