PMC Articles for MedGen (Select 140806) - PMC

Select item 94842941.

A Case of Wiedemann-Rautenstrauch Syndrome With Fatal Hyperkalemic Renal Failure

Mohamed A Ghamry, Rehab Salah, Eslam I Galal, Shereen Henin, Monica Dobs

Cureus. 2022 Sep; 14(9): e29320. Published online 2022 Sep 19. doi: 10.7759/cureus.29320

PMCID:: PMC9484294

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Select item 82966882.

Whole-exome sequencing reveals POLR3B variants associated with progeria-related Wiedemann-Rautenstrauch syndrome

Shao-Wen Wu, Lin Li, Fan Feng, Li Wang, Yuan-Yuan Kong, Xiao-Wei Liu, Chenghong Yin

Ital J Pediatr. 2021; 47: 160. Published online 2021 Jul 21. doi: 10.1186/s13052-021-01112-6

PMCID:: PMC8296688

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Select item 77849143.

Unique combination and in silico modeling of biallelic POLR3A variants as a cause of Wiedemann–Rautenstrauch syndrome

Sehime Gulsun Temel, Mahmut Cerkez Ergoren, Elena Manara, Stefano Paolacci, Gulten Tuncel, Seref Gul, Matteo Bertelli

Eur J Hum Genet. 2020 Dec; 28(12): 1675–1680. Published online 2020 Jun 18. doi: 10.1038/s41431-020-0673-1

PMCID:: PMC7784914

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Select item 70807804.

A variant of neonatal progeroid syndrome, or Wiedemann–Rautenstrauch syndrome, is associated with a nonsense variant in POLR3GL

Eliane Beauregard-Lacroix, Smrithi Salian, Hyunyun Kim, Sophie Ehresmann, Guylaine DʹAmours, Julie Gauthier, Virginie Saillour, Geneviève Bernard, Grant A. Mitchell, Jean-François Soucy, Jacques L. Michaud, Philippe M. Campeau

Eur J Hum Genet. 2020 Apr; 28(4): 461–468. Published online 2019 Nov 6. doi: 10.1038/s41431-019-0539-6

PMCID:: PMC7080780

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Select item 62883185.

Bi-allelic POLR3A Loss-of-Function Variants Cause Autosomal-Recessive Wiedemann-Rautenstrauch Syndrome

Jennifer A. Wambach, Daniel J. Wegner, Nivedita Patni, Martin Kircher, Marcia C. Willing, Dustin Baldridge, Chao Xing, Anil K. Agarwal, Samantha A. Schrier Vergano, Chirag Patel, Dorothy K. Grange, Amy Kenney, Tasnim Najaf, Deborah A. Nickerson, Michael J. Bamshad, F. Sessions Cole, Abhimanyu Garg

Am J Hum Genet. 2018 Dec 6; 103(6): 968–975. Published online 2018 Nov 7. doi: 10.1016/j.ajhg.2018.10.010

PMCID:: PMC6288318

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Select item 10509826.

A maternally transmitted lethal neonatal progeroid syndrome with prominent genitourinary and gastrointestinal features.

M B Delatycki, M A Cleary, A Bankier, P N McDougall, J S Ahluwalia, C W Chow, C M Cooke-Yarborough

J Med Genet. 1997 Jun; 34(6): 520–524. doi: 10.1136/jmg.34.6.520

PMCID:: PMC1050982

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Select item 10509567.

Wiedemann-Rautenstrauch neonatal progeroid syndrome: report of three new patients.

H Arboleda, L Quintero, E Yunis

J Med Genet. 1997 May; 34(5): 433–437. doi: 10.1136/jmg.34.5.433

PMCID:: PMC1050956

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Select item 10160018.

Two sibs with Wiedemann-Rautenstrauch syndrome: possibilities of prenatal diagnosis by ultrasound.

G Castiñeyra, M Panal, H Lopez Presas, E Goldschmidt, J M Sánchez

J Med Genet. 1992 Jun; 29(6): 434–436. doi: 10.1136/jmg.29.6.434

PMCID:: PMC1016001

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Select item 70852439.

Energy Regulation Mechanism and Therapeutic Potential of Asprosin

Jennifer G. Hoffmann, Wei Xie, Atul R. Chopra

Diabetes. 2020 Apr; 69(4): 559–566. Published online 2020 Mar 16. doi: 10.2337/dbi19-0009

PMCID:: PMC7085243

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Select item 567362310.

De Novo Mutations in SLC25A24 Cause a Craniosynostosis Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial Dysfunction

Nadja Ehmke, Luitgard Graul-Neumann, Lukasz Smorag, Rainer Koenig, Lara Segebrecht, Pilar Magoulas, Fernando Scaglia, Esra Kilic, Anna F. Hennig, Nicolai Adolphs, Namrata Saha, Beatrix Fauler, Vera M. Kalscheuer, Friederike Hennig, Janine Altmüller, Christian Netzer, Holger Thiele, Peter Nürnberg, Gökhan Yigit, Marten Jäger, Jochen Hecht, Ulrike Krüger, Thorsten Mielke, Peter M. Krawitz, Denise Horn, Markus Schuelke, Stefan Mundlos, Carlos A. Bacino, Penelope E. Bonnen, Bernd Wollnik, Björn Fischer-Zirnsak, Uwe Kornak

Am J Hum Genet. 2017 Nov 2; 101(5): 833–843. Published online 2017 Nov 2. doi: 10.1016/j.ajhg.2017.09.016

PMCID:: PMC5673623

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Select item 964980811.

A synonymous variant contributes to a rare Wiedemann-Rautenstrauch syndrome complicated with mild anemia via affecting pre-mRNA splicing

Qiongling Peng, Yan Zhang, Binqiang Xian, Lianying Wu, Jianying Ding, Wuwu Ding, Xin Zhang, Bilan Ding, Ding Li, Jin Wu, Xiaowu Hu, Guanting Lu

Front Mol Neurosci. 2022; 15: 1026530. Published online 2022 Oct 28. doi: 10.3389/fnmol.2022.1026530

PMCID:: PMC9649808

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Select item 914942912.

Asprosin, a C-Terminal Cleavage Product of Fibrillin 1 Encoded by the FBN1 Gene, in Health and Disease

Mehmet Akif Ovali, Ibrahim Bozgeyik

Mol Syndromol. 2022 May; 13(3): 175–183. Published online 2022 Feb 8. doi: 10.1159/000520333

PMCID:: PMC9149429

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Select item 875855213.

Distinguishing severe phenotypes associated with pathogenic variants in POLR3A

Stefanie Perrier, Laurence Gauquelin, Jennifer A. Wambach, Geneviève Bernard

Am J Med Genet A. Author manuscript; available in PMC 2023 Feb 1.

Published in final edited form as: Am J Med Genet A. 2022 Feb; 188(2): 708–712. Published online 2021 Nov 12. doi: 10.1002/ajmg.a.62553

PMCID:: PMC8758552

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Select item 757754514.

Neurodevelopmental regression, severe generalized dystonia, and metabolic acidosis caused by POLR3A mutations

Vanessa Zanette, Aurelio Reyes, Mark Johnson, Daniel do Valle, Alan J. Robinson, Vaneisse Monteiro, Bruno Augusto Telles, Ricardo L.R. Souza, Mara L S.F. Santos, Cristiane Benincá, Massimo Zeviani

Neurol Genet. 2020 Dec; 6(6): e521. Published online 2020 Oct 7. doi: 10.1212/NXG.0000000000000521

PMCID:: PMC7577545

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Select item 727252615.

Fibrillin-1 and fibrillin-1-derived asprosin in adipose tissue function and metabolic disorders

Muthu L. Muthu, Dieter P. Reinhardt

J Cell Commun Signal. 2020 Jun; 14(2): 159–173. Published online 2020 Apr 12. doi: 10.1007/s12079-020-00566-3

PMCID:: PMC7272526

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Select item 665218616.

Analyses of LMNA-negative juvenile progeroid cases confirms biallelic POLR3A mutations in Wiedemann-Rautenstrauch-like syndrome and expands the phenotypic spectrum of PYCR1 mutations

Davor Lessel, Ayse Bilge Ozel, Susan E. Campbell, Abdelkrim Saadi, Martin F. Arlt, Keisha Melodi McSweeney, Vasilica Plaiasu, Katalin Szakszon, Anna Szőllős, Cristina Rusu, Armando J. Rojas, Jaime Lopez-Valdez, Holger Thiele, Peter Nürnberg, Deborah A. Nickerson, Michael J. Bamshad, Jun Z. Li, Christian Kubisch, Thomas W. Glover, Leslie B. Gordon

Hum Genet. Author manuscript; available in PMC 2019 Jul 24.

Published in final edited form as: Hum Genet. 2018 Dec; 137(11-12): 921–939. Published online 2018 Nov 19. doi: 10.1007/s00439-018-1957-1

PMCID:: PMC6652186

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Select item 485271017.

Asprosin, a Fasting-Induced Glucogenic Protein Hormone

Chase Romere, Clemens Duerrschmid, Juan Bournat, Petra Constable, Mahim Jain, Fan Xia, Pradip K. Saha, Maria Del Solar, Bokai Zhu, Brian York, Poonam Sarkar, David A. Rendon, M. Waleed Gaber, Scott A. LeMaire, Joseph S. Coselli, Dianna M. Milewicz, V. Reid Sutton, Nancy F. Butte, David D. Moore, Atul R. Chopra

Cell. Author manuscript; available in PMC 2017 Apr 21.

Published in final edited form as: Cell. 2016 Apr 21; 165(3): 566–579. Published online 2016 Apr 14. doi: 10.1016/j.cell.2016.02.063

PMCID:: PMC4852710

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Select item 450330218.

A Frame-Shift Mutation in CAV1 Is Associated with a Severe Neonatal Progeroid and Lipodystrophy Syndrome

Isabelle Schrauwen, Szabolcs Szelinger, Ashley L. Siniard, Ahmet Kurdoglu, Jason J. Corneveaux, Ivana Malenica, Ryan Richholt, Guy Van Camp, Matt De Both, Shanker Swaminathan, Mari Turk, Keri Ramsey, David W. Craig, Vinodh Narayanan, Matthew J. Huentelman

PLoS One. 2015; 10(7): e0131797. Published online 2015 Jul 15. doi: 10.1371/journal.pone.0131797

PMCID:: PMC4503302

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Select item 435058819.

New ZMPSTE24 (FACE1) mutations in patients affected with restrictive dermopathy or related progeroid syndromes and mutation update

Claire Laure Navarro, Vera Esteves-Vieira, Sébastien Courrier, Amandine Boyer, Thuy Duong Nguyen, Le Thi Thanh Huong, Peter Meinke, Winnie Schröder, Valérie Cormier-Daire, Yves Sznajer, David J Amor, Kristina Lagerstedt, Martine Biervliet, Peter C van den Akker, Pierre Cau, Patrice Roll, Nicolas Lévy, Catherine Badens, Manfred Wehnert, Annachiara De Sandre-Giovannoli

Eur J Hum Genet. 2014 Aug; 22(8): 1002–1011. Published online 2013 Oct 30. doi: 10.1038/ejhg.2013.258

PMCID:: PMC4350588

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