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1. The phenotypic spectrum of PTCD3 deficiency

Author

Lace, Baiba, primary, Faqeih, Eissa, additional, Kaya, Namik, additional, Krumina, Zita, additional, Mayr, Johannes A., additional, Micule, Ieva, additional, Wright, Nathan Thompson, additional, Achleitner, Melanie T., additional, AlQudairy, Hanan, additional, Pajusalu, Sander, additional, Stavusis, Janis, additional, Zayakin, Pawel, additional, and Inashkina, Inna, additional

Published
2024
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7. CAPN3 c.1746‐20C>G variant is hypomorphic for LGMD R1 calpain 3‐related

Author

Mroczek, Magdalena, primary, Inashkina, Inna, additional, Stavusis, Janis, additional, Zayakin, Pawel, additional, Khrunin, Andrey, additional, Micule, Ieva, additional, Kenina, Victorija, additional, Zdanovica, Anna, additional, Zídková, Jana, additional, Fajkusová, Lenka, additional, Limborska, Svetlana, additional, van der Kooi, Anneke J., additional, Brusse, Esther, additional, Leonardis, Lea, additional, Maver, Ales, additional, Pajusalu, Sander, additional, Õunap, Katrin, additional, Puusepp, Sanna, additional, Dobosz, Paula, additional, Sypniewski, Mateusz, additional, Burnyte, Birute, additional, and Lace, Baiba, additional

Published
2022
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9. Case Report: Two Families With HPDL Related Neurodegeneration

Author

Micule, Ieva, primary, Lace, Baiba, additional, Wright, Nathan T., additional, Chrestian, Nicolas, additional, Strautmanis, Jurgis, additional, Diriks, Mikus, additional, Stavusis, Janis, additional, Kidere, Dita, additional, Kleina, Elfa, additional, Zdanovica, Anna, additional, Laflamme, Nataly, additional, Rioux, Nadie, additional, Setty, Samarth Thonta, additional, Pajusalu, Sander, additional, Droit, Arnaud, additional, Lek, Monkol, additional, Rivest, Serge, additional, and Inashkina, Inna, additional

Published
2022
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10. Sarcomeric deficits underlie MYBPC1-associated myopathy with myogenic tremor

Author

Geist Hauserman, Janelle, primary, Stavusis, Janis, additional, Joca, Humberto C., additional, Robinett, Joel C., additional, Hanft, Laurin, additional, Vandermeulen, Jack, additional, Zhao, Runchen, additional, Stains, Joseph P., additional, Konstantopoulos, Konstantinos, additional, McDonald, Kerry S., additional, Ward, Christopher, additional, and Kontrogianni-Konstantopoulos, Aikaterini, additional

Published
2021
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12. Collagen VI-related limb-girdle syndrome caused by frequent mutation in COL6A3 gene with conflicting reports of pathogenicity

Author

Stavusis, Janis, primary, Micule, Ieva, additional, Wright, Nathan T., additional, Straub, Volker, additional, Topf, Ana, additional, Panadés-de Oliveira, Luísa, additional, Domínguez-González, Cristina, additional, Inashkina, Inna, additional, Kidere, Dita, additional, Chrestian, Nicolas, additional, and Lace, Baiba, additional

Published
2020
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13. Mutations in PIGB Cause an Inherited GPI Biosynthesis Defect with an Axonal Neuropathy and Metabolic Abnormality in Severe Cases

Author

Murakami, Yoshiko, Baratang, Nissan, Raju, Praveen K., Knaus, Alexej, Ellard, Sian, Jones, Gabriela, Lace, Baiba, Rousseau, Justine, Ajeawung, Norbert Fonya, Kamei, Atsushi, Minase, Gaku, Akasaka, Manami, Araya, Nami, Koshimizu, Eriko, van den Ende, Jenneke, Erger, Florian, Altmueller, Janine, Krumina, Zita, Strautmanis, Jurgis, Inashkina, Inna, Stavusis, Janis, El-Gharbawy, Areeg, Sebastian, Jessica, Puri, Ratna Dua, Kulshrestha, Samarth, Verma, Ishwar C., Maier, Esther M., Haack, Tobias B., Israni, Anil, Baptista, Julia, Gunning, Adam, Rosenfeld, Jill A., Liu, Pengfei, Joosten, Marieke, Rocha, Maria Eugenia, Hashem, Mais O., Aldhalaan, Hesham M., Alkuraya, Fowzan S., Miyatake, Satoko, Matsumoto, Naomichi, Krawitz, Peter M., Rossignol, Elsa, Kinoshita, Taroh, Campeau, Philippe M., Murakami, Yoshiko, Baratang, Nissan, Raju, Praveen K., Knaus, Alexej, Ellard, Sian, Jones, Gabriela, Lace, Baiba, Rousseau, Justine, Ajeawung, Norbert Fonya, Kamei, Atsushi, Minase, Gaku, Akasaka, Manami, Araya, Nami, Koshimizu, Eriko, van den Ende, Jenneke, Erger, Florian, Altmueller, Janine, Krumina, Zita, Strautmanis, Jurgis, Inashkina, Inna, Stavusis, Janis, El-Gharbawy, Areeg, Sebastian, Jessica, Puri, Ratna Dua, Kulshrestha, Samarth, Verma, Ishwar C., Maier, Esther M., Haack, Tobias B., Israni, Anil, Baptista, Julia, Gunning, Adam, Rosenfeld, Jill A., Liu, Pengfei, Joosten, Marieke, Rocha, Maria Eugenia, Hashem, Mais O., Aldhalaan, Hesham M., Alkuraya, Fowzan S., Miyatake, Satoko, Matsumoto, Naomichi, Krawitz, Peter M., Rossignol, Elsa, Kinoshita, Taroh, and Campeau, Philippe M.

Abstract

Proteins anchored to the cell surface via glycosylphosphatidylinositol (GPI) play various key roles in the human body, particularly in development and neurogenesis. As such, many developmental disorders are caused by mutations in genes involved in the GPI biosynthesis and remodeling pathway. We describe ten unrelated families with bi-allelic mutations in PIGB, a gene that encodes phosphatidy-linositol glycan class B, which transfers the third mannose to the GPI. Ten different PIGB variants were found in these individuals. Flow cytometric analysis of blood cells and fibroblasts from the affected individuals showed decreased cell surface presence of GPI-anchored proteins. Most of the affected individuals have global developmental and/or intellectual delay, all had seizures, two had polymicrogyria, and four had a peripheral neuropathy. Eight children passed away before four years old. Two of them had a clinical diagnosis of DOORS syndrome (deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures), a condition that includes sensorineural deafness, shortened terminal phalanges with small finger and toenails, intellectual disability, and seizures; this condition overlaps with the severe phenotypes associated with inherited GPI deficiency. Most individuals tested showed elevated alkaline phosphatase, which is a characteristic of the inherited GPI deficiency but not DOORS syndrome. It is notable that two severely affected individuals showed 2-oxoglutaric aciduria, which can be seen in DOORS syndrome, suggesting that severe cases of inherited GPI deficiency and DOORS syndrome might share some molecular pathway disruptions.

Published
2019

15. Mutations in PIGB Cause an Inherited GPI Biosynthesis Defect with an Axonal Neuropathy and Metabolic Abnormality in Severe Cases

Author

Murakami, Yoshiko, primary, Nguyen, Thi Tuyet Mai, additional, Baratang, Nissan, additional, Raju, Praveen K., additional, Knaus, Alexej, additional, Ellard, Sian, additional, Jones, Gabriela, additional, Lace, Baiba, additional, Rousseau, Justine, additional, Ajeawung, Norbert Fonya, additional, Kamei, Atsushi, additional, Minase, Gaku, additional, Akasaka, Manami, additional, Araya, Nami, additional, Koshimizu, Eriko, additional, van den Ende, Jenneke, additional, Erger, Florian, additional, Altmüller, Janine, additional, Krumina, Zita, additional, Strautmanis, Jurgis, additional, Inashkina, Inna, additional, Stavusis, Janis, additional, El-Gharbawy, Areeg, additional, Sebastian, Jessica, additional, Puri, Ratna Dua, additional, Kulshrestha, Samarth, additional, Verma, Ishwar C., additional, Maier, Esther M., additional, Haack, Tobias B., additional, Israni, Anil, additional, Baptista, Julia, additional, Gunning, Adam, additional, Rosenfeld, Jill A., additional, Liu, Pengfei, additional, Joosten, Marieke, additional, Rocha, María Eugenia, additional, Hashem, Mais O., additional, Aldhalaan, Hesham M., additional, Alkuraya, Fowzan S., additional, Miyatake, Satoko, additional, Matsumoto, Naomichi, additional, Krawitz, Peter M., additional, Rossignol, Elsa, additional, Kinoshita, Taroh, additional, and Campeau, Philippe M., additional

Published
2019
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16. Novel mutations in MYBPC1 are associated with myogenic tremor and mild myopathy

Author

Stavusis, Janis, primary, Lace, Baiba, additional, Schäfer, Jochen, additional, Geist, Janelle, additional, Inashkina, Inna, additional, Kidere, Dita, additional, Pajusalu, Sander, additional, Wright, Nathan T., additional, Saak, Annika, additional, Weinhold, Manja, additional, Haubenberger, Dietrich, additional, Jackson, Sandra, additional, Kontrogianni‐Konstantopoulos, Aikaterini, additional, and Bönnemann, Carsten G., additional

Published
2019
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19. Complete mtDNA sequencing reveals mutations m.9185T>C and m.13513G>A in three patients with Leigh syndrome

Author

Pelnena, Dita, primary, Burnyte, Birute, additional, Jankevics, Eriks, additional, Lace, Baiba, additional, Dagyte, Evelina, additional, Grigalioniene, Kristina, additional, Utkus, Algirdas, additional, Krumina, Zita, additional, Rozentale, Jolanta, additional, Adomaitiene, Irina, additional, Stavusis, Janis, additional, Pliss, Liana, additional, and Inashkina, Inna, additional

Published
2017
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20. Additional file 1: of Robust genotyping tool for autosomal recessive type of limb-girdle muscular dystrophies

Author

Inashkina, Inna, Eriks Jankevics, Stavusis, Janis, Vasiljeva, Inta, Viksne, Kristine, Micule, Ieva, Strautmanis, Jurgis, Naudina, Maruta, Cimbalistiene, Loreta, Kucinskas, Vaidutis, Astrida Krumina, Utkus, Algirdas, Birute Burnyte, Ausra Matuleviciene, and Lace, Baiba

Abstract

Quality parameters and description of all mutations analyzed with Illumina VeraCode GoldenGate assay. (DOCX 69 kb)

Published
2016
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21. Sequencing the GRHL3 Coding Region Reveals Rare Truncating Mutations and a Common Susceptibility Variant for Nonsyndromic Cleft Palate

Author

Mangold, Elisabeth, Boehmer, Anne C., Ishorst, Nina, Hoebel, Ann-Kathrin, Gueltepe, Pinar, Schuenke, Hannah, Klamt, Johanna, Hofmann, Andrea, Goelz, Lina, Raff, Ruth, Tessmann, Peter, Nowak, Stefanie, Reutter, Heiko, Hemprich, Alexander, Kreusch, Thomas, Kramer, Franz-Josef, Braumann, Bert, Reich, Rudolf, Schmidt, Guel, Jaeger, Andreas, Reiter, Rudolf, Brosch, Sibylle, Stavusis, Janis, Ishida, Miho, Seselgyte, Rimante, Moore, Gudrun E., Noethen, Markus M., Borck, Guntram, Aldhorae, Khalid A., Lace, Baiba, Stanier, Philip, Knapp, Michael, Ludwig, Kerstin U., Mangold, Elisabeth, Boehmer, Anne C., Ishorst, Nina, Hoebel, Ann-Kathrin, Gueltepe, Pinar, Schuenke, Hannah, Klamt, Johanna, Hofmann, Andrea, Goelz, Lina, Raff, Ruth, Tessmann, Peter, Nowak, Stefanie, Reutter, Heiko, Hemprich, Alexander, Kreusch, Thomas, Kramer, Franz-Josef, Braumann, Bert, Reich, Rudolf, Schmidt, Guel, Jaeger, Andreas, Reiter, Rudolf, Brosch, Sibylle, Stavusis, Janis, Ishida, Miho, Seselgyte, Rimante, Moore, Gudrun E., Noethen, Markus M., Borck, Guntram, Aldhorae, Khalid A., Lace, Baiba, Stanier, Philip, Knapp, Michael, and Ludwig, Kerstin U.

Abstract

Nonsyndromic cleft lip with/without cleft palate (nsCL/P) and nonsyndromic cleft palate only (nsCPO) are the most frequent subphenotypes of orofacial clefts. A common syndromic form of orofacial clefting is Van der Woude syndrome (VWS) where individuals have CL/P or CPO, often but not always associated with lower lip pits. Recently, similar to 5% of VWS-affected individuals were identified with mutations in the grainy head-like 3 gene (GRHL3). To investigate GRHL3 in nonsyndromic clefting, we sequenced its coding region in 576 Europeans with nsCL/P and 96 with nsCPO. Most strikingly, nsCPO-affected individuals had a higher minor allele frequency for rs41268753 (0.099) than control subjects (0.049; p = 1.24 x 10(-2)). This association was replicated in nsCPO/control cohorts from Latvia, Yemen, and the UK (p(combined) = 2.63 x 10(-5); ORallelic = 2.46 [95% CI 1.6-3.7]) and reached genome-wide significance in combination with imputed data from a GWAS in nsCPO triads (p = 2.73 x 10(-9)). Notably, rs41268753 is not associated with nsCL/P (p = 0.45). rs41268753 encodes the highly conserved p.Thr454Met (c.1361C>T) (GERP = 5.3), which prediction programs denote as deleterious, has a CADD score of 29.6, and increases protein binding capacity in silico. Sequencing also revealed four novel truncating GRHL3 mutations including two that were de novo in four families, where all nine individuals harboring mutations had nsCPO. This is important for genetic counseling: given that VWS is rare compared to nsCPO, our data suggest that dominant GRHL3 mutations are more likely to cause nonsyndromic than syndromic CPO. Thus, with rare dominant mutations and a common risk variant in the coding region, we have identified an important contribution for GRHL3 in nsCPO.

Published
2016

22. Robust genotyping tool for autosomal recessive type of limb-girdle muscular dystrophies

Author

Inashkina, Inna, primary, Jankevics, Eriks, additional, Stavusis, Janis, additional, Vasiljeva, Inta, additional, Viksne, Kristine, additional, Micule, Ieva, additional, Strautmanis, Jurgis, additional, Naudina, Maruta S., additional, Cimbalistiene, Loreta, additional, Kucinskas, Vaidutis, additional, Krumina, Astrida, additional, Utkus, Algirdas, additional, Burnyte, Birute, additional, Matuleviciene, Ausra, additional, and Lace, Baiba, additional

Published
2016
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23. Sequencing the GRHL3 Coding Region Reveals Rare Truncating Mutations and a Common Susceptibility Variant for Nonsyndromic Cleft Palate

Author

Mangold, Elisabeth, primary, Böhmer, Anne C., additional, Ishorst, Nina, additional, Hoebel, Ann-Kathrin, additional, Gültepe, Pinar, additional, Schuenke, Hannah, additional, Klamt, Johanna, additional, Hofmann, Andrea, additional, Gölz, Lina, additional, Raff, Ruth, additional, Tessmann, Peter, additional, Nowak, Stefanie, additional, Reutter, Heiko, additional, Hemprich, Alexander, additional, Kreusch, Thomas, additional, Kramer, Franz-Josef, additional, Braumann, Bert, additional, Reich, Rudolf, additional, Schmidt, Gül, additional, Jäger, Andreas, additional, Reiter, Rudolf, additional, Brosch, Sibylle, additional, Stavusis, Janis, additional, Ishida, Miho, additional, Seselgyte, Rimante, additional, Moore, Gudrun E., additional, Nöthen, Markus M., additional, Borck, Guntram, additional, Aldhorae, Khalid A., additional, Lace, Baiba, additional, Stanier, Philip, additional, Knapp, Michael, additional, and Ludwig, Kerstin U., additional

Published
2016
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24. Dupuytren's Contracture Cosegregation with Limb-Girdle Muscle Dystrophy

Author

Lace, Baiba, Inashkina, Inna, Micule, Ieva, Vasiljeva, Inta, Naudina, Maruta Solvita, Strautmanis, Jurgis, Stavusis, Janis, and Jankevics, Eriks

Subjects
body regions, Article Subject
Abstract

Limb-girdle muscular dystrophies (LGMDs) is a heterogeneous group of muscular dystrophies that mostly affect the pelvic and shoulder girdle muscle groups. We report here a case of neuromuscular disease associated with Dupuytren's contracture, which has never been described before as cosegregating with an autosomal dominant type of inheritance. Dupuytren's contracture is a common disease, especially in Northern Europe. Comorbid conditions associated with Dupuytren's contracture are repetitive trauma to the hands, diabetes, and seizures, but it has never before been associated with neuromuscular disease. We hypothesize that patients may harbor mutations in genes with functions related to neuromuscular disease and Dupuytren's contracture development.

Published
2013
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25. Complete mtDNA sequencing reveals mutations m.9185T>C and m.13513G>A in three patients with Leigh syndrome.

Author

Pelnena, Dita, Burnyte, Birute, Jankevics, Eriks, Lace, Baiba, Dagyte, Evelina, Grigalioniene, Kristina, Utkus, Algirdas, Krumina, Zita, Rozentale, Jolanta, Adomaitiene, Irina, Stavusis, Janis, Pliss, Liana, and Inashkina, Inna

Subjects
MITOCHONDRIAL DNA, NUCLEOTIDE sequencing, NEUROLOGICAL disorders, LACTIC acidosis, NEURODEGENERATION
Abstract

The most common mitochondrial disorder in children is Leigh syndrome, which is a progressive and genetically heterogeneous neurodegenerative disorder caused by mutations in nuclear genes or mitochondrial DNA (mtDNA). In the present study, a novel and robust method of complete mtDNA sequencing, which allows amplification of the whole mitochondrial genome, was tested. Complete mtDNA sequencing was performed in a cohort of patients with suspected mitochondrial mutations. Patients from Latvia and Lithuania (n = 92 and n = 57, respectively) referred by clinical geneticists were included. The de novo point mutations m.9185T>C and m.13513G>A, respectively, were detected in two patients with lactic acidosis and neurodegenerative lesions. In one patient with neurodegenerative lesions, the mutation m.9185T>C was identified. These mutations are associated with Leigh syndrome. The present data suggest that full-length mtDNA sequencing is recommended as a supplement to nuclear gene testing and enzymatic assays to enhance mitochondrial disease diagnostics. [ABSTRACT FROM AUTHOR]

Published
2018
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26. A New Baltic Population-Specific Human Genetic Marker in the PMCA4 Gene.

Author

Stavusis, Janis, Inashkina, Inna, Lace, Baiba, Pelnena, Dita, Limborska, Svetlana, Khrunin, Andrey, Kucinskas, Vaidutis, Krumina, Astrida, Piekuse, Linda, Zorn, Branko, Fodina, Violeta, Punab, Margus, and Erenpreiss, Juris

Subjects
GENETIC markers, ADENOSINE triphosphatase, MALE infertility
Abstract

Objectives: The PMCA gene family consists of 4 genes and at least 21 splice variants; among these, the Ca2+ ATPase 4 (PMCA4) gene encodes a plasma membrane protein abundantly expressed in several tissues, including the kidney, heart, and sperm. Knockout of PMCA4 causes infertility due to immotile sperm in mouse models. We therefore investigated variants in this gene for potential association with infertility in groups of Estonian (n = 191) and Latvian (n = 92) men with reduced sperm motility. Methods: All exons, exon- intron boundaries, 5' and 3' untranslated regions, and the promoter region of the PMCA4 gene were analysed by direct sequencing for a group of Estonian infertile men. Genotyp- ing of guanine and adenine alleles of rs147729934 was performed, using a custom-designed TaqMan® probe for a group of Latvian infertile men as well as additional groups from Latvia and several groups of people with proven ethnicity from the Baltic region. Results: Although we did not identify any significant associations between variants in the gene and infertility, our results indicated that in all studied Latvian and Estonian groups the adenine allele of the variant rs147729934 was present at a higher frequency than expected. Analysis of additional samples indicated that the adenine allele of rs147729934 likely originated once in the modern- day Baltic or western Russia area, as the frequency of the minor adenine allele observed in this region is remarkably higher than that in the general European population. Conclusions: Our results revealed no significant difference in frequencies of genetic variants in PMCA4 gene between men with normal and those with reduced sperm motility. The adenine allele of the variant rs147729934 is potentially an informative tool for future population studies concerning ancient Baltic and Finno-Ugric history. [ABSTRACT FROM AUTHOR]

Published
2017
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27. BCL3 gene role in facial morphology

Author

Lace, Baiba, primary, Kempa, Inga, additional, Klovins, Janis, additional, Stavusis, Janis, additional, Krumina, Astrida, additional, Akota, Ilze, additional, Barkane, Biruta, additional, Vieira, Alexandre R., additional, Nagle, Erika, additional, Grinfelde, Ieva, additional, and Maulina, Ieva, additional

Published
2012
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28. Association of BMP4 polymorphisms with non-syndromic cleft lip with or without cleft palate and isolated cleft palate in Latvian and Lithuanian populations.

Author

Kempa I, Ambrozaitytė L, Stavusis J, Akota I, Barkane B, Krumina A, Matulevičienė A, Utkus A, Kučinskas V, and Lace B

Subjects
Adenine, Case-Control Studies, Cytosine, Exons genetics, Female, Gene Frequency genetics, Genetic Linkage genetics, Genetic Markers genetics, Genotype, Guanine, Haplotypes genetics, Humans, Introns genetics, Latvia, Linkage Disequilibrium genetics, Lithuania, Male, Thymine, Bone Morphogenetic Protein 4 genetics, Cleft Lip genetics, Cleft Palate genetics, Polymorphism, Single Nucleotide genetics
Abstract

Cleft lip with or without cleft palate (CLP and CL, respectively) and isolated cleft palate (CP) represent one of the most common human birth defects, with a prevalence of approximately 1 in 300-2500 depending on the population. Formation of non-syndromic CL/CLP and CP arises from the interaction of environmental and genetic factors. The objective of this study was to investigate the association between the BMP4 gene (encoding bone morphogenetic protein 4) and non-syndromic CL/CLP and CP in order to clarify the role of this gene in the aetiology of the malformation in Latvian and Lithuanian populations. We genotyped three markers of the BMP4 gene (rs17563, rs2071047 and rs1957860) in order to perform single marker and haplotype association analyses for Latvian and Lithuanian non-syndromic CL/CLP and CP patients and controls. Transmission disequilibrium test was also conducted for Latvian and Lithuanian proband-parent trios. The case-control analysis revealed that SNP rs2071047 allele A was associated with a decreased risk of CL/CLP in the Latvian population, which was confirmed by the haplotype analysis. A modest association was detected between SNP rs1957860 and CP in the Lithuanian population, where allele C was associated with a decreased risk of this cleft phenotype, corroborating haplotype analysis data. Our findings support a role of the BMP4 gene in the aetiology of non-syndromic CL/CLP and CP in the studied populations.

Published
2014

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