Novel Therapeutic Avenues for dynein-related Ciliopathies

Publikacje

Isolated Hypomethylation of IGF2 Associated with Severe Hypoglycemia Responsive to Growth Hormone Treatment

Autorzy: Sarah C. Grünert, Uta Matysiak, Franka Hodde, Gunda Ruzaike, Ekkehart Lausch, Anke Schumann, Natascha van der Werf-Grohmann, Ute Spiekerkoetter, Miriam Schmidts
Opublikowane w: Diagnostics, Numer 11/5, 2021, Strona(/y) 749, ISSN 2075-4418
Wydawca: MDPI
DOI: 10.3390/diagnostics11050749

A Homozygous Deletion of Exon 5 of KYNU Resulting from a Maternal Chromosome 2 Isodisomy (UPD2) Causes Catel-Manzke-Syndrome/VCRL Syndrome

Autorzy: Isabel Schüle, Urs Berger, Uta Matysiak, Gunda Ruzaike, Brigitte Stiller, Martin Pohl, Ute Spiekerkoetter, Ekkehart Lausch, Sarah C. Grünert, Miriam Schmidts
Opublikowane w: Genes, Numer 12/6, 2021, Strona(/y) 879, ISSN 2073-4425
Wydawca: Multidisciplinary Digital Publishing Institute (MDPI)
DOI: 10.3390/genes12060879

Ciliary Dyneins and Dynein Related Ciliopathies

Autorzy: Antony, Dinu; Brunner, Han G.; Schmidts, Miriam
Opublikowane w: Cells, 2021, ISSN 2073-4409
Wydawca: MDPI
DOI: 10.3390/cells10081885

Biallelic mutations in neurofascin cause neurodevelopmental impairment and peripheral demyelination

Autorzy: Stephanie Efthymiou, Vincenzo Salpietro, Nancy Malintan, Mallory Poncelet, Yamna Kriouile, Sara Fortuna, Rita De Zorzi, Katelyn Payne, Lindsay B Henderson, Andrea Cortese, Sateesh Maddirevula, Nadia Alhashmi, Sarah Wiethoff, Mina Ryten, Juan A Botia, Vincenzo Provitera, Markus Schuelke, Jana Vandrovcova, Stanislav Groppa, Blagovesta Marinova Karashova, Wolfgang Nachbauer, Sylvia Boesch, Larissa Ar
Opublikowane w: Brain, Numer 142/10, 2019, Strona(/y) 2948-2964, ISSN 0006-8950
Wydawca: Oxford University Press
DOI: 10.1093/brain/awz248

Parental Whole-Exome Sequencing Enables Sialidosis Type II Diagnosis due to an NEU1 Missense Mutation as an Underlying Cause of Nephrotic Syndrome in the Child

Autorzy: Reza Maroofian, Isabel Schuele, Maryam Najafi, Zeineb Bakey, Abolfazl Rad, Dinu Antony, Haleh Habibi, Miriam Schmidts
Opublikowane w: Kidney International Reports, Numer 3/6, 2018, Strona(/y) 1454-1463, ISSN 2468-0249
Wydawca: Elsevier
DOI: 10.1016/j.ekir.2018.07.015

Identification of three novel homozygous variants in COL9A3 causing autosomal recessive Stickler syndrome

Autorzy: Aboulfazl Rad, Maryam Najafi, Fatemeh Suri, Soheila Abedini, Stephen Loum, Ehsan Ghayoor Karimiani, Narsis Daftarian, David Murphy, Mohammad Doosti, Afrooz Moghaddasi, Hamid Ahmadieh, Hamideh Sabbaghi, Mohsen Rajati, Narges Hashemi, Barbara Vona & Miriam Schmidts
Opublikowane w: Orphanet Journal of Rare Diseases, 2022, ISSN 1750-1172
Wydawca: BioMed Central
DOI: 10.1186/s13023-022-02244-6

Bi-allelic GAD1 variants cause a neonatal onset syndromic developmental and epileptic encephalopathy

Autorzy: Nicolas Chatron, Felicitas Becker, Heba Morsy, Miriam Schmidts, Katia Hardies, Beyhan Tuysuz, Sandra Roselli, Maryam Najafi, Dilek Uludag Alkaya, Farah Ashrafzadeh, Amira Nabil, Tarek Omar, Reza Maroofian, Ehsan Ghayoor Karimiani, Haytham Hussien, Fernando Kok, Luiza Ramos, Nilay Gunes, Kaya Bilguvar, Audrey Labalme, Eudeline Alix, Damien Sanlaville, Julitta de Bellescize, Anne-Lise Poulat, Ingo H
Opublikowane w: Brain, Numer 143/5, 2020, Strona(/y) 1447-1461, ISSN 0006-8950
Wydawca: Oxford University Press
DOI: 10.1093/brain/awaa085

Spectrum of Genetic Variants in a Cohort of 37 Laterality Defect Cases

Autorzy: Dinu Antony, Elif Gulec Yilmaz, Alper Gezdirici, Lennart Slagter, Zeineb Bakey, Helen Bornaun, Ibrahim Cansaran Tanidir, Tran Van Dinh, Han G Brunner, Peter Walentek, Sebastian J Arnold, Rolf Backofen, Miriam Schmidts
Opublikowane w: Frontiers in Genetics, 2022, ISSN 1664-8021
Wydawca: Frontiers Media
DOI: 10.3389/fgene.2022.861236

Compound heterozygous IFT140 variants in two Polish families with Sensenbrenner syndrome and early onset end-stage renal disease

Autorzy: Joanna Walczak-Sztulpa, Renata Posmyk, Ewelina M. Bukowska-Olech, Anna Wawrocka, Aleksander Jamsheer, Machteld M. Oud, Miriam Schmidts, Heleen H. Arts, Anna Latos-Bielenska, Anna Wasilewska
Opublikowane w: Orphanet Journal of Rare Diseases, Numer 15/1, 2020, ISSN 1750-1172
Wydawca: BioMed Central
DOI: 10.1186/s13023-020-1303-2

Homozygous loss-of-function mutations in MNS1 cause laterality defects and likely male infertility

Autorzy: Asaf Ta-Shma, Rim Hjeij, Zeev Perles, Gerard W. Dougherty, Ibrahim Abu Zahira, Stef J. F. Letteboer, Dinu Antony, Alaa Darwish, Dorus A. Mans, Sabrina Spittler, Christine Edelbusch, Sandra Cindrić, Tabea Nöthe-Menchen, Heike Olbrich, Friederike Stuhlmann, Isabella Aprea, Petra Pennekamp, Niki T. Loges, Oded Breuer, Avraham Shaag, Azaria J. J. T. Rein, Elif Yilmaz Gulec, Alper Gezdirici, Revital
Opublikowane w: PLOS Genetics, Numer 14/8, 2018, Strona(/y) e1007602, ISSN 1553-7404
Wydawca: PLOS
DOI: 10.1371/journal.pgen.1007602

Mutations in PIH1D3 Cause X-Linked Primary Ciliary Dyskinesia with Outer and Inner Dynein Arm Defects

Autorzy: Tamara Paff, Niki T. Loges, Isabella Aprea, Kaman Wu, Zeineb Bakey, Eric G. Haarman, Johannes M.A. Daniels, Erik A. Sistermans, Natalija Bogunovic, Gerard W. Dougherty, Inga M. Höben, Jörg Große-Onnebrink, Anja Matter, Heike Olbrich, Claudius Werner, Gerard Pals, Miriam Schmidts, Heymut Omran, Dimitra Micha
Opublikowane w: The American Journal of Human Genetics, Numer 100/1, 2017, Strona(/y) 160-168, ISSN 0002-9297
Wydawca: University of Chicago Press
DOI: 10.1016/j.ajhg.2016.11.019

Mutations in C11orf70 Cause Primary Ciliary Dyskinesia with Randomization of Left/Right Body Asymmetry Due to Defects of Outer and Inner Dynein Arms

Autorzy: Inga M. Höben, Rim Hjeij, Heike Olbrich, Gerard W. Dougherty, Tabea Nöthe-Menchen, Isabella Aprea, Diana Frank, Petra Pennekamp, Bernd Dworniczak, Julia Wallmeier, Johanna Raidt, Kim G. Nielsen, Maria C. Philipsen, Francesca Santamaria, Laura Venditto, Israel Amirav, Huda Mussaffi, Freerk Prenzel, Kaman Wu, Zeineb Bakey, Miriam Schmidts, Niki T. Loges, Heymut Omran
Opublikowane w: The American Journal of Human Genetics, Numer 102/5, 2018, Strona(/y) 973-984, ISSN 0002-9297
Wydawca: University of Chicago Press
DOI: 10.1016/j.ajhg.2018.03.025

CiliaCarta: An integrated and validated compendium of ciliary genes

Autorzy: Teunis J. P. van Dam, Julie Kennedy, Robin van der Lee, Erik de Vrieze, Kirsten A. Wunderlich, Suzanne Rix, Gerard W. Dougherty, Nils J. Lambacher, Chunmei Li, Victor L. Jensen, Michel R. Leroux, Rim Hjeij, Nicola Horn, Yves Texier, Yasmin Wissinger, Jeroen van Reeuwijk, Gabrielle Wheway, Barbara Knapp, Jan F. Scheel, Brunella Franco, Dorus A. Mans, Erwin van Wijk, François Képès, Gisela G. Sla
Opublikowane w: PLOS ONE, Numer 14/5, 2019, Strona(/y) e0216705, ISSN 1932-6203
Wydawca: Public Library of Science
DOI: 10.1371/journal.pone.0216705

Recessive DNAH9 Loss-of-Function Mutations Cause Laterality Defects and Subtle Respiratory Ciliary-Beating Defects

Autorzy: Niki T. Loges, Dinu Antony, Ales Maver, Matthew A. Deardorff, Elif Yýlmaz Güleç, Alper Gezdirici, Tabea Nöthe-Menchen, Inga M. Höben, Lena Jelten, Diana Frank, Claudius Werner, Johannes Tebbe, Kaman Wu, Elizabeth Goldmuntz, Goran Čuturilo, Bryan Krock, Alyssa Ritter, Rim Hjeij, Zeineb Bakey, Petra Pennekamp, Bernd Dworniczak, Han Brunner, Borut Peterlin, Cansaran Tanidir, Heike Olbrich, Heym
Opublikowane w: The American Journal of Human Genetics, Numer 103/6, 2018, Strona(/y) 995-1008, ISSN 0002-9297
Wydawca: University of Chicago Press
DOI: 10.1016/j.ajhg.2018.10.020

Hypomorphic mutations of TRIP11 cause odontochondrodysplasia

Autorzy: Anika Wehrle, Tomasz M. Witkos, Sheila Unger, Judith Schneider, John A. Follit, Johannes Hermann, Tim Welting, Virginia Fano, Marja Hietala, Nithiwat Vatanavicharn, Katharina Schoner, Jürgen Spranger, Miriam Schmidts, Bernhard Zabel, Gregory J. Pazour, Agnes Bloch-Zupan, Gen Nishimura, Andrea Superti-Furga, Martin Lowe, Ekkehart Lausch
Opublikowane w: JCI Insight, Numer 4/3, 2019, ISSN 2379-3708
Wydawca: American Society for Clinical Investigation
DOI: 10.1172/jci.insight.124701

Cellular ciliary phenotyping indicates pathogenicity of novel variants in IFT140 and confirms a Mainzer–Saldino syndrome diagnosis

Autorzy: Machteld M. Oud, Brooke L. Latour, Zeineb Bakey, Stef J. Letteboer, Dorien Lugtenberg, Ka Man Wu, Elisabeth A. M. Cornelissen, Helger G. Yntema, Miriam Schmidts, Ronald Roepman, Ernie M. H. F. Bongers
Opublikowane w: Cilia, Numer 7/1, 2018, ISSN 2046-2530
Wydawca: BMC Springer Nature
DOI: 10.1186/s13630-018-0055-2

Biallelic loss of function variants in PPP1R21 cause a neurodevelopmental syndrome with impaired endocytic function

Autorzy: Atteeq U. Rehman, Maryam Najafi, Marios Kambouris, Lihadh Al Gazali, Periklis Makrythanasis, Abolfazl Rad, Reza Maroofian, Anna Rajab, Zornitza Stark, Jill V. Hunter, Zeineb Bakey, Mari J. Tokita, Weimin He, Francesco Vetrini, Andrea Petersen, Federico A. Santoni, Hanan Hamamy, Kaman Wu, Fatma Al Jasmi, Martin Helmstädter, Sebastian J. Arnold, Fan Xia, Christopher Richmond, Pengfei Liu, Ehsan Gha
Opublikowane w: Human Mutation, 2018, ISSN 1059-7794
Wydawca: John Wiley & Sons Inc.
DOI: 10.1002/humu.23694

MAB21L1 loss of function causes a syndromic neurodevelopmental disorder with distinctive c erebellar, o cular, cranio f acial and g enital features (COFG syndrome)

Autorzy: Abolfazl Rad, Umut Altunoglu, Rebecca Miller, Reza Maroofian, Kiely N James, Ahmet Okay Çağlayan, Maryam Najafi, Valentina Stanley, Rose-Mary Boustany, Gözde Yeşil, Afsaneh Sahebzamani, Gülhan Ercan-Sencicek, Kolsoum Saeidi, Kaman Wu, Peter Bauer, Zeineb Bakey, Joseph G Gleeson, Natalie Hauser, Murat Gunel, Hulya Kayserili, Miriam Schmidts
Opublikowane w: Journal of Medical Genetics, Numer 56/5, 2019, Strona(/y) 332-339, ISSN 0022-2593
Wydawca: British Medical Association
DOI: 10.1136/jmedgenet-2018-105623

Mimicry and well known genetic friends: molecular diagnosis in an Iranian cohort of suspected Bartter syndrome and proposition of an algorithm for clinical differential diagnosis

Autorzy: Maryam Najafi, Dor Mohammad Kordi-Tamandani, Farkhondeh Behjati, Simin Sadeghi-Bojd, Zeineb Bakey, Ehsan Ghayoor Karimiani, Isabel Schüle, Anoush Azarfar, Miriam Schmidts
Opublikowane w: Orphanet Journal of Rare Diseases, Numer 14/1, 2019, ISSN 1750-1172
Wydawca: BioMed Central
DOI: 10.1186/s13023-018-0981-5

A 57 kB Genomic Deletion Causing CTNS Loss of Function Contributes to the CTNS Mutational Spectrum in the Middle East

Autorzy: Maryam Najafi, Dor Mohammad Kordi Tamandani, Anoush Azarfar, Zeineb Bakey, Farkhondeh Behjati, Dinu Antony, Isabel Schüle, Simin Sadeghi-Bojd, Ehsan Ghayoor Karimiani, Miriam Schmidts
Opublikowane w: Frontiers in Pediatrics, Numer 7, 2019, ISSN 2296-2360
Wydawca: Frontiers
DOI: 10.3389/fped.2019.00089

Expanding the clinical phenotype of IARS2-related mitochondrial disease

Autorzy: Barbara Vona, Reza Maroofian, Emanuele Bellacchio, Maryam Najafi, Kyle Thompson, Ahmad Alahmad, Langping He, Najmeh Ahangari, Abolfazl Rad, Sima Shahrokhzadeh, Paulina Bahena, Falk Mittag, Frank Traub, Jebrail Movaffagh, Nafise Amiri, Mohammad Doosti, Reza Boostani, Ebrahim Shirzadeh, Thomas Haaf, Daria Diodato, Miriam Schmidts, Robert W. Taylor, Ehsan Ghayoor Karimiani
Opublikowane w: BMC Medical Genetics, Numer 19/1, 2018, ISSN 1471-2350
Wydawca: BioMed Central
DOI: 10.1186/s12881-018-0709-3

Bi-allelic variants in HOPS complex subunit VPS41 cause cerebellar ataxia and abnormal membrane trafficking

Autorzy: Leslie E Sanderson, Kristina Lanko, Maysoon Alsagob, Rawan Almass, Nada Al-Ahmadi, Maryam Najafi, Mohammad A Al-Muhaizea, Hamad Alzaidan, Hesham AlDhalaan, Elena Perenthaler, Herma C van der Linde, Anita Nikoncuk, Nikolas A Kühn, Dinu Antony, Tarek Mustafa Owaidah, Salmo Raskin, Luana Gabriela Dalla Rosa Vieira, Romulo Mombach, Najmeh Ahangari, Tainá Regina Damaceno Silveira, Najim Ameziane, Arn
Opublikowane w: Brain, Numer 144/3, 2021, Strona(/y) 769-780, ISSN 0006-8950
Wydawca: Oxford University Press
DOI: 10.1093/brain/awaa459

Loss of CBY1 results in a ciliopathy characterized by features of Joubert syndrome

Autorzy: Daniel Epting, Lokuliyange D. S. Senaratne, Elisabeth Ott, Asbjørn Holmgren, Dulika Sumathipala, Selma M. Larsen, Julia Wallmeier, Diana Bracht, Kari‐Anne M. Frikstad, Suzanne Crowley, Alma Sikiric, Tuva Barøy, Barbara Käsmann‐Kellner, Eva Decker, Christian Decker, Nadine Bachmann, Sebastian Patzke, Ian G. Phelps, Nicholas Katsanis, Rachel Giles, Miriam Schmidts, Manuela Zucknick, Soeren S.
Opublikowane w: Human Mutation, Numer 41/12, 2020, Strona(/y) 2179-2194, ISSN 1059-7794
Wydawca: John Wiley & Sons Inc.
DOI: 10.1002/humu.24127

Cilia in cystic kidney and other diseases

Autorzy: Gregory J. Pazour, Lynne Quarmby, Abigail O. Smith, Paurav B. Desai, Miriam Schmidts
Opublikowane w: Cellular Signalling, Numer 69, 2020, Strona(/y) 109519, ISSN 0898-6568
Wydawca: Elsevier BV
DOI: 10.1016/j.cellsig.2019.109519

Flow stimulates drug transport in a human kidney proximal tubule-on-a-chip independent of primary cilia

Autorzy: Jelle Vriend, Janny G.P. Peters, Tom T.G. Nieskens, Renata Škovroňová, Nina Blaimschein, Miriam Schmidts, Ronald Roepman, Tom J.J. Schirris, Frans G.M. Russel, Rosalinde Masereeuw, Martijn J. Wilmer
Opublikowane w: Biochimica et Biophysica Acta (BBA) - General Subjects, Numer 1864/1, 2020, Strona(/y) 129433, ISSN 0304-4165
Wydawca: Elsevier BV
DOI: 10.1016/j.bbagen.2019.129433

Renal and Skeletal Anomalies in a Cohort of Individuals With Clinically Presumed Hereditary Nephropathy Analyzed by Molecular Genetic Testing

Autorzy: Michaela Stippel, Korbinian M. Riedhammer, Bärbel Lange-Sperandio, Michaela Geßner, Matthias C. Braunisch, Roman Günthner, Martin Bald, Miriam Schmidts, Peter Strotmann, Velibor Tasic, Christoph Schmaderer, Lutz Renders, Uwe Heemann, Julia Hoefele
Opublikowane w: Frontiers in Genetics, Numer 12, 2021, ISSN 1664-8021
Wydawca: Frontiers Media
DOI: 10.3389/fgene.2021.642849

Rare genetic variants affecting urine metabolite levels link population variation to inborn errors of metabolism

Autorzy: Yurong Cheng, Pascal Schlosser, Johannes Hertel, Peggy Sekula, Peter J. Oefner, Ute Spiekerkoetter, Johanna Mielke, Daniel F. Freitag, Miriam Schmidts, Florian Kronenberg, Kai-Uwe Eckardt, Ines Thiele, Yong Li, Anna Köttgen
Opublikowane w: Nature Communications, Numer 12/1, 2021, ISSN 2041-1723
Wydawca: Nature Publishing Group
DOI: 10.1038/s41467-020-20877-8

Base editing derived models of human WDR34 and WDR60 disease alleles replicate retrograde IFT and hedgehog signaling defects and suggest disturbed Golgi protein transport

Autorzy: Antony D, Güleç EY, Bakey Z, Schüle I, Kim G, Skatulla I, Brunner HG, Arnold SJ, Schmidts M
Opublikowane w: BioRxiv, 2022, ISSN 2692-8205
Wydawca: Cold Spring Harbor Laboratory
DOI: 10.1101/2022.03.14.483768

Editorial: Genetic Kidney Diseases of Childhood

Autorzy: Miriam Schmidts, Max C. Liebau
Opublikowane w: Frontiers in Pediatrics, Numer 6, 2018, ISSN 2296-2360
Wydawca: Frontiers
DOI: 10.3389/fped.2018.00409

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