Abstracts - faqs.org

Abstracts

Biological sciences

Search abstracts:
Abstracts » Biological sciences

Escobar syndrome is a prenatal myasthenia caused by disruption of the acetylcholine receptor fetal gamma subunit

Article Abstract:

Linkage studies are performed in families with Escobar syndrome and eight mutations are identified within the gamma-subunit gene (CHRNG) of the acetylcholine receptor (AChR). The results have shown that Escobar syndrome is an inherited fetal myasthenic disease that also affects neuromuscular organogenesis and as gamma expression is restricted to early development, patients have no myasthenic symptoms later in life.

Author: Lochmuller, Hanns, Hubner, Christoph, Hoffmann, Katrin, Muller, Juliane S., Stricker, Sigmar, Megarbane, Andre, Rajab, Anna, Lindner, Tom H., Cohen, Monika, Chouery, Eliane, Adaimy, Lynn, Ghanem, Ismat, Boltshauser, Eugen, Talim, Beril, Horvath, Rita, Delague, Valerie, Robinson, Peter N., Mundlos, Stefan
Publisher: University of Chicago Press
Publication Name: American Journal of Human Genetics
Subject: Biological sciences
ISSN: 0002-9297
Year: 2006
Gene mutations, Gene mutation, Myasthenia gravis

User Contributions:

Comment about this article or add new information about this topic:

CAPTCHA


Acetylcholine receptor pathway mutations explain various fetal akinesia deformation sequence disorders

Article Abstract:

The pathway mutations associated with the acetylcholine receptor (AChR) are studied to explain the various fetal akinesia deformation sequence (FADs) disorders. Severe alterations in the AChR lead to lethal multiple pterygium syndrome, whereas minor changes lead to fetal hypokinesia.

Author: Hoffmann, Katrin, Stricker, Sigmar, Mundlos, Stefan, Ott, Claus-Eric, Seelow, Dominik, Michalk, Anne, Becker, Jutta, Rupps, Rosemarie, Pantzar, Tapio, Miertus, Jan, Botta, Giovanni, Naretto, Valeria G., Janetzki, Catrin, Yaqoob, Nausheen, Wieczorek, Dagmar, Fiebig, Britta, Wirth, Brunhilde, Hoopmann, Markus, Walther, Marisa, Korber, Friederike, Blankenburg, Markus, Heller, Raoul
Publisher: University of Chicago Press
Publication Name: American Journal of Human Genetics
Subject: Biological sciences
ISSN: 0002-9297
Year: 2008
Physiological aspects, Akinesia

User Contributions:

Comment about this article or add new information about this topic:

CAPTCHA


Mutation in WNT10A is associated with an autosomal recessive ectodermal dysplasia: the odonto-onycho-dermal dysplasia

Article Abstract:

A study on Lebanese Muslim family who were affected with odonto-onycho-dermal dysplasia was conducted. Result show an ectodermal dysplasia caused by an altered WNT signaling pathway.

Author: Megarbane, Andre, Chouery, Eliane, Adaimy, Lynn, Delague, Valerie, Belguith, Hanen, Mazancourt, Philippe de, Megarbane, Hala, Mroueh, Salman, Nicolas, Elsa
Publisher: University of Chicago Press
Publication Name: American Journal of Human Genetics
Subject: Biological sciences
ISSN: 0002-9297
Year: 2007
Genetic research, Ectodermal dysplasia, Muslims, Lebanese, Lebanese Muslims

User Contributions:

Comment about this article or add new information about this topic:

CAPTCHA


Subjects list: Research, Genetic aspects, Acetylcholine, Acetylcholine receptors
Similar abstracts:
  • Abstracts: Casein kinase 2-dependent serine phosphorylation of MuSK regulates acetylcholine receptor aggregation at the neuromuscular junction
  • Abstracts: Dorsoventral patterning in the Drosophila central nervous system: the vnd homeobox gene specifies ventral column identity
  • Abstracts: The locus control region is required for association of the murine beta-globin locus with engaged transcription factories during erythroid maturation
  • Abstracts: Peroxisomal bifunctional protein deficiency revisited: resolution of its true enzymatic and molecular basis. Mutations in the gene encoding peroxisomal sterol carrier protein X (SCPx) cause leukencephalopathy with dystonia and motor neuropathy
  • Abstracts: Collective bacterial dynamics revealed using a three-dimensional population-scale defocused particle tracking technique
This website is not affiliated with document authors or copyright owners. This page is provided for informational purposes only. Unintentional errors are possible.
Some parts © 2023 Advameg, Inc.