scholarly journals Is there a genomic link and common pathogenesis (postzygotic mutations in beta-actin) for Poland syndrome and Becker nevus syndrome?

2021 ◽  
Vol 0 (0) ◽  
pp. 0-0
Author(s):  
Philip R. Cohen
Keyword(s):  
Poland Syndrome ◽  
Beta Actin ◽  
Common Pathogenesis ◽  
Postzygotic Mutations

scholarly journals Postzygotic Mutations in Beta-Actin Are Associated with Becker’s Nevus and Becker’s Nevus Syndrome

2017 ◽  
Vol 137 (8) ◽  
pp. 1795-1798 ◽  
Author(s):  
Emily D. Cai ◽  
Bryan K. Sun ◽  
Audris Chiang ◽  
Anna Rogers ◽  
Laura Bernet ◽  
...  
Keyword(s):  
Beta Actin ◽  
Becker’S Nevus ◽  
Postzygotic Mutations

06 / Poland Syndrome and anesthesia

2018 ◽  
Author(s):  
Ayca Sultan Sahin
Keyword(s):  
Poland Syndrome

Mangrove Genetics. IV. Postzygotic Mutations Fixed as Periclinal Chimeras

1996 ◽  
Vol 157 (4) ◽  
pp. 398-405 ◽  
Author(s):  
Edward J. Klekowski, ◽  
Robin Lowenfeld ◽  
Elizabeth H. Klekowski
Keyword(s):  
Periclinal Chimeras ◽  
Postzygotic Mutations

Computer-Aided Design: Prototyping and Manufacturing (Pectus Excavatum and Poland Syndrome)

2019 ◽  
pp. 13-33
Author(s):  
Benjamin Moreno ◽  
Pierre Leyx ◽  
Jean-Pierre Chavoin
Keyword(s):  
Computer Aided Design ◽  
Pectus Excavatum ◽  
Poland Syndrome ◽  
Computer Aided ◽  
Aided Design

Prevalence of Hand Malformations in Patients With Moebius Syndrome and Their Management

Hand ◽  
2021 ◽  
pp. 155894472199426
Author(s):  
Jose E. Telich-Tarriba ◽  
David F. Navarro-Barquin ◽  
Karol Verdezoto-Gaibor ◽  
Alexander Cardenas-Mejia
Keyword(s):  
Upper Extremity ◽  
Treatment Strategies ◽  
Abducens Nerve ◽  
Poland Syndrome ◽  
Statistical Association ◽  
Moebius Syndrome ◽  
Cross Sectional ◽  
Reconstructive Procedures ◽  
Nerve Paralysis ◽  
Wide Range

Background: Moebius syndrome is a disorder characterized by facial and abducens nerve paralysis. Patients can present a wide range of upper extremity malformations. Literature focused on orthopedic manifestations of Moebius syndrome shows variability in the prevalence and clinical presentation of upper extremity anomalies. The aim of this work is to evaluate the prevalence of upper extremity malformations in patients with Moebius syndrome, clarify its various clinical presentations, and present treatment strategies for their management. Methods: This is a retrospective, cross-sectional study including patients with Moebius syndrome and upper extremity malformations between 2012 and 2019. Data include demographic characteristics, Moebius syndrome subtype, type of malformation, affected extremity, and surgical procedures underwent. Quantitative data were recorded as mean (standard deviation [SD]), and qualitative data were expressed in terms of totals and percentages. Statistical association between Moebius syndrome subtype and development of upper extremity anomalies was evaluated using binary logistic regression. Results: Twenty-five out of 153 patients (16.3%) presented upper extremity malformations (48% male). Mean age of presentation was 9.08 ± 9.43 years. Sixty-eight percent of the malformations were unilateral. The most common presentations included Poland syndrome and simple syndactyly with 8 cases each (32%), followed by 5 cases of brachysyndactyly (20%), 3 cases of amniotic band syndrome (12%), and 1 case of cleft hand (4%). No statistical association was found between Moebius syndrome subtype and odds ratio for development of upper extremity anomalies. Thirteen patients (52%) underwent reconstructive procedures. Conclusion: Poland syndrome and syndactyly are the most common anomalies in patients with Moebius syndrome. Patients may present with a wide range of hand malformations, each patient should be carefully evaluated in order to determine whether surgical treatment is needed and to optimize rehabilitation protocols.

scholarly journals Characterization of a beta-actin mRNA zipcode-binding protein.

1997 ◽  
Vol 17 (4) ◽  
pp. 2158-2165 ◽  
Author(s):  
A F Ross ◽  
Y Oleynikov ◽  
E H Kislauskis ◽  
K L Taneja ◽  
R H Singer
Keyword(s):  
Nuclear Export ◽  
Rna Binding ◽  
Rna Binding Proteins ◽  
Binding Protein ◽  
Affinity Purification ◽  
Nuclear Export Signal ◽  
Degenerate Primers ◽  
Band Shift ◽  
Beta Actin ◽  
Actin Mrna

Localization of beta-actin mRNA to the leading edge of fibroblasts requires the presence of conserved elements in the 3' untranslated region of the mRNA, including a 54-nucleotide element which has been termed the "zipcode" (E. Kislauskis, X. Zhu, and R. H. Singer, J. Cell Biol. 127:441-451, 1994). In order to identify proteins which bind to the zipcode and possibly play a role in localization, we performed band-shift mobility assays, UV cross-linking, and affinity purification experiments. A protein of 68 kDa was identified which binds to the proximal (to the coding region) half of the zipcode with high specificity (ZBP-1). Microsequencing provided unique peptide sequences of approximately 15 residues each. Degenerate primers corresponding to the codons derived from the peptides were synthesized and used for PCR amplification. Screening of a chicken cDNA library resulted in isolation of several clones providing a DNA sequence encoding a 67.7-kDa protein with regions homologous to several RNA-binding proteins, such as hnRNP E1 and E2, and with consensus mRNA recognition motif with RNP1 and 2 motifs and a putative REV-like nuclear export signal. Antipeptide antibodies were raised in rabbits which bound to ZBP-1 and coimmunoprecipitated proteins of 120 and 25 kDa. The 120-kDa protein was also obtained by affinity purification with the RNA zipcode sequence, along with a 53-kDa protein, but the 25-kDa protein appeared only in immunoprecipitations. Mutation of one of the conserved sequences within the zipcode, an ACACCC element in its proximal half, greatly reduced its protein binding and localization properties. These data suggest that the 68-kDa ZBP-1 we have isolated and cloned is an RNA-binding protein that functions within a complex to localize beta-actin mRNA.

Chest Wall Reconstruction With Methacrylate Prosthesis in Poland Syndrome

2013 ◽  
Vol 49 (10) ◽  
pp. 450-452
Author(s):  
Elisabet Arango Tomás ◽  
Carlos Baamonde Laborda ◽  
Javier Algar Algar ◽  
Angel Salvatierra Velázquez
Keyword(s):  
Chest Wall ◽  
Chest Wall Reconstruction ◽  
Poland Syndrome

scholarly journals Mutational analysis of Ser14 and Asp157 in the nucleotide-binding site of beta-actin

1999 ◽  
Vol 265 (1) ◽  
pp. 210-220 ◽  
Author(s):  
Herwig Schuler ◽  
Elena Korenbaum ◽  
Clarence E. Schutt ◽  
Uno Lindberg ◽  
Roger Karlsson
Keyword(s):  
Binding Site ◽  
Mutational Analysis ◽  
Nucleotide Binding ◽  
Nucleotide Binding Site ◽  
Beta Actin

scholarly journals Amplification of human beta-actin gene by the reverse transcriptase-polymerase chain reaction: implications for assessment of RNA from formalin-fixed, paraffin-embedded material.

1996 ◽  
Vol 44 (10) ◽  
pp. 1205-1207 ◽  
Author(s):  
A Dakhama ◽  
V Macek ◽  
J C Hogg ◽  
R G Hegele
Keyword(s):  
Polymerase Chain Reaction ◽  
Pcr Amplification ◽  
Housekeeping Gene ◽  
Chain Reaction ◽  
Viral Genomes ◽  
Negative Results ◽  
Beta Actin ◽  
Target Nucleic Acid ◽  
Formalin Fixed Paraffin Embedded ◽  
Polymerase Chain

The polymerase chain reaction (PCR) is a powerful method that allows enzymatic amplification of rate target nucleic acid sequences. It has been applied to the amplification of viral genomes from paraffin-embedded pathology specimens. However, interpretation of negative results requires amplification of a housekeeping gene such as beta-actin. In the present study we used specific oligonucleotide primers previously designed to amplify both the genomic DNA and the mRNA transcript from paraffin-embedded tissue. These products have predicted sizes of 250 BP and 154 BP, respectively, but our results showed that PCR amplification only (without reverse transcription) unexpectedly generated the 154-BP product. Further investigation of the nature of this product demonstrated that it originated from the amplification of DNA, not RNA. We conclude that the 154-BP product generated by these primers cannot be exclusively considered as beta-actin RNA product and should not be used to assess successful extraction of RNA, to ascertain its integrity, or to normalize for the total amount of RNA assayed by RT-PCR from paraffin-embedded tissue.

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