Clinical, genetic, epidemiologic, evolutionary, and functional delineation of TSPEAR-related autosomal recessive ectodermal dysplasia 14

Authors: Adam Jackson, Sheng-Jia Lin, Elizabeth A. Jones, Kate E. Chandler, David Orr, Celia Moss, Zahra Haider, Gavin Ryan, Simon Holden, Mike Harrison, Nigel Burrows, Wendy D. Jones, Mary Loveless, Cassidy Petree, Helen Stewart, Karen Low, Deirdre Donnelly, Simon Lovell, Konstantina Drosou, Gaurav K. Varshney, Siddharth Banka, J.C. Ambrose, P. Arumugam, R. Bevers, M. Bleda, F. Boardman-Pretty, C.R. Boustred, H. Brittain, M.A. Brown, M.J. Caulfield, G.C. Chan, A. Giess, J.N. Griffin, A. Hamblin, S. Henderson, T.J.P. Hubbard, R. Jackson, L.J. Jones, D. Kasperaviciute, M. Kayikci, A. Kousathanas, L. Lahnstein, A. Lakey, S.E.A. Leigh, I.U.S. Leong, F.J. Lopez, F. Maleady-Crowe, M. McEntagart, F. Minneci, J. Mitchell, L. Moutsianas, M. Mueller, N. Murugaesu, A.C. Need, P. O‘Donovan, C.A. Odhams, C. Patch, D. Perez-Gil, M.B. Pereira, J. Pullinger, T. Rahim, A. Rendon, T. Rogers, K. Savage, K. Sawant, R.H. Scott, A. Siddiq, A. Sieghart, S.C. Smith, A. Sosinsky, A. Stuckey, M. Tanguy, A.L. Taylor Tavares, E.R.A. Thomas, S.R. Thompson, A. Tucci, M.J. Welland, E. Williams, K. Witkowska, S.M. Wood, M. Zarowiecki, Olaf Riess, Tobias B. Haack, Holm Graessner, Birte Zurek, Kornelia Ellwanger, Stephan Ossowski, German Demidov, Marc Sturm, Julia M. Schulze-Hentrich, Rebecca Schüle, Christoph Kessler, Melanie Wayand, Matthis Synofzik, Carlo Wilke, Andreas Traschütz, Ludger Schöls, Holger Hengel, Peter Heutink, Han Brunner, Hans Scheffer, Nicoline Hoogerbrugge, Alexander Hoischen, Peter A.C. ’t Hoen, Lisenka E.L.M. Vissers, Christian Gilissen, Wouter Steyaert, Karolis Sablauskas, Richarda M. de Voer, Erik-Jan Kamsteeg, Bart van de Warrenburg, Nienke van Os, Iris te Paske, Erik Janssen, Elke de Boer, Marloes Steehouwer, Burcu Yaldiz, Tjitske Kleefstra, Anthony J. Brookes, Colin Veal, Spencer Gibson, Marc Wadsley, Mehdi Mehtarizadeh, Umar Riaz, Greg Warren, Farid Yavari Dizjikan, Thomas Shorter, Ana Töpf, Volker Straub, Chiara Marini Bettolo, Sabine Specht, Jill Clayton-Smith, Elizabeth Alexander, Laurence Faivre, Christel Thauvin, Antonio Vitobello, Anne-Sophie Denommé-Pichon, Yannis Duffourd, Emilie Tisserant, Ange-Line Bruel, Christine Peyron, Aurore Pélissier, Sergi Beltran, Ivo Glynne Gut, Steven Laurie, Davide Piscia, Leslie Matalonga, Anastasios Papakonstantinou, Gemma Bullich, Alberto Corvo, Carles Garcia, Marcos Fernandez-Callejo, Carles Hernández, Daniel Picó, Ida Paramonov, Hanns Lochmüller, Gulcin Gumus, Virginie Bros-Facer, Ana Rath, Marc Hanauer, Annie Olry, David Lagorce, Svitlana Havrylenko, Katia Izem, Fanny Rigour, Giovanni Stevanin, Alexandra Durr, Claire-Sophie Davoine, Léna Guillot-Noel, Anna Heinzmann, Giulia Coarelli, Gisèle Bonne, Teresinha Evangelista, Valérie Allamand, Isabelle Nelson, Rabah Ben Yaou, Corinne Metay, Bruno Eymard, Enzo Cohen, Antonio Atalaia, Tanya Stojkovic, Milan Macek, Jr., Marek Turnovec, Dana Thomasová, Radka Pourová Kremliková, Vera Franková, Markéta Havlovicová, Vlastimil Kremlik, Helen Parkinson, Thomas Keane, Dylan Spalding, Alexander Senf, Peter Robinson, Daniel Danis, Glenn Robert, Alessia Costa, Christine Patch, Mike Hanna, Henry Houlden, Mary Reilly, Jana Vandrovcova, Francesco Muntoni, Irina Zaharieva, Anna Sarkozy, Vincent Timmerman, Jonathan Baets, Liedewei Van de Vondel, Danique Beijer, Peter de Jonghe, Vincenzo Nigro, Sandro Banfi, Annalaura Torella, Francesco Musacchia, Giulio Piluso, Alessandra Ferlini, Rita Selvatici, Rachele Rossi, Marcella Neri, Stefan Aretz, Isabel Spier, Anna Katharina Sommer, Sophia Peters, Carla Oliveira, Jose Garcia Pelaez, Ana Rita Matos, Celina São José, Marta Ferreira, Irene Gullo, Susana Fernandes, Luzia Garrido, Pedro Ferreira, Fátima Carneiro, Morris A. Swertz, Lennart Johansson, Joeri K. van der Velde, Gerben van der Vries, Pieter B. Neerincx, Dieuwke Roelofs-Prins, Sebastian Köhler, Alison Metcalfe, Alain Verloes, Séverine Drunat, Caroline Rooryck, Aurelien Trimouille, Raffaele Castello, Manuela Morleo, Michele Pinelli, Alessandra Varavallo, Manuel Posada De la Paz, Eva Bermejo Sánchez, Estrella López Martín, Beatriz Martínez Delgado, F. Javier Alonso García de la Rosa, Andrea Ciolfi, Bruno Dallapiccola, Simone Pizzi, Francesca Clementina Radio, Marco Tartaglia, Alessandra Renieri, Elisa Benetti, Peter Balicza, Maria Judit Molnar, Ales Maver, Borut Peterlin, Alexander Münchau, Katja Lohmann, Rebecca Herzog, Martje Pauly, Alfons Macaya, Anna Marcé-Grau, Andres Nascimiento Osorio, Daniel Natera de Benito, Rachel Thompson, Kiran Polavarapu, David Beeson, Judith Cossins, Pedro M. Rodriguez Cruz, Peter Hackman, Mridul Johari, Marco Savarese, Bjarne Udd, Rita Horvath, Gabriel Capella, Laura Valle, Elke Holinski-Feder, Andreas Laner, Verena Steinke-Lange, Evelin Schröck, Andreas Rump

Source: HGG Advances, Vol 4, Iss 2, Pp 100186- (2023)

Subject Terms: TSPEAR, Ectodermal dysplasia, Enamel knot, WNT10A, Hypodontia, Conical teeth, Genetics, QH426-470

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2666247723000180; https://doaj.org/toc/2666-2477

Access URL: https://doaj.org/article/2978ae9e34b04565adb7415c6d46eb52

Case report: Long-term follow-up of two patients with LHON caused by DNAJC30:c.152G>A pathogenic variant-case series

Authors: Sanja Petrovic Pajic, Martina Jarc-Vidmar, Ana Fakin, Maja Sustar Habjan, Jelka Brecelj, Marija Volk, Ales Maver, Borut Peterlin, Marko Hawlina

Source: Frontiers in Neurology, Vol 13 (2022)

Subject Terms: arLHON, DNAJC30:c.152G>A gene, 152 A>G (p.Tyr51Cys) pathogenic variant, visual acuity improvement, perimetry improvement, color vision improvement, Neurology. Diseases of the nervous system, RC346-429

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fneur.2022.1003046/full; https://doaj.org/toc/1664-2295

Access URL: https://doaj.org/article/43fe4c9e4e57462ab88305f12e2a93be

Transcriptome study of receptive endometrium in overweight and obese women shows important expression differences in immune response and inflammatory pathways in women who do not conceive.

Authors: Vesna Salamun, Eda Vrtacnik Bokal, Ales Maver, Tanja Burnik Papler

Source: PLoS ONE, Vol 16, Iss 12, p e0261873 (2021)

Subject Terms: Medicine, Science

File Description: electronic resource

Relation: https://doaj.org/toc/1932-6203

Access URL: https://doaj.org/article/b43f09ec0021453d97d3c242fc741ecb

Identification of rare genetic variation of NLRP1 gene in familial multiple sclerosis

Authors: Ales Maver, Polona Lavtar, Smiljana Ristić, Sanja Stopinšek, Saša Simčič, Keli Hočevar, Juraj Sepčić, Jelena Drulović, Tatjana Pekmezović, Ivana Novaković, Hodžić Alenka, Gorazd Rudolf, Saša Šega, Nada Starčević-Čizmarević, Anja Palandačić, Gordana Zamolo, Miljenko Kapović, Tina Likar, Borut Peterlin

Source: Scientific Reports, Vol 7, Iss 1, Pp 1-8 (2017)

Subject Terms: Medicine, Science

File Description: electronic resource

Relation: https://doaj.org/toc/2045-2322

Access URL: https://doaj.org/article/e4072727c70249fda8baa63505e6bb7c

Genetic testing offer for inherited neuromuscular diseases within the EURO-NMD reference network: A European survey study.

Authors: Borut Peterlin, Francesca Gualandi, Ales Maver, Serenella Servidei, Silvère M van der Maarel, Francoise Lamy, Alexander Mejat, Teresinha Evangelista, Alessandra Ferlini

Source: PLoS ONE, Vol 15, Iss 9, p e0239329 (2020)

Subject Terms: Medicine, Science

File Description: electronic resource

Relation: https://doaj.org/toc/1932-6203

Access URL: https://doaj.org/article/7319d679acbe4b5f808ec0d9ffd0df57

Transcriptomic Analysis and Meta-Analysis of Human Granulosa and Cumulus Cells.

Authors: Tanja Burnik Papler, Eda Vrtacnik Bokal, Ales Maver, Andreja Natasa Kopitar, Luca Lovrečić

Source: PLoS ONE, Vol 10, Iss 8, p e0136473 (2015)

Subject Terms: Medicine, Science

File Description: electronic resource

Relation: http://europepmc.org/articles/PMC4552299?pdf=render; https://doaj.org/toc/1932-6203

Access URL: https://doaj.org/article/28935dfdeb9c46fa9720d15f8e7da4f6

No specific gene expression signature in human granulosa and cumulus cells for prediction of oocyte fertilisation and embryo implantation.

Authors: Tanja Burnik Papler, Eda Vrtacnik Bokal, Luca Lovrecic, Andreja Natasa Kopitar, Ales Maver

Source: PLoS ONE, Vol 10, Iss 3, p e0115865 (2015)

Subject Terms: Medicine, Science

File Description: electronic resource

Relation: https://doaj.org/toc/1932-6203

Access URL: https://doaj.org/article/507fa0daa74f435babdc4996bd9af307

MicroRNAs Responsible for Inflammation in Obesity

Authors: Caroline Brettfeld (Department of Nutritional Sciences, Faculty of Life Sciences, University of Vienna), Ales Maver (Department of Human Genetics, University of Ljubljana), Eva Aumuller (Department of Nutritional Sciences, Faculty of Life Sciences, University of Vienna), Borut Peterlin (Department of Human Genetics, University of Ljubljana), Alexander G. Haslberger (Department of Nutritional Sciences, Faculty of Life Sciences, University of Vienna)

Availability: http://data.europeana.eu/aggregation/europeana/1300/https___phaidra_univie_ac_at_o_877013

Phenotype-driven gene target definition in clinical genome-wide sequencing data interpretation

Authors: Ales, Maver, Luca, Lovrecic, Marija, Volk, Gorazd, Rudolf, Karin, Writzl, Ana, Blatnik, Alenka, Hodzic, Peterlin, Borut

Source: In Genetics in Medicine November 2016 18(11):1102-1110

TTN:c.12478del in proximal I-band of titin represents a common molecular cause of dilated cardiomyopathy in Slovenian patients

Authors: Nina Vodnjov, Andraž Cerar, Aleš Maver, Borut Peterlin, Karin Writzl

Source: Orphanet Journal of Rare Diseases, Vol 20, Iss 1, Pp 1-9 (2025)

Subject Terms: Titin, TTNtv, I-band, TTN:c.12478del, Dilated cardiomyopathy, DCM, Medicine

File Description: electronic resource

Relation: https://doaj.org/toc/1750-1172

Access URL: https://doaj.org/article/12ad3d5bb09541daa65205fccb4869a6

Unraveling the complexity of skeletal dysplasias in the national health system

Authors: Dorra Najjar, Aleš Maver, Ana Peterlin, Helena Jaklič, Borut Peterlin

Source: Frontiers in Endocrinology, Vol 16 (2025)

Subject Terms: CNV, diagnostic yield, molecular pathology, NGS, prenatal diagnosis, rare genetic diseases, Diseases of the endocrine glands. Clinical endocrinology, RC648-665

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fendo.2025.1523737/full; https://doaj.org/toc/1664-2392

Access URL: https://doaj.org/article/db552b3a5da24294a63925bf226254b5

Enej Silvij Piccolomini in državno cerkvenstvo v poznem srednjem veku

Authors: Aleš Maver, Jure Peklar

Source: Keria: Studia Latina et Graeca, Vol 26, Iss 2 (2024)

Subject Terms: Branilec miru, državno cerkvenstvo, koncil v Baslu, konciliarizem, Pij II., Greek language and literature. Latin language and literature, PA

File Description: electronic resource

Relation: https://journals.uni-lj.si/keria/article/view/22067; https://doaj.org/toc/1580-0261; https://doaj.org/toc/2350-4234

Access URL: https://doaj.org/article/cfd865c9b8b14ec2923164215e25dbca

Variant-specific pathophysiological mechanisms of AFF3 differently influence transcriptome profiles

Authors: Sissy Bassani, Jacqueline Chrast, Giovanna Ambrosini, Norine Voisin, Frédéric Schütz, Alfredo Brusco, Fabio Sirchia, Lydia Turban, Susanna Schubert, Rami Abou Jamra, Jan-Ulrich Schlump, Desiree DeMille, Pinar Bayrak-Toydemir, Gary Rex Nelson, Kristen Nicole Wong, Laura Duncan, Mackenzie Mosera, Christian Gilissen, Lisenka E. L. M. Vissers, Rolph Pfundt, Rogier Kersseboom, Hilde Yttervik, Geir Åsmund Myge Hansen, Marie Falkenberg Smeland, Kameryn M. Butler, Michael J. Lyons, Claudia M. B. Carvalho, Chaofan Zhang, James R. Lupski, Lorraine Potocki, Leticia Flores-Gallegos, Rodrigo Morales-Toquero, Florence Petit, Binnaz Yalcin, Annabelle Tuttle, Houda Zghal Elloumi, Lane McCormick, Mary Kukolich, Oliver Klaas, Judit Horvath, Marcello Scala, Michele Iacomino, Francesca Operto, Federico Zara, Karin Writzl, Aleš Maver, Maria K. Haanpää, Pia Pohjola, Harri Arikka, Anneke J. A. Kievit, Camilla Calandrini, Christian Iseli, Nicolas Guex, Alexandre Reymond

Source: Genome Medicine, Vol 16, Iss 1, Pp 1-18 (2024)

Subject Terms: Mesomelic dysplasia, Horseshoe kidney, Intellectual disability, Transcriptome, Zebrafish model, Medicine, Genetics, QH426-470

File Description: electronic resource

Relation: https://doaj.org/toc/1756-994X

Access URL: https://doaj.org/article/0358fc56f6054b188a138c71c996e968

Utility of next-generation sequencing in identifying congenital erythrocytosis in patients with idiopathic erythrocytosis

Authors: Saša Anžej Doma, Nika Kraljić, Aleša Kristan, Nataša Debeljak, Aleš Maver, Tadej Pajič, Irena Preložnik Zupan

Source: Frontiers in Medicine, Vol 11 (2024)

Subject Terms: non-clonal erythrocytosis, congenital erythrocytosis, next-generation sequencing, erythropoietin, hemochromatosis, Medicine (General), R5-920

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fmed.2024.1440712/full; https://doaj.org/toc/2296-858X

Access URL: https://doaj.org/article/c87e5cdebb334e71a89c41aff22e607a

Through Different Paths to Symphony: The Historical Framework of the Relationship between Eastern Orthodoxy and Political Authorities in Ukraine and Russia

Authors: Aleš Maver

Source: Edinost in Dialog, Vol 78, Iss 1, Pp 15-41 (2023)

Subject Terms: eastern orthodoxy in eastern europe, kyiv, peter the great, church politics in russia, ukrainian struggle for autocephaly, ≫political orthodoxy≪, History and principles of religions, BL660-2680, Practical Theology, BV1-5099, Religion (General), BL1-50

File Description: electronic resource

Relation: https://www.teof.uni-lj.si/uploads/File/Edinost/78/01/Maver.pdf; https://doaj.org/toc/2335-4127; https://doaj.org/toc/2385-8907

Access URL: https://doaj.org/article/8ca810df97b846d6887a810de48065b1

The Genetic Architecture of Congenital Heart Disease in Neonatal Intensive Care Unit Patients—The Experience of University Medical Centre, Ljubljana

Authors: Ana Peterlin, Sara Bertok, Karin Writzl, Luca Lovrečić, Aleš Maver, Borut Peterlin, Maruša Debeljak, Gregor Nosan

Source: Life, Vol 14, Iss 9, p 1118 (2024)

Subject Terms: congenital heart disease, chromosomal microarray analysis, next-generation sequencing, diagnostic yield, Science

File Description: electronic resource

Relation: https://www.mdpi.com/2075-1729/14/9/1118; https://doaj.org/toc/2075-1729

Access URL: https://doaj.org/article/c8de490009d64f8a8114c8222891020a

Assessment of pathogenic variation in gynecologic cancer genes in a national cohort

Authors: Urška Kotnik, Aleš Maver, Borut Peterlin, Luca Lovrecic

Source: Scientific Reports, Vol 13, Iss 1, Pp 1-9 (2023)

Subject Terms: Medicine, Science

File Description: electronic resource

Relation: https://doaj.org/toc/2045-2322

Access URL: https://doaj.org/article/b2a362aa7ac249ad854c20c94f24b909

A multicenter study of genetic testing for Parkinson’s disease in the clinical setting

Authors: Anja Kovanda, Valentino Rački, Gaber Bergant, Dejan Georgiev, Dušan Flisar, Eliša Papić, Marija Brankovic, Milena Jankovic, Marina Svetel, Nataša Teran, Aleš Maver, Vladimir S. Kostic, Ivana Novakovic, Zvezdan Pirtošek, Martin Rakuša, Vladimira Vuletić, Borut Peterlin

Source: npj Parkinson's Disease, Vol 8, Iss 1, Pp 1-4 (2022)

Subject Terms: Neurology. Diseases of the nervous system, RC346-429

File Description: electronic resource

Relation: https://doaj.org/toc/2373-8057

Access URL: https://doaj.org/article/8212afa2f27e4934942d7333f97b9926

Tit Livij: Od ustanovitve mesta (6.1–6.5)

Authors: Tit Livij, Aleš Maver

Source: Clotho, Vol 5, Iss 1 (2023)

Subject Terms: Livij, rimska zgodovina, latinska književnost, Ab urbe condita, Mark Furij Kamil, Philosophy. Psychology. Religion

File Description: electronic resource

Relation: https://journals.uni-lj.si/clotho/article/view/15435; https://doaj.org/toc/2670-6210; https://doaj.org/toc/2670-6229

Access URL: https://doaj.org/article/c97972ca3d3f4b2a93838d3e9f260e5d

Oral microbiome and preterm birth

Authors: Marijana Vidmar Šimic, Aleš Maver, Ana Nyasha Zimani, Keli Hočevar, Borut Peterlin, Anja Kovanda, Tanja Premru-Sršen

Source: Frontiers in Medicine, Vol 10 (2023)

Subject Terms: preterm delivery, microbiome, 16S rRNA gene, 16S rDNA, oral microbiome, pregnancy, Medicine (General), R5-920

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fmed.2023.1177990/full; https://doaj.org/toc/2296-858X

Access URL: https://doaj.org/article/92aefc82863340969ab6e2d116398d9d