Results 1 to 10 of about 116 (80)
IKAP/Elp1 Is Required In Vivo for Neurogenesis and Neuronal Survival, but Not for Neural Crest Migration [PDF]
PLoS ONE, 2012 Familial Dysautonomia (FD; Hereditary Sensory Autonomic Neuropathy; HSAN III) manifests from a failure in development of the peripheral sensory and autonomic nervous systems. The disease results from a point mutation in the IKBKAP gene, which encodes the
Frances Lefcort +2 more
exaly +5 more sources
Involvement of IKAP in Peripheral Target Innervation and in Specific JNK and NGF Signaling in Developing PNS Neurons [PDF]
PLoS ONE, 2014 A splicing mutation in the ikbkap gene causes Familial Dysautonomia (FD), affecting the IKAP protein expression levels and proper development and function of the peripheral nervous system (PNS).
Miguel Weil, Hayit Greenspan
exaly +5 more sources
Effects of IKAP/hELP1 Deficiency on Gene Expression in Differentiating Neuroblastoma Cells: Implications for Familial Dysautonomia [PDF]
PLoS ONE, 2011 Familial dysautonomia (FD) is a developmental neuropathy of the sensory and autonomous nervous systems. The IKBKAP gene, encoding the IKAP/hELP1 subunit of the RNA polymerase II Elongator complex is mutated in FD patients, leading to a tissue-specific ...
Miguel Weil, Metsada Pasmanik-Chor
exaly +5 more sources
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.
Gil Ast
exaly +5 more sources
PLoS ONE, 2014 The splice site mutation in the IKBKAP gene coding for IKAP protein leads to the tissue-specific skipping of exon 20, with concomitant reduction in IKAP protein production.
Miguel Weil +2 more
exaly +5 more sources
SAGE Open NursingIntroduction Permanent ostomy surgery has been shown to improve patient survival rates; however, it also results in changes to body image, bowel habits, and lifestyle.
Wang Nan MSN +5 more
exaly +5 more sources
IKAP/Elp1 involvement in cytoskeleton regulation and implication for familial dysautonomia [PDF]
Human Molecular Genetics, 2011 Deficiency in the IKAP/Elp1 protein leads to the recessive sensory autosomal congenital neuropathy which is called familial dysautonomia (FD). This protein was originally identified as a role player in transcriptional elongation being a subunit of the RNAPII transcriptional Elongator multi-protein complex.
Miguel Weil, Gil Ast, Aharon Razin
exaly +3 more sources
Loss-of-function of IKAP/ELP1 [PDF]
Cell Adhesion and Migration, 2008 Familial dysautonomia (FD) is a hereditary neuronal disease characterized by poor development and progressive degeneration of the sensory and autonomic nervous system. Majority of FD (99.5%) results from a single nucleotide point mutation in the IKBKAP gene encoding IKAP, also known as elongation protein 1 (ELP1).
Tuula Kallunki
exaly +4 more sources
中西医结合护理, 2023 Objective To explore the effect IKAP health education model in nursing care of hematopoietic stem cell donors. Methods A total of 96 hematopoietic stem cell donors hospitalized in the hospital from June 2020 to September 2021 were selected and divided ...
ZONG Qiaosu (宗乔素)
doaj +2 more sources
The role of the IKAP gene polymorphisms in atopic diseases in the middle European population [PDF]
Journal of Human Genetics, 2003 Over ten genome-wide screens and many candidate genes studies were performed worldwide to elucidate genetic factors involved in the pathogenesis of bronchial asthma and other atopic diseases. Results from these studies were often discordant, which might have reflected complexity and heterogeneity of these multifactorial diseases.
Lydie Izakovičová Holla +2 more
exaly +3 more sources