Results 21 to 30 of about 187,613 (226)

The case of a patient with MIRAGE syndrome with familial dysautonomia-like symptoms

Human Genome Variation, 2021
We describe a case of posthumously diagnosed MIRAGE syndrome (Myelodysplasia, Infection, Restriction of growth, Adrenal hypoplasia, Genital problems, and Enteropathy) in a girl with a new pathogenic SAMD9 variant (p.F437S), who was initially considered ...
Yuki Kawashima-Sonoyama, Keisuke Okuno, Tomotsune Dohmoto, Kanako Tanase-Nakao, Satoshi Narumi, Noriyuki Namba   +5 more
doaj   +1 more source

Induced pluripotent stem cell (iPSC) lines from two individuals carrying a homozygous (BGUi007-A) and a heterozygous (BGUi006-A) mutation in ELP1 for in vitro modeling of familial dysautonomia

Stem Cell Research, 2021
Familial Dysautonomia (FD) is an autosomal recessive congenital neuropathy affecting the development and function of the peripheral nervous system. FD causing gene is IKBKAP, encoding IkappaB kinase complex-associated protein also named elongator complex
Lior Dor, Tatiana Rabinski, Dor Zlotnik, Michal Shilian, Miguel Weil, Gad D. Vatine   +5 more
doaj   +1 more source

Renal disease in familial dysautonomia [PDF]

, 1980
Renal disease in familial dysautonomia. A study of renal disease in familial dysautonomia identified excess glomerulosclerosis in 10 of 13 autopsied and biopsied patients. Sympathetic nerve terminals could not be found on renal vessels in biopsied tissue;
Gluck, Melvin, Pearson, John, Gallo, Gloria, Axelrod, Felicia   +3 more
core   +1 more source

Case report: Perioperative management of a patient with familial dysautonomia

, 2021
Familial dysautonomia is a rare autosomal recessive neurodegenerative disease affecting cells of the autonomic nervous system. Patients with this disease are insensitive to pain but their autonomic nervous system is still activated with noxious stimuli ...
Minnea Kalra, Melodie Sarebanha, A Joseph Layon, Laura Valente, Ettore Crimi*   +4 more
core   +1 more source

Global perspective of familial hypercholesterolaemia: a cross-sectional study from the EAS Familial Hypercholesterolaemia Studies Collaboration (FHSC)

, 2021
Background: The European Atherosclerosis Society Familial Hypercholesterolaemia Studies Collaboration (FHSC) global registry provides a platform for the global surveillance of familial hypercholesterolaemia through harmonisation and pooling of ...
Borghi C, Biasucci G, EAS Familial Hypercholesterolaemia Studies Collaboration (FHSC)   +2 more
core   +1 more source

Height, weight, and body mass index in patients with familial dysautonomia.

PLoS ONE, 2023
BackgroundChildren with familial dysautonomia (FD) are smaller and grow more slowly than the general population. It is unknown whether this abnormal growth is due to comorbidities that patients with FD live with, or if it is a direct effect of the ...
Maria L Cotrina, Barr Morgenstein, Miguel Perez, Lucy Norcliffe-Kaufmann, Jose-Alberto Palma, Horacio Kaufmann   +5 more
doaj   +1 more source

Neuropathy in Val122Ile Hereditary Transthyretin (ATTR) Amyloidosis: A Multicenter Retrospective Cohort Study. [PDF]

J Peripher Nerv Syst
ABSTRACT Background and Aims The Val122Ile ATTR Amyloidosis has traditionally been linked to cardiac manifestations. Recent studies suggest that neuropathy may be relevant. In this study, we characterized its peripheral nerve manifestations in depth. Methods This was a national, multicenter, observational, retrospective study.
Paranhos AP, Costa MCM, Moreira CL, Dos Santos DF, França MC, de França Nunes RF, do Nascimento OJM, da Silva Batista JA, Cavalcanti EBU, Rodrigues CL, Chaves ÂVF, Kerstenetzky MS, de Brito LA, Marrone CD, Gonçalves MVM, Tomaselli PJ, Marques W.   +16 more
europepmc   +2 more sources

Loss of Elp1 disrupts trigeminal ganglion neurodevelopment in a model of familial dysautonomia

eLife, 2022
Familial dysautonomia (FD) is a sensory and autonomic neuropathy caused by mutations in elongator complex protein 1 (ELP1). FD patients have small trigeminal nerves and impaired facial pain and temperature perception.
Carrie E Leonard, Jolie Quiros, Frances Lefcort, Lisa A Taneyhill   +3 more
doaj   +1 more source

Elongator and codon bias regulate protein levels in mammalian peripheral neurons

Nature Communications, 2018
Familial dysautonomia is linked to mutations in IKBKAP, a scaffolding protein for the Elongator complex, which regulates codon-biased gene translation in yeast. Here the authors show in mammalian neurons that IKBKAP loss alters expression of codon-biased
Joy Goffena, Frances Lefcort, Yongqing Zhang, Elin Lehrmann, Marta Chaverra, Jehremy Felig, Joseph Walters, Richard Buksch, Kevin G. Becker, Lynn George   +9 more
doaj   +1 more source

Severe heart disease in an unusual case of familial amyloid polyneuropathy type I

Revista Portuguesa de Cardiologia, 2013
Familial amyloid polyneuropathy type I (FAP type I) is a rare hereditary systemic amyloidosis caused by the Val30Met mutation in the transthyretin (TTR) gene. The clinical onset and spectrum are variable and depend on phenotypic heterogeneity.
Miguel Oliveira Santos, Dulce Brito
doaj   +1 more source