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Items: 1 to 20 of 26

1.
A Witteveen-Kolk Syndrome Patient with Reflux Disease and a de novo Deletion of the SIN3A Gene
Eyyup Uctepe, Nefise Kandemir, Firdevs Dinçsoy Bir, Asuman Nur Karhan, Sait Tumer, Emine Busra Ondes, Bahadır Konuskan, Ahmet Yesilyurt
Mol Syndromol. 2024 Jun; 15(3): 251–256. Published online 2024 Jan 30. doi: 10.1159/000536072
PMCID:
PMC11149967
AbstractArticlePDF–445K
2.
Case report: Novel SIN3A loss-of-function variant as causative for hypogonadotropic hypogonadism in Witteveen–Kolk syndrome
Lourdes Correa Brito, Ana Keselman, Florencia Villegas, Paula Scaglia, María Esnaola Azcoiti, Sebastián Castro, Nora Sanguineti, Agustín Izquierdo, Marianela Maier, Ignacio Bergadá, Claudia Arberas, Rodolfo A. Rey, María Gabriela Ropelato
Front Genet. 2024; 15: 1354715. Published online 2024 Mar 11. doi: 10.3389/fgene.2024.1354715
PMCID:
PMC10961356
AbstractArticlePDF–2.0M
3.
A rare presentation of childhood interstitial lung disease attributed to KDM3B gene mutation: a case report
Zaineb Benslimane, Sinan Yavuz, Nader Francis
Pan Afr Med J. 2023; 46: 84. Published online 2023 Nov 13. doi: 10.11604/pamj.2023.46.84.41457
PMCID:
PMC10837278
AbstractArticlePDF–410K
4.
SIN-3 acts in distinct complexes to regulate the germline transcriptional program in Caenorhabditis elegans
Valerie J. Robert, Matthieu Caron, Loic Gely, Annie Adrait, Victoria Pakulska, Yohann Couté, Manon Chevalier, Christian G. Riedel, Cecile Bedet, Francesca Palladino
Development. 2023 Nov 1; 150(21): dev201755. Published online 2023 Oct 17. doi: 10.1242/dev.201755
PMCID:
PMC10617626
AbstractArticle
5.
Exome Sequencing Identifies a Novel SIN3A Variant in a Patient with Witteveen-Kolk Syndrome
Monica Penon-Portmann, Colleen M. Carlston, Pierre-Marie Martin, Anne Slavotinek
Mol Syndromol. 2022 Jul; 13(4): 337–342. Published online 2022 Feb 25. doi: 10.1159/000520042
PMCID:
PMC9421682
AbstractArticlePDF–834K
6.
Molecular and phenotypic characteristics of 15q24 microdeletion in pediatric patients with developmental disorders
Yuanyuan Zhang, Xiaoliang Liu, Haiming Gao, Wanting Cui, Bijun Zhang, Yanyan Zhao
Mol Cytogenet. 2021; 14: 57. Published online 2021 Dec 18. doi: 10.1186/s13039-021-00574-x
PMCID:
PMC8684056
AbstractArticlePDF–1.2M
7.
Neuroplastin in Neuropsychiatric Diseases
Xiao Lin, Yi Liang, Rodrigo Herrera-Molina, Dirk Montag
Genes (Basel) 2021 Oct; 12(10): 1507. Published online 2021 Sep 26. doi: 10.3390/genes12101507
PMCID:
PMC8535836
AbstractArticlePDF–1.3M
8.
Comprehensive study of 28 individuals with SIN3A-related disorder underscoring the associated mild cognitive and distinctive facial phenotype
Meena Balasubramanian, Alexander J. M. Dingemans, Shadi Albaba, Ruth Richardson, Thabo M. Yates, Helen Cox, Sofia Douzgou, Ruth Armstrong, Francis H. Sansbury, Katherine B. Burke, Andrew E. Fry, Nicola Ragge, Saba Sharif, Alison Foster, Annachiara De Sandre-Giovannoli, Sahar Elouej, Pradeep Vasudevan, Sahar Mansour, Kate Wilson, Helen Stewart, Solveig Heide, Caroline Nava, Boris Keren, Serwet Demirdas, Alice S. Brooks, Marie Vincent, Bertrand Isidor, Sebastien Küry, Meyke Schouten, Erika Leenders, Wendy K. Chung, Arie van Haeringen, Thomas Scheffner, Francois-Guillaume Debray, Susan M. White, Maria Irene Valenzuela Palafoll, Rolph Pfundt, Ruth Newbury-Ecob, Tjitske Kleefstra
Eur J Hum Genet. 2021 Apr; 29(4): 625–636. Published online 2021 Jan 12. doi: 10.1038/s41431-020-00769-7
PMCID:
PMC8115148
AbstractArticlePDF–1.4M
9.
Behavior and cognitive functioning in Witteveen–Kolk syndrome
Linde C. M. van Dongen, Ellen Wingbermühle, Alexander J. M. Dingemans, Anja G. Bos‐Roubos, Karlijn Vermeulen, Monica Pop‐Purceleanu, Tjitske Kleefstra, Jos I. M. Egger
Am J Med Genet A. 2020 Oct; 182(10): 2384–2390. Published online 2020 Aug 11. doi: 10.1002/ajmg.a.61775
PMCID:
PMC7540409
AbstractArticlePDF–906K
10.
Coexistence of urogenital malformations in a female fetus with de novo 15q24 microdeletion and a literature review
Yaobin Liu, Beth Mapow
Mol Genet Genomic Med. 2020 Jul; 8(7): e1265. Published online 2020 May 13. doi: 10.1002/mgg3.1265
PMCID:
PMC7336734
AbstractArticlePDF–1.1M
11.
Three rare disease diagnoses in one patient through exome sequencing
Alejandro Ferrer, Laura Schultz-Rogers, Charu Kaiwar, Jennifer L. Kemppainen, Eric W. Klee, Ralitza H. Gavrilova
Cold Spring Harb Mol Case Stud. 2019 Dec; 5(6): a004390. doi: 10.1101/mcs.a004390
PMCID:
PMC6913146
AbstractArticlePDF–1.1M
12.
GORAB scaffolds COPI at the trans-Golgi for efficient enzyme recycling and correct protein glycosylation
Tomasz M. Witkos, Wing Lee Chan, Merja Joensuu, Manuel Rhiel, Ed Pallister, Jane Thomas-Oates, A. Paul Mould, Alex A. Mironov, Christophe Biot, Yann Guerardel, Willy Morelle, Daniel Ungar, Felix T. Wieland, Eija Jokitalo, May Tassabehji, Uwe Kornak, Martin Lowe
Nat Commun. 2019; 10: 127. Published online 2019 Jan 10. doi: 10.1038/s41467-018-08044-6
PMCID:
PMC6328613
AbstractArticlePDF–6.3M
13.
A common pathomechanism in GMAP-210– and LBR-related diseases
Anika Wehrle, Tomasz M. Witkos, Judith C. Schneider, Anselm Hoppmann, Sidney Behringer, Anna Köttgen, Mariet Elting, Jürgen Spranger, Martin Lowe, Ekkehart Lausch
JCI Insight. 2018 Dec 6; 3(23): e121150. Published online 2018 Dec 6. doi: 10.1172/jci.insight.121150
PMCID:
PMC6328090
AbstractArticlePDF–9.1M
14.
A potential role of extended simple sequence repeats in competing endogenous RNA crosstalk
Tomasz M. Witkos, Wlodzimierz J. Krzyzosiak, Agnieszka Fiszer, Edyta Koscianska
RNA Biol. 2018; 15(11): 1399–1409. Published online 2018 Nov 5. doi: 10.1080/15476286.2018.1536593
PMCID:
PMC6284579
AbstractArticlePDF–2.1M
15.
Impaired proteoglycan glycosylation, elevated TGF-β signaling, and abnormal osteoblast differentiation as the basis for bone fragility in a mouse model for gerodermia osteodysplastica
Wing Lee Chan, Magdalena Steiner, Tomasz Witkos, Johannes Egerer, Björn Busse, Shuji Mizumoto, Jan M. Pestka, Haikuo Zhang, Ingrid Hausser, Layal Abo Khayal, Claus-Eric Ott, Mateusz Kolanczyk, Bettina Willie, Thorsten Schinke, Chiara Paganini, Antonio Rossi, Kazuyuki Sugahara, Michael Amling, Petra Knaus, Danny Chan, Martin Lowe, Stefan Mundlos, Uwe Kornak
PLoS Genet. 2018 Mar; 14(3): e1007242. Published online 2018 Mar 21. doi: 10.1371/journal.pgen.1007242
PMCID:
PMC5880397
AbstractArticlePDF–10M
16.
Clinical Significance and Prognostic Relevance of Microsatellite Instability in Sporadic Colorectal Cancer Patients
Angelika Copija, Dariusz Waniczek, Andrzej Witkoś, Katarzyna Walkiewicz, Ewa Nowakowska-Zajdel
Int J Mol Sci. 2017 Jan; 18(1): 107. Published online 2017 Jan 6. doi: 10.3390/ijms18010107
PMCID:
PMC5297741
AbstractArticlePDF–221K
17.
An inferential study of the phenotype for the chromosome 15q24 microdeletion syndrome: a bootstrap analysis
Antonio Palazón-Bru, Dolores Ramírez-Prado, Ernesto Cortés, María Soledad Aguilar-Segura, Vicente Francisco Gil-Guillén
PeerJ. 2016; 4: e1641. Published online 2016 Feb 4. doi: 10.7717/peerj.1641
PMCID:
PMC4768676
AbstractArticlePDF–612K
18.
Cooperation meets competition in microRNA-mediated DMPK transcript regulation
Edyta Koscianska, Tomasz M. Witkos, Emilia Kozlowska, Marzena Wojciechowska, Wlodzimierz J. Krzyzosiak
Nucleic Acids Res. 2015 Oct 30; 43(19): 9500–9518. Published online 2015 Aug 24. doi: 10.1093/nar/gkv849
PMCID:
PMC4627076
AbstractArticlePDF–616K
19.
Sequence Features of Drosha and Dicer Cleavage Sites Affect the Complexity of IsomiRs
Julia Starega-Roslan, Tomasz M. Witkos, Paulina Galka-Marciniak, Wlodzimierz J. Krzyzosiak
Int J Mol Sci. 2015 Apr; 16(4): 8110–8127. Published online 2015 Apr 10. doi: 10.3390/ijms16048110
PMCID:
PMC4425070
AbstractArticlePDF–2.3M
20.
Genomic analyses of patients with unexplained early onset scoliosis
Xiaochong Gao, Garrett Gotway, Karl Rathjen, Charles Johnston, Steven Sparagana, Carol A. Wise
Spine Deform. Author manuscript; available in PMC 2015 Sep 1.
Published in final edited form as: Spine Deform. 2014 Sep 1; 2(5): 324–332. doi: 10.1016/j.jspd.2014.04.014
PMCID:
PMC4228381
AbstractArticlePDF–1.4M

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