Zobrazeno 1 - 10
of 147
pro vyhledávání: '"Karin Buiting"'
Renal X-inactivation in female individuals with X-linked Alport syndrome primarily determined by age
Autor:
Roman Günthner, Lea Knipping, Stefanie Jeruschke, Robin Satanoskij, Bettina Lorenz-Depiereux, Clara Hemmer, Matthias C. Braunisch, Korbinian M. Riedhammer, Jasmina Ćomić, Burkhard Tönshoff, Velibor Tasic, Nora Abazi-Emini, Valbona Nushi-Stavileci, Karin Buiting, Nikola Gjorgjievski, Ana Momirovska, Ludwig Patzer, Martin Kirschstein, Oliver Gross, Adrian Lungu, Stefanie Weber, Lutz Renders, Uwe Heemann, Thomas Meitinger, Anja K. Büscher, Julia Hoefele
Publikováno v:
Frontiers in Medicine, Vol 9 (2022)
X-linked Alport syndrome (AS) caused by hemizygous disease-causing variants in COL4A5 primarily affects males. Females with a heterozygous state show a diverse phenotypic spectrum ranging from microscopic hematuria to end-stage kidney disease (ESKD)
Externí odkaz:
https://doaj.org/article/b7bb8aa91fa849b0bfdf65d2e43b6deb
Autor:
Hela Sassi, Yasmina Elaribi, Houweyda Jilani, Imen Rejeb, Syrine Hizem, Molka Sebai, Nadia Kasdallah, Habib Bouthour, Samia Hannachi, Jasmin Beygo, Ali Saad, Karin Buiting, Dorra H’mida Ben‐Brahim, Lamia BenJemaa
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 9, Iss 10, Pp n/a-n/a (2021)
Abstract Background Beckwith–Wiedemann syndrome (BWS) is a rare overgrowth syndrome characterized by congenital malformations and predisposition to embryonic tumors. Loss of methylation of imprinting center 2 (IC2) is the most frequent alteration a
Externí odkaz:
https://doaj.org/article/fc40ee2cb6c545c19d90a77e319e55ec
Autor:
Jasmin Beygo, Claudia Mertel, Sabine Kaya, Gabriele Gillessen-Kaesbach, Thomas Eggermann, Bernhard Horsthemke, Karin Buiting
Publikováno v:
Epigenetics, Vol 13, Iss 8, Pp 822-828 (2018)
Temple syndrome (TS14) is a rare imprinting disorder caused by genetic and epigenetic alterations on chromosome 14q32. A subset of these patients shows an imprinting defect (ID) where the paternal allele harbors a maternal epigenotype thus silencing
Externí odkaz:
https://doaj.org/article/2dedb7cd87464bab982259b254e89412
Recommendations for a nomenclature system for reporting methylation aberrations in imprinted domains
Autor:
David Monk, Joannella Morales, Johan T. den Dunnen, Silvia Russo, Franck Court, Dirk Prawitt, Thomas Eggermann, Jasmin Beygo, Karin Buiting, Zeynep Tümer, the Nomenclature group of the European Network for Human Congenital Imprinting Disorders
Publikováno v:
Epigenetics, Vol 13, Iss 2, Pp 117-121 (2018)
The analysis of DNA methylation has become routine in the pipeline for diagnosis of imprinting disorders, with many publications reporting aberrant methylation associated with imprinted differentially methylated regions (DMRs). However, comparisons b
Externí odkaz:
https://doaj.org/article/8c2fc76343b646629c10575a2b21ff9b
Autor:
Deniz Kanber, Karin Buiting, Christian Roos, Jörg Gromoll, Sabine Kaya, Bernhard Horsthemke, Dietmar Lohmann
Publikováno v:
PLoS ONE, Vol 8, Iss 11, p e81502 (2013)
The human RB1 gene is imprinted due to a differentially methylated CpG island in intron 2. This CpG island is part of PPP1R26P1, a truncated retrocopy of PPP1R26, and serves as a promoter for an alternative RB1 transcript. We show here by in silico a
Externí odkaz:
https://doaj.org/article/58d2deffbea1402da0ea74790ee35ec5
Autor:
Jasmin Beygo, Ole Ammerpohl, Daniela Gritzan, Melanie Heitmann, Katrin Rademacher, Julia Richter, Almuth Caliebe, Reiner Siebert, Bernhard Horsthemke, Karin Buiting
Publikováno v:
PLoS ONE, Vol 8, Iss 10, p e76953 (2013)
NLRP7 is a maternal effect gene as maternal mutations in this gene cause recurrent hydatidiform moles, spontaneous abortions and stillbirths, whereas live births are very rare. We have studied a patient with multiple anomalies born to a mother with a
Externí odkaz:
https://doaj.org/article/b267fa47602e407cbe702eab9b649df3
Autor:
Jasmin Beygo, Ole Ammerpohl, Daniela Gritzan, Melanie Heitmann, Katrin Rademacher, Julia Richter, Almuth Caliebe, Reiner Siebert, Bernhard Horsthemke, Karin Buiting
Publikováno v:
PLoS ONE, Vol 8, Iss 12 (2013)
Externí odkaz:
https://doaj.org/article/9816cf63afe24c779c703cd199537ce4
Autor:
Laura Steenpass, Deniz Kanber, Michaela Hiber, Karin Buiting, Bernhard Horsthemke, Dietmar Lohmann
Publikováno v:
PLoS ONE, Vol 8, Iss 9, p e74159 (2013)
The human retinoblastoma gene (RB1) is imprinted; the mouse Rb1 gene is not. Imprinted expression of RB1 is due to differential methylation of a CpG island (CpG85), which is located in the pseudogene PPP1R26P1 in intron 2 of RB1. CpG85 serves as prom
Externí odkaz:
https://doaj.org/article/2c3a2e8ad94e49b4aa99f63ea7b7da40
Autor:
Deniz Kanber, Tea Berulava, Ole Ammerpohl, Diana Mitter, Julia Richter, Reiner Siebert, Bernhard Horsthemke, Dietmar Lohmann, Karin Buiting
Publikováno v:
PLoS Genetics, Vol 5, Iss 12, p e1000790 (2009)
Genomic imprinting is an epigenetic process leading to parent-of-origin-specific DNA methylation and gene expression. To date, approximately 60 imprinted human genes are known. Based on genome-wide methylation analysis of a patient with multiple impr
Externí odkaz:
https://doaj.org/article/b8c51a4f612341f2bc83812216029fba
Autor:
Samia Hannachi, Nadia Kasdallah, Ali Saad, H. Bouthour, Lamia BenJemaa, Houweyda Jilani, Dorra H'mida Ben-Brahim, H. Sassi, Molka Sebai, Jasmin Beygo, Imen Rejeb, Syrine Hizem, Yasmina Elaribi, Karin Buiting
Publikováno v:
Molecular Genetics & Genomic Medicine
Molecular Genetics & Genomic Medicine, Vol 9, Iss 10, Pp n/a-n/a (2021)
Molecular Genetics & Genomic Medicine, Vol 9, Iss 10, Pp n/a-n/a (2021)
Background Beckwith–Wiedemann syndrome (BWS) is a rare overgrowth syndrome characterized by congenital malformations and predisposition to embryonic tumors. Loss of methylation of imprinting center 2 (IC2) is the most frequent alteration and rarely
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d169c88acc49bed58603bab7f8ef258b
https://www.scopus.com/inward/record.url?partnerID=HzOxMe3b&origin=inward&scp=85114661901
https://www.scopus.com/inward/record.url?partnerID=HzOxMe3b&origin=inward&scp=85114661901