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Select item 109321831.

Mowat–Wilson Syndrome: Case Report and Review of ZEB2 Gene Variant Types, Protein Defects and Molecular Interactions

Caroline St. Peter, Waheeda A. Hossain, Scott Lovell, Syed K. Rafi, Merlin G. Butler

Int J Mol Sci. 2024 Mar; 25(5): 2838. Published online 2024 Feb 29. doi: 10.3390/ijms25052838

PMCID:: PMC10932183

Article PDF–2.5M

Select item 106962342.

Novel STAMBP mutations in a Chinese girl with rare symptoms of microcephaly-capillary malformation syndrome and Mowat-Wilson syndrome

Hui Wang, Zhan Wang, Taoyun Ji, Jun Tai, Qian Jiang

Heliyon. 2023 Dec; 9(12): e22989. Published online 2023 Nov 28. doi: 10.1016/j.heliyon.2023.e22989

PMCID:: PMC10696234

Article PDF–2.6M

Select item 106796623.

Mowat-Wilson syndrome factor ZEB2 controls early formation of human neural crest through BMP signaling modulation

Rebekah M. Charney, Maneeshi S. Prasad, Czarina Juan-Sing, Lipsa J. Patel, Jacqueline C. Hernandez, Jie Wu, Martín I. García-Castro

Stem Cell Reports. 2023 Nov 14; 18(11): 2254–2267. Published online 2023 Oct 26. doi: 10.1016/j.stemcr.2023.10.002

PMCID:: PMC10679662

Article PDF–3.3M

Select item 104606014.

Clinical Characteristics and Novel ZEB2 Gene Mutation Analysis of Three Chinese Patients with Mowat-Wilson Syndrome

Xiao Han, Qianjuan Zhang, Chengcheng Wang, Bingjuan Han

Pharmgenomics Pers Med. 2023; 16: 777–783. Published online 2023 Aug 23. doi: 10.2147/PGPM.S414161

PMCID:: PMC10460601

Article PDF–447K

Select item 102674945.

Mutated Transcripts of ZEB2 Do Not Undergo Nonsense-Mediated Decay in Mowat-Wilson Syndrome

Naz Güleray Lafcı, Beren Karaosmanoglu, Ekim Z. Taskiran, Pelin Ozlem Simsek-Kiper, Gülen Eda Utine

Mol Syndromol. 2023 Jun; 14(3): 258–265. Published online 2023 Feb 20. doi: 10.1159/000528769

PMCID:: PMC10267494

Article PDF–403K

Select item 100480716.

Zeb2 DNA-Binding Sites in Neuroprogenitor Cells Reveal Autoregulation and Affirm Neurodevelopmental Defects, Including in Mowat-Wilson Syndrome

Judith C. Birkhoff, Anne L. Korporaal, Rutger W. W. Brouwer, Karol Nowosad, Claudia Milazzo, Lidia Mouratidou, Mirjam C. G. N. van den Hout, Wilfred F. J. van IJcken, Danny Huylebroeck, Andrea Conidi

Genes (Basel) 2023 Mar; 14(3): 629. Published online 2023 Mar 2. doi: 10.3390/genes14030629

PMCID:: PMC10048071

Article PDF–3.9M

Select item 98642467.

First Case Report of Developmental Bilateral Cataract with a Novel Mutation in the ZEB2 Gene Observed in Mowat-Wilson Syndrome

Agnieszka Tronina, Marta Świerczyńska, Erita Filipek

Medicina (Kaunas) 2023 Jan; 59(1): 101. Published online 2023 Jan 2. doi: 10.3390/medicina59010101

PMCID:: PMC9864246

Article PDF–7.1M

Select item 96692708.

Physical, language, neurodevelopment and phenotype-genotype correlation of Chinese patients with Mowat-Wilson syndrome

Lihua Wu, Jianhong Wang, Lei Wang, Qi Xu, Bo Zhou, Zhen Zhang, Qi Li, Hui Wang, Lu Han, Qian Jiang, Lin Wang

Front Genet. 2022; 13: 1016677. Published online 2022 Nov 3. doi: 10.3389/fgene.2022.1016677

PMCID:: PMC9669270

Article PDF–1.6M

Select item 96377819.

ZEB2 haploinsufficient Mowat-Wilson syndrome induced pluripotent stem cells show disrupted GABAergic transcriptional regulation and function

Jens Schuster, Joakim Klar, Ayda Khalfallah, Loora Laan, Jan Hoeber, Ambrin Fatima, Velin Marita Sequeira, Zhe Jin, Sergiy V. Korol, Mikael Huss, Ann Nordgren, Britt Marie Anderlid, Caroline Gallant, Bryndis Birnir, Niklas Dahl

Front Mol Neurosci. 2022; 15: 988993. Published online 2022 Oct 24. doi: 10.3389/fnmol.2022.988993

PMCID:: PMC9637781

Article PDF–2.6M

Select item 963688410.

Mowat-Wilson Syndrome as a Differential Diagnosis in Patients with Congenital Heart Defects and Dysmorphic Facies

Harry Pachajoa, Eidith Gomez-Pineda, Sebastian Giraldo-Ocampo, Juliana Lores

Pharmgenomics Pers Med. 2022; 15: 913–918. Published online 2022 Nov 1. doi: 10.2147/PGPM.S380908

PMCID:: PMC9636884

Article PDF–434K

Select item 913411811.

Three Novel De Novo ZEB2 Variants Identified in Three Unrelated Chinese Patients With Mowat-Wilson Syndrome and A Systematic Review

Youqing Fu, Wanfang Xu, Qingming Wang, Yangyang Lin, Peiqing He, Yanhui Liu, Haiming Yuan

Front Genet. 2022; 13: 853183. Published online 2022 May 12. doi: 10.3389/fgene.2022.853183

PMCID:: PMC9134118

Article PDF–1.2M

Select item 883021512.

Mowat-Wilson syndrome presenting with Shone’s complex cardiac anomaly

Walaa Musaad, Aisling Lyons, Nicholas Allen, Johannes Letshwiti

BMJ Case Rep. 2022; 15(2): e246913. Published online 2022 Feb 9. doi: 10.1136/bcr-2021-246913

PMCID:: PMC8830215

Article PDF–143K

Select item 839637113.

A Chinese Boy with Mowat–Wilson Syndrome Caused by a 10 bp Deletion in the ZEB2 Gene

Lin Wei, Xiao Han, Xue Li, Bingjuan Han, Wenying Nie

Pharmgenomics Pers Med. 2021; 14: 1041–1045. Published online 2021 Aug 23. doi: 10.2147/PGPM.S320128

PMCID:: PMC8396371

Article PDF–452K

Select item 835769614.

Clinical characteristics of Polish patients with molecularly confirmed Mowat-Wilson syndrome

Aleksandra Jakubiak, Krzysztof Szczałuba, Magdalena Badura-Stronka, Anna Kutkowska-Kaźmierczak, Anna Jakubiuk-Tomaszuk, Tatiana Chilarska, Jacek Pilch, Natalia Braun-Walicka, Jennifer Castaneda, Katarzyna Wołyńska, Marzena Wiśniewska, Monika Kugaudo, Monika Bielecka, Karolina Pesz, Jolanta Wierzba, Anna Latos-Bieleńska, Ewa Obersztyn, Małgorzata Krajewska-Walasek, Robert Śmigiel

J Appl Genet. 2021; 62(3): 477–485. Published online 2021 May 12. doi: 10.1007/s13353-021-00636-1

PMCID:: PMC8357696

Article PDF–912K

Select item 830591615.

Neurological Phenotype of Mowat-Wilson Syndrome

Duccio Maria Cordelli, Veronica Di Pisa, Anna Fetta, Livia Garavelli, Lucia Maltoni, Luca Soliani, Emilia Ricci

Genes (Basel) 2021 Jul; 12(7): 982. Published online 2021 Jun 27. doi: 10.3390/genes12070982

PMCID:: PMC8305916

Article PDF–1.6M

Select item 815847816.

The Role of ZEB2 in Human CD8 T Lymphocytes: Clinical and Cellular Immune Profiling in Mowat–Wilson Syndrome

Katie Frith, C. Mee Ling Munier, Lucy Hastings, David Mowat, Meredith Wilson, Nabila Seddiki, Rebecca Macintosh, Anthony D. Kelleher, Paul Gray, John James Zaunders

Int J Mol Sci. 2021 May; 22(10): 5324. Published online 2021 May 18. doi: 10.3390/ijms22105324