Nup 88 a Novel Player in Foetal Akinesia Deformation Sequence (FADS)
نویسندگان
چکیده
منابع مشابه
Germline mutations in RYR1 are associated with foetal akinesia deformation sequence/lethal multiple pterygium syndrome
INTRODUCTION Foetal akinesia deformation sequence syndrome (FADS) is a genetically heterogeneous disorder characterised by the combination of foetal akinesia and developmental defects which may include pterygia (joint webbing). Traditionally multiple pterygium syndrome (MPS) has been divided into two forms: prenatally lethal (LMPS) and non-lethal Escobar type (EVMPS) types. Interestingly, FADS,...
متن کاملThree-dimensional ultrasonographic appearance of the fetal akinesia deformation sequence.
OBJECTIVE To present the appearance of the fetal akinesia deformation sequence by three-dimensional ultrasonography after four-dimensional ultrasonographic scanning. METHODS Three-dimensional surface-rendering images were used to show the fixed postural abnormalities of the fetal extremities and body. Four-dimensional ultrasonography was used to show that the postural abnormalities were fixed...
متن کاملFetal akinesia deformation sequence: a case report and review of literature
Fetal Akinesia Deformation Sequence (FADS) is a condition characterised by decreased fetal movement (fetal akinesia), multiple joint contractures (arthrogryposis), facial anomalies, intrauterine growth restriction, pulmonary hypoplasia and other developmental abnormalities. These disorders are clinically and genetically heterogenous and its etiology remains unclear. This syndrome is rare and th...
متن کاملUrocortin: A Novel Player in Cardiac Control.
Urocortin is a potent regulator of cardiac function, with actions that are prolonged in experimental animals. These changes are mediated via binding to corticotropin-releasing factor receptors found in peripheral tissues. The effects of urocortin on behavior, appetite, inflammation, and the cardiovascular system suggest that this peptide may be an endogenous factor mediating actions previously ...
متن کاملHLA-E: A Novel Player for Histocompatibility
The classical class I human leukocyte antigens (HLA-A, -B, and -C) present allele-specific self- or pathogenic peptides originated by intracellular processing to CD8(+) immune effector cells. Even a single mismatch in the heavy chain (hc) of an HLA class I molecule can impact on the peptide binding profile. Since HLA class I molecules are highly polymorphic and most of their polymorphisms affec...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Mechanisms of Development
سال: 2017
ISSN: 0925-4773
DOI: 10.1016/j.mod.2017.04.057