Mutation of the gene encoding the ROR2 tyrosine kinase causes autosomal recessive Robinow syndrome

10.1038/78113 ◽  
2000 ◽  
Vol 25 (4) ◽  
pp. 423-426 ◽  
Author(s):  
Hans van Bokhoven ◽  
Jacopo Celli ◽  
Hülya Kayserili ◽  
Ellen van Beusekom ◽  
Sevim Balci ◽  
...  
Keyword(s):  
Tyrosine Kinase ◽  
Autosomal Recessive ◽  
Gene Encoding ◽  
Robinow Syndrome

Ror2knockout mouse as a model for the developmental pathology of autosomal recessive Robinow syndrome

2004 ◽  
Vol 229 (2) ◽  
pp. 400-410 ◽  
Author(s):  
Georg C. Schwabe ◽  
Britta Trepczik ◽  
Kathrin Süring ◽  
Norbert Brieske ◽  
Abigail S. Tucker ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Robinow Syndrome ◽  
Developmental Pathology

scholarly journals High prevalence of theW24X mutation in the gene encoding connexin-26 (GJB2) in Spanish Romani (gypsies) with autosomal recessive non-syndromic hearing loss

2005 ◽  
Vol 137A (3) ◽  
pp. 255-258 ◽  
Author(s):  
Araceli Álvarez ◽  
Ignacio del Castillo ◽  
Manuela Villamar ◽  
Luis A. Aguirre ◽  
Anna González-Neira ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Autosomal Recessive ◽  
Connexin 26 ◽  
Gene Encoding ◽  
High Prevalence ◽  
Syndromic Hearing Loss

Autosomal recessive Robinow syndrome with novel ROR2 variants: distinct cases exhibiting the clinical variability

2020 ◽  
Vol 29 (3) ◽  
pp. 137-140
Author(s):  
Emre Kirat ◽  
Hatice Mutlu Albayrak ◽  
Bahtiyar Sahinoglu ◽  
Abdullah Ihsan Gurler ◽  
Kadri Karaer
Keyword(s):  
Autosomal Recessive ◽  
Clinical Variability ◽  
Robinow Syndrome

scholarly journals Functional characterization of the promoter of pp63, a gene encoding a natural inhibitor of the insulin receptor tyrosine kinase

1992 ◽  
Vol 20 (8) ◽  
pp. 1983-1990 ◽  
Author(s):  
Laurence Falquerho ◽  
Laurent Paquereau ◽  
Marie José Vilarem ◽  
Simon Galas ◽  
Gilles Patey ◽  
...  
Keyword(s):  
Tyrosine Kinase ◽  
Insulin Receptor ◽  
Receptor Tyrosine Kinase ◽  
Functional Characterization ◽  
Gene Encoding ◽  
Insulin Receptor Tyrosine Kinase ◽  
Natural Inhibitor

Nck Beta Adapter Protein Coordinates Bcr-Abl/Sam68 Intermolecular Interaction.

Blood ◽  
2008 ◽  
Vol 112 (11) ◽  
pp. 1093-1093
Author(s):  
Enrico Bracco ◽  
Erika Deklic ◽  
Valentina Rosso ◽  
Stefano Mussino ◽  
Francesca Arruga ◽  
...  
Keyword(s):  
Tyrosine Kinase ◽  
Intermolecular Interaction ◽  
Rna Binding ◽  
Chromosome 9 ◽  
Myelogenous Leukemia ◽  
Leukemic Cells ◽  
Regulatory Subunit ◽  
Adapter Protein ◽  
Gene Encoding ◽  
Quaternary Complex

Abstract Background: Philadelphia positive (Ph+) disorders, such as Chronic Myelogenous Leukemia (CML) are characterized by the presence of abnormal chromosome rising from translocation between chromosome 9 and 22 thus giving birth to a chimeric oncogenic protein named Bcr-Abl. This oncogenic kinase displays constitutive tyrosine kinase activity which leads to tyrosine residues autophosphorylation, in turn recruiting SH2 and/or PTB containing proteins. In the last decade Bcr-Abl targeted therapy has been successfully employed and, among currently available drugs inhibiting Bcr-Abl activity, Imatinb mesylate represents the most efficient. Despite the huge amount of data reporting the effects of Imatinib on signal transduction pathways (for example ERK1/2 and PI3K activation, CrkL phosphorylation etc…) in Ph+ leukemic cells rather few experimental evidences are available on the effects of Imatinib on adapter molecules. Therefore we are currently attempting to investigate such field. Aims and Methods: The significance of interactions occurring between Bcr-Abl and adapter molecules is still matter of debate. Most of the interactions so far described (CrkL, Grb2, PI3K p85 regulatory subunit etc…) appear to play a role in coordinating and integrating a plethora of signals which in turn lead to proliferation, cell survival and/ or cytoskeletal organization. In the last years few, but very interestingly, data supporting the hypothesis that adapter molecules might also act as c-Abl catalytic regulators have been presented. By means of an interactomic approach, based on proteomic strategy using GST-Pull Down assay with an array of SH2 containing proteins, we attempted to gain insight into the role played by adapter molecules and Bcr-Abl interactions. Results and Conclusions: The data herein presented aims to demonstrate the presence of quaternary complex involving the SH2-SH3 containing adapter protein Nck-beta, the oncogenic tyrosine kinase Bcr-Abl and the RNA binding protein Sam68. The experimental evidences we have collected support the hypothesis of an Imatinib-dependent interaction occurring between Nck-beta and Bcr-Abl. Furthermore, Pull Down experiments indicate an intermolecular interaction between Nck-beta and Sam68, supporting the idea of a novel complex Bcr-Abl/Nck-beta/Sam68. Interestingly, preliminary data carried-out using RNA Pull Down assay suggest that the quaternary complex Nck-beta/Sam68/ Bcr-Abl might modulates splicing process of a gene encoding for a protein capable of regulating apoptosis events, such as Bcl-X. Taken together these results represent the first experimental evidences showing an interaction between the oncogene Bcr-Abl and Sam- 68 leading to speculate a novel putative role played by Bcr-Abl in the intriguing and complex mRNA splicing scenario.

Mutations in the ELA2 gene encoding neutrophil elastase are present in most patients with sporadic severe congenital neutropenia but only in some patients with the familial form of the disease

Blood ◽  
2001 ◽  
Vol 98 (9) ◽  
pp. 2645-2650 ◽  
Author(s):  
Phil J. Ancliff ◽  
Rosemary E. Gale ◽  
Ri Liesner ◽  
Ian M. Hann ◽  
David C. Linch
Keyword(s):  
Neutrophil Elastase ◽  
Autosomal Recessive ◽  
Autosomal Dominant ◽  
Autosomal Recessive Disorder ◽  
Severe Neutropenia ◽  
Base Substitution ◽  
Severe Congenital Neutropenia ◽  
Congenital Neutropenia ◽  
Gene Encoding ◽  
Familial Form

Abstract Severe congenital neutropenia (SCN) was originally described as an autosomal recessive disorder. Subsequently, autosomal dominant and sporadic forms of the disease have been recognized. All forms are manifest by persistent severe neutropenia and recurrent bacterial infection. In contrast, cyclical hematopoiesis is characterized by periodic neutropenia inter-spaced with (near) normal neutrophil counts. Recently, linkage analysis on 13 affected pedigrees identified chromosome 19p13.3 as the likely position for mutations in cyclical hematopoiesis. Heterozygous mutations in the ELA2 gene encoding neutrophil elastase were detected in all families studied. Further work also demonstrated mutations in ELA2 in sporadic and autosomal dominant SCN. However, all mutations described to date are heterozygous and thus appear to act in a dominant fashion, which is inconsistent with an autosomal recessive disease. Therefore, the current study investigated whether mutations in ELA2could account for the disease phenotype in classical autosomal recessive SCN and in the sporadic and autosomal dominant types. All 5 exons of ELA2 and their flanking introns were studied in 18 patients (3 autosomal recessive, 5 autosomal dominant [from 3 kindreds], and 10 sporadic) using direct automated sequencing. No mutations were found in the autosomal recessive families. A point mutation was identified in 1 of 3 autosomal dominant families, and a base substitution was identified in 8 of 10 patients with the sporadic form, though 1 was subsequently shown to be a low-frequency polymorphism. These results suggest that mutations in ELA2are not responsible for classical autosomal recessive Kostmann syndrome but provide further evidence for the role of ELA2 in SCN.

Homozygous tandem duplication within the gene encoding the β-subunit of rod phosphodiesterase as a cause for autosomal recessive retinitis pigmentosa

1995 ◽  
Vol 5 (3) ◽  
pp. 228-234 ◽  
Author(s):  
Mònica Bayés ◽  
Mara Giordano ◽  
Susana Balcells ◽  
Daniel Grinberg ◽  
Llusïsa Vilageliu ◽  
...  
Keyword(s):  
Retinitis Pigmentosa ◽  
Autosomal Recessive ◽  
Tandem Duplication ◽  
Β Subunit ◽  
Gene Encoding

scholarly journals Identification of the SPG15 Gene, Encoding Spastizin, as a Frequent Cause of Complicated Autosomal-Recessive Spastic Paraplegia, Including Kjellin Syndrome

2008 ◽  
Vol 82 (4) ◽  
pp. 992-1002 ◽  
Author(s):  
Sylvain Hanein ◽  
Elodie Martin ◽  
Amir Boukhris ◽  
Paula Byrne ◽  
Cyril Goizet ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Spastic Paraplegia ◽  
Gene Encoding
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