Results 111 to 120 of about 187,613 (226)

Weak definition of IKBKAP exon 20 leads to aberrant splicing in familial dysautonomia.

, 2006
Splicing mutations that lead to devastating genetic diseases are often located in nonconserved or weakly conserved sequences that normally do not affect splicing. Thus, the underlying reason for the splicing defect is not immediately obvious.
Reed, Robin, Burge, Chris B., Shomron, Noam, Burge, Christopher B, Hims, Matthew M., Slaugenhaupt, Susan A, Ibrahim, El Chérif, Slaugenhaupt, Susan A., Hims, Matthew M   +8 more
core   +1 more source

RBM24 promotes U1 snRNP recognition of the mutated 5′ splice site in theIKBKAPgene of familial dysautonomia

, 2017
The 5′ splice site mutation (IVS20+6T>C) of theinhibitor of κ light polypeptide gene enhancer in B cells, kinase complex-associated protein(IKBKAP) gene in familial dysautonomia (FD) is at the sixth intronic nucleotide of the 5′ splice site.
Masatoshi Hagiwara, Kensuke Ninomiya, Kenji Ohe, Motoyasu Hosokawa, Akiko Nakano-Kobayashi, Mayumi Yoshida, Yukiya Sako, Naoyuki Kataoka, Maki Sakuma, Yukiko Okuno, Takayuki Nojima, Tomomi Usui   +11 more
core   +1 more source

Commentary: Congenital corneal anesthesia: A rare form of type-4 familial dysautonomia

Indian Journal of Ophthalmology, 2022
Muralidhar Ramappa, Sunita Chaurasia, Lokesh Lingappa, Srinivas Namineni, Deepak P Edward   +4 more
doaj   +1 more source

A large pericardial effusion and bilateral pleural effusions as the initial manifestations of Familial Mediterranean Fever [PDF]

, 2015
Familial Mediterranean Fever (FMF) is a condition characterized by recurrent febrile poly-serositis. Typical presentations of the disease include episodes of fever, abdominal pain and joint pains. Chest pain is a less common presentation.
Mallia, Carmel, Mifsud, Simon, Cassar Demarco, Daniela, Coleiro, Bernard, Schembri, Emma Louise   +4 more
core  

Retrograde nerve growth factor signaling abnormalities and the pathogenesis of familial dysautonomia

Neural Regeneration Research, 2021
Soumitra Ghosh, Lin Li, Warren G Tourtellotte   +2 more
doaj   +1 more source

Modelling familial dysautonomia in human induced pluripotent stem cells

, 2011
Induced pluripotent stem (iPS) cells have considerable promise as a novel tool for modelling human disease and for drug discovery. While the generation of disease-specific iPS cells has become routine, realizing the potential of iPS cells in disease ...
Gabsang Lee, Lorenz Studer
core   +1 more source

Genotype and Phenotype in Familial Dysautonomia

, 1997
Publisher Summary Clinical features of familial dysautonomia (FD) encompass sensory and autonomic disturbances. Consistent peripheral neuropathologic findings suggest arrested development of the unmyelinated neuronal population, as well as progressive neurological deterioration.
F B, Axelrod, D S, Goldstein, C, Holmes, I J, Kopin   +3 more
openaire   +2 more sources

Unilateral Freezing of Gait in Normal Pressure Hydrocephalus after Stroke

Movement Disorders Clinical Practice, Volume 13, Issue 9, Page 2275-2277, September 2026.
Jose Portales, Matthew Feldman, Jason Margolesky   +2 more
wiley   +1 more source

Sex Influences Gut Microbial Composition in Mice with Familial Dysautonomia but is not the Primary Determinant of Microbial Functional Diversity

Familial dysautonomia is a genetic neurological disease characterized by impaired nervous system functions due to a mutation of Elongator acetyltransferase Complex subunit 1.
Lin, Zhuohui, Yeung, Hau Lam, Li, Alisa, Jang, Min Jeong, Kwon, Hyojin   +4 more
core  

ELP1’s Role in Cerebellar Development: Implications for Familial Dysautonomia and SHH-Medulloblastoma

The cerebellum plays a pivotal role in the coordination of motor movement, behavior, and language. Abnormalities in cerebellar development can have two opposing, catastrophic effects.
Arnskötter, Carl Frederik
core   +1 more source