Search

Your search keyword '"Gerykova Bujalkova, Maria"' showing total 12 results
Start Over Author "Gerykova Bujalkova, Maria"
12 results on '"Gerykova Bujalkova, Maria"'

3. Large neutral amino acid levels tune perinatal neuronal excitability and survival

Author

Knaus, Lisa S., primary, Basilico, Bernadette, additional, Malzl, Daniel, additional, Gerykova Bujalkova, Maria, additional, Smogavec, Mateja, additional, Schwarz, Lena A., additional, Gorkiewicz, Sarah, additional, Amberg, Nicole, additional, Pauler, Florian M., additional, Knittl-Frank, Christian, additional, Tassinari, Marianna, additional, Maulide, Nuno, additional, Rülicke, Thomas, additional, Menche, Jörg, additional, Hippenmeyer, Simon, additional, and Novarino, Gaia, additional

Published
2023
Full Text
View/download PDF

4. Large neutral amino acid levels tune perinatal neuronal excitability and survival

Author

Knaus, Lisa S., primary, Basilico, Bernadette, additional, Malzl, Daniel, additional, Gerykova Bujalkova, Maria, additional, Smogavec, Mateja, additional, Schwarz, Lena A., additional, Gorkiewicz, Sarah, additional, Amberg, Nicole, additional, Pauler, Florian, additional, Rülicke, Thomas, additional, Menche, Jörg, additional, Hippenmeyer, Simon, additional, and Novarino, Gaia, additional

Published
2022
Full Text
View/download PDF

7. Utilization of Benchtop Next Generation Sequencing Platforms Ion Torrent PGM and MiSeq in Noninvasive Prenatal Testing for Chromosome 21 Trisomy and Testing of Impact of In Silico and Physical Size Selection on Its Analytical Performance

Author

Minarik, Gabriel, primary, Repiska, Gabriela, additional, Hyblova, Michaela, additional, Nagyova, Emilia, additional, Soltys, Katarina, additional, Budis, Jaroslav, additional, Duris, Frantisek, additional, Sysak, Rastislav, additional, Gerykova Bujalkova, Maria, additional, Vlkova-Izrael, Barbora, additional, Biro, Orsolya, additional, Nagy, Balint, additional, and Szemes, Tomas, additional

Published
2015
Full Text
View/download PDF

8. Distal Arthrogryposis with Impaired Proprioception and Touch: Description of an Early Phenotype in a Boy with Compound Heterozygosity of PIEZO2Mutations and Review of the Literature

Author

Behunova, Jana, Gerykova Bujalkova, Maria, Gras, Gabriel, Taylor, Thomas, Ihm, Ulrike, Kircher, Susanne, Rehder, Helga, and Laccone, Franco

Abstract

The recessive PIEZO2-associated disease, distal arthrogryposis with impaired proprioception and touch (DAIPT), is characterized by hypotonia, perinatal respiratory distress, significantly delayed motor milestones, and progressive symptoms of distal arthrogryposis and scoliosis. Here, we describe the youngest patient with DAIPT to date, who, at the age of 3.5 years, did not show a single clinical sign of distal arthrogryposis or contractures, but had a history of bilateral clubfoot operations. On the contrary, he presented with some features, not described thus far, such as syringohydromyelia, a small cyst of the spinal cord, moderate microcephaly with premature closure of anterior fontanelle, and spontaneous unilateral patella dislocation at the age of 32 months. Using whole exome sequencing, we identified 2 new different loss-of-function mutations in the PIEZO2 gene in our patient. We also review the phenotypes of all 16 previously published patients with DAIPT, summarize the distinctive clinical features of this rare genetic disorder, and recommend that DAIPT be included in the differential diagnosis of floppy infant. PIEZO2 is a unique ion channel that converts mechanical impulses into cellular signals and is involved in various mechanotransduction pathways. In addition to DAIPT, mutations in PIEZO2 have been described to cause 3 more distinct phenotypes of distal arthrogryposis, which are dominant and associated with gain-of-function mutations. On the contrary, recessive DAIPT is associated with loss-of-function PIEZO2mutations.

Published
2019
Full Text
View/download PDF

9. Identification of a novel mutations c.80 + 3del4 and *c.6589delA in Slovak HBOC families

Author

Konecny, Michal, Vizvaryova, Miriam, Zavodna, Katarina, Behulova, Regina, Gerykova Bujalkova, Maria, Krivulcik, Tomas, Cisarik, Frantisek, Kausitz, Juraj, Weismanova, Eva, Department of Clinical Genetics, St. Elizabeth Cancer Institute, Laboratory of Cancer Genetics, Cancer Research Institute of Slovak Academy of Sciences, Institute of Medical Biology and Genetics, Faculty of Medicine, Comenius University in Bratislava, and Hospital and Clinic

Subjects
Novel mutation, Slovak population, Hereditary breast ovarian cancer (HBOC), Splicing mutation
Abstract

International audience; Mutations in the and genes account for the majority of hereditary breast ovarian cancer (HBOC) cases. However, after and screening still the most HBOC cases remain negative for any mutational event. Accordingly, in these cases raises the relevance to analyze the unusual variants of uncertain clinical significance. Complex RNA/cDNA analysis may constitute the solution and help to interpret the HBOC syndrome in the family. In our study we analyzed the novel, to our knowledge, not yet published mutations identified in Slovak HBOC families, c.80 + 3del4 (IVS2 + 3delAGTC) in gene and mutation c.6589delA (6817delA) in gene. To determine the effect of the mutation, we applied different approaches: segregation analysis of mutation with disease, presence in the set of unaffected controls and finally RNA/cDNA analysis. Novel mutation was determined performing direct sequencing analysis. In conclusion, considering the results from all used techniques we approved the mentioned mutations as seriously pathogenic and disease causing with clear effect on the onset of HBOC syndrome.

Published
2008

12. Distal Arthrogryposis with Impaired Proprioception and Touch: Description of an Early Phenotype in a Boy with Compound Heterozygosity of PIEZO2 Mutations and Review of the Literature.

Author

Behunova J, Gerykova Bujalkova M, Gras G, Taylor T, Ihm U, Kircher S, Rehder H, and Laccone F

Abstract

The recessive PIEZO2 -associated disease, distal arthrogryposis with impaired proprioception and touch (DAIPT), is characterized by hypotonia, perinatal respiratory distress, significantly delayed motor milestones, and progressive symptoms of distal arthrogryposis and scoliosis. Here, we describe the youngest patient with DAIPT to date, who, at the age of 3.5 years, did not show a single clinical sign of distal arthrogryposis or contractures, but had a history of bilateral clubfoot operations. On the contrary, he presented with some features, not described thus far, such as syringohydromyelia, a small cyst of the spinal cord, moderate microcephaly with premature closure of anterior fontanelle, and spontaneous unilateral patella dislocation at the age of 32 months. Using whole exome sequencing, we identified 2 new different loss-of-function mutations in the PIEZO2 gene in our patient. We also review the phenotypes of all 16 previously published patients with DAIPT, summarize the distinctive clinical features of this rare genetic disorder, and recommend that DAIPT be included in the differential diagnosis of floppy infant. PIEZO2 is a unique ion channel that converts mechanical impulses into cellular signals and is involved in various mechanotransduction pathways. In addition to DAIPT, mutations in PIEZO2 have been described to cause 3 more distinct phenotypes of distal arthrogryposis, which are dominant and associated with gain-of-function mutations. On the contrary, recessive DAIPT is associated with loss-of-function PIEZO2 mutations.

Published
2019
Full Text
View/download PDF

Catalog

Books, media, physical & digital resources
See catalog results