PMC Articles for MedGen (Select 941664) - PMC

Select item 109613561.

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

Abstract Article PDF–2.0M

Select item 94216822.

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

Abstract Article PDF–834K

Select item 75404093.

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

Abstract Article PDF–906K

Select item 106176264.

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

Abstract Article

Select item 81151485.

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

Abstract Article PDF–1.4M

Select item 69131466.

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

Abstract Article PDF–1.1M

Select item 108372787.

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

Abstract Article PDF–410K

Select item 63286138.

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

Abstract Article PDF–6.3M

Select item 63280909.

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

Abstract Article PDF–9.1M

Select item 628457910.

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

Abstract Article PDF–2.1M

Select item 588039711.

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