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Select item 102159981.

Mother and Daughter with Short Stature, Microcephaly, Mild Dysmorphic Features, and Learning Disabilities Due to Ververi-Brady Syndrome Associated with a New Variant of the QRICH1 Gene

Marija Roddate, Gita Tauriņa, Vladimirs Krutovs, Dmitrijs Rots, Viktorija Kēniņa

Am J Case Rep. 2023; 24: e939217-1–e939217-6. Published online 2023 May 22. doi: 10.12659/AJCR.939217

PMCID:: PMC10215998

Abstract Article PDF–1.9M

Select item 106195032.

The human channel gating–modifying A749G CACNA1D (Cav1.3) variant induces a neurodevelopmental syndrome–like phenotype in mice

Nadine J. Ortner, Anupam Sah, Enrica Paradiso, Josef Shin, Strahinja Stojanovic, Niklas Hammer, Maria Haritonova, Nadja T. Hofer, Andrea Marcantoni, Laura Guarina, Petronel Tuluc, Tamara Theiner, Florian Pitterl, Karl Ebner, Herbert Oberacher, Emilio Carbone, Nadia Stefanova, Francesco Ferraguti, Nicolas Singewald, Jochen Roeper, Jörg Striessnig

JCI Insight. 2023 Oct 23; 8(20): e162100. Published online 2023 Oct 23. doi: 10.1172/jci.insight.162100

PMCID:: PMC10619503

Abstract Article PDF–2.1M

Select item 106317553.

Autism spectrum disorder in a patient with Nicolaides-Baraitser Syndrome: case report

Derek Chaves Lopes, Lorenna Sena Teixeira Mendes, Inês Catão Henriques Ferreira

Einstein (Sao Paulo) 2023; 21: eRC0480. Published online 2023 Oct 26. doi: 10.31744/einstein_journal/2023RC0480

PMCID:: PMC10631755

Abstract Article PDF–164K

Select item 106308784.

Difluoromethylornithine rebalances aberrant polyamine ratios in Snyder–Robinson syndrome

Tracy Murray Stewart, Jackson R Foley, Cassandra E Holbert, Maxim Khomutov, Noushin Rastkari, Xianzun Tao, Alex R Khomutov, R Grace Zhai, Robert A Casero, Jr

EMBO Mol Med. 2023 Nov; 15(11): e17833. Published online 2023 Sep 13. doi: 10.15252/emmm.202317833

PMCID:: PMC10630878

Abstract Article PDF–802K

Select item 106308755.

Trichothiodystrophy‐associated MPLKIP maintains DBR1 levels for proper lariat debranching and ectodermal differentiation

Arjan F Theil, Alex Pines, Tuğba Kalayci, José M Heredia‐Genestar, Anja Raams, Marion H Rietveld, Sriram Sridharan, Sabine EJ Tanis, Klaas W Mulder, Nesimi Büyükbabani, Birsen Karaman, Zehra O Uyguner, Hülya Kayserili, Jan HJ Hoeijmakers, Hannes Lans, Jeroen AA Demmers, Joris Pothof, Umut Altunoglu, Abdoelwaheb El Ghalbzouri, Wim Vermeulen

EMBO Mol Med. 2023 Nov; 15(11): e17973. Published online 2023 Oct 6. doi: 10.15252/emmm.202317973

PMCID:: PMC10630875

Abstract Article PDF–3.9M

Select item 106308646.

Rebalancing polyamine levels to treat Snyder–Robinson syndrome

Susan K Gilmour

EMBO Mol Med. 2023 Nov; 15(11): e18506. Published online 2023 Sep 15. doi: 10.15252/emmm.202318506

PMCID:: PMC10630864

Abstract Article PDF–353K

Select item 106255417.

Systemic and intrinsic functions of ATRX in glial cell fate and CNS myelination in male mice

Megan E. Rowland, Yan Jiang, Sarfraz Shafiq, Alireza Ghahramani, Miguel A. Pena-Ortiz, Vanessa Dumeaux, Nathalie G. Bérubé

Nat Commun. 2023; 14: 7090. Published online 2023 Nov 4. doi: 10.1038/s41467-023-42752-y

PMCID:: PMC10625541

Abstract Article PDF–3.8M

Select item 106209448.

Biallelic PRMT7 pathogenic variants are associated with a recognizable syndromic neurodevelopmental disorder with short stature, obesity, and craniofacial and digital abnormalities

Elisa Cali, Mohnish Suri, Marcello Scala, Matteo P. Ferla, Shahryar Alavi, Eissa Ali Faqeih, Emilia K. Bijlsma, Kristen M. Wigby, Diana Baralle, Mohammad Y.V. Mehrjardi, Jennifer Schwab, Konrad Platzer, Katharina Steindl, Mais Hashem, Marilyn Jones, Dmitriy M. Niyazov, Jennifer Jacober, Rebecca Okashah Littlejohn, Denisa Weis, Neda Zadeh, Lance Rodan, Alice Goldenberg, François Lecoquierre, Marina Dutra-Clarke, Gabriella Horvath, Dana Young, Naama Orenstein, Shahad Bawazeer, Anneke T. Vulto-van Silfhout, Yvan Herenger, Mohammadreza Dehghani, Seyed Mohammad Seyedhassani, Amir Bahreini, Mahya E. Nasab, A. Gulhan Ercan-Sencicek, Zahra Firoozfar, Mojtaba Movahedinia, Stephanie Efthymiou, Pasquale Striano, Ehsan Ghayoor Karimiani, Vincenzo Salpietro, Jenny C. Taylor, Melody Redman, Alexander P.A. Stegmann, Andreas Laner, Ghada Abdel-Salam, Megan Li, Mario Bengala, Amelie Johanna Müller, Maria C. Digilio, Anita Rauch, Murat Gunel, Hannah Titheradge, Daniela N. Schweitzer, Alison Kraus, Irene Valenzuela, Scott D. McLean, Chanika Phornphutkul, Mustafa Salih, Amber Begtrup, Rhonda E. Schnur, Erin Torti, Tobias B. Haack, Carlos E. Prada, Fowzan S. Alkuraya, Henry Houlden, Reza Maroofian

Genet Med. 2023 Jan; 25(1): 135–142. doi: 10.1016/j.gim.2022.09.016

PMCID:: PMC10620944

Abstract Article PDF–1.9M

Select item 106203999.

Henry Oppermann, Elia Marcos-Grañeda, Linnea A. Weiss, Christina A. Gurnett, Anne Marie Jelsig, Susanne H. Vineke, Bertrand Isidor, Sandra Mercier, Kari Magnussen, Pia Zacher, Mona Hashim, Alistair T. Pagnamenta, Simone Race, Siddharth Srivastava, Zoë Frazier, Robert Maiwald, Matthias Pergande, Donatella Milani, Martina Rinelli, Jonathan Levy, Ilona Krey, Paolo Fontana, Fortunato Lonardo, Stephanie Riley, Jasmine Kretzer, Julia Rankin, Linda M. Reis, Elena V. Semina, Miriam S. Reuter, Stephen W. Scherer, Maria Iascone, Denisa Weis, Christina R. Fagerberg, Charlotte Brasch-Andersen, Lars Kjaersgaard Hansen, Alma Kuechler, Nathan Noble, Alice Gardham, Jessica Tenney, Geetanjali Rathore, Stefanie Beck-Woedl, Tobias B. Haack, Despoina C. Pavlidou, Isis Atallah, Julia Vodopiutz, Andreas R. Janecke, Tzung-Chien Hsieh, Hellen Lesmann, Hannah Klinkhammer, Peter M. Krawitz, Johannes R. Lemke, Rami Abou Jamra, Marta Nieto, Zeynep Tümer, Konrad Platzer

Eur J Hum Genet. 2023 Nov; 31(11): 1251–1260. Published online 2023 Aug 30. doi: 10.1038/s41431-023-01445-2

PMCID:: PMC10620399

Abstract Article PDF–3.6M

Select item 1062036810.

Whole-exome sequencing revealed a novel homozygous missense variant in OSGEP gene: a case report of Galloway–Mowat syndrome in Iran

Emran Esmaeilzadeh, Arman Moradi, Hamid Reza Khorram Khorshid

CEN Case Rep. 2023 Nov; 12(4): 374–377. Published online 2023 Mar 1. doi: 10.1007/s13730-023-00775-w

PMCID:: PMC10620368

Abstract Article PDF–627K

Select item 1063402011.

Deletion in 1p36.33-p36.32 is associated with pancytopenia: a case report

Huanhuan Yang, Jun Huang, Hao Zheng, Yunfan Zhang, Yuanzhen Zhang, Wei Liu, Jinrong Wu, Xiaobin Chen, Jinfeng Lin, Yanna Ni, Xiaojing Nie

BMC Med Genomics. 2023; 16: 282. Published online 2023 Nov 9. doi: 10.1186/s12920-023-01723-4

PMCID:: PMC10634020

Abstract Article PDF–1.0M

Select item 1061810012.

Adnp-mutant mice with cognitive inflexibility, CaMKIIα hyperactivity, and synaptic plasticity deficits

Heejin Cho, Taesun Yoo, Heera Moon, Hyojin Kang, Yeji Yang, MinSoung Kang, Esther Yang, Dowoon Lee, Daehee Hwang, Hyun Kim, Doyoun Kim, Jin Young Kim, Eunjoon Kim

Mol Psychiatry. 2023; 28(8): 3548–3562. Published online 2023 Jun 26. doi: 10.1038/s41380-023-02129-5

Correction in:: Mol Psychiatry. 2023; 28(8): 3563.

PMCID:: PMC10618100

Abstract Article PDF–8.6M

Select item 1061762613.

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 1061223514.

An unexpected presentation of very severe hypertriglyceridemia in a boy with Coffin-Lowry syndrome: a case report

Sue Lyn Tan, Muhammad Ghazali bin Ahmad Narihan, Ai Jiun Koa

BMC Pediatr. 2023; 23: 541. Published online 2023 Oct 28. doi: 10.1186/s12887-023-04376-5

PMCID:: PMC10612235

Abstract Article PDF–855K

Select item 1060676015.

From Feeding Challenges to Oral-Motor Dyspraxia: A Comprehensive Description of 10 New Cases with CTNNB1 Syndrome

Roberta Onesimo, Elisabetta Sforza, Valentina Trevisan, Chiara Leoni, Valentina Giorgio, Donato Rigante, Eliza Maria Kuczynska, Francesco Proli, Cristiana Agazzi, Domenico Limongelli, Maria Cistina Digilio, Maria Lisa Dentici, Maria Macchiaiolo, Antonio Novelli, Andrea Bartuli, Lorenzo Sinibaldi, Marco Tartaglia, Giuseppe Zampino

Genes (Basel) 2023 Oct; 14(10): 1843. Published online 2023 Sep 22. doi: 10.3390/genes14101843

PMCID:: PMC10606760

Abstract Article PDF–284K

Select item 1060611016.

Identification of a Novel FOXP1 Variant in a Patient with Hypotonia, Intellectual Disability, and Severe Speech Impairment

Mario Benvenuto, Pietro Palumbo, Ester Di Muro, Concetta Simona Perrotta, Tommaso Mazza, Giuseppa Maria Luana Mandarà, Orazio Palumbo, Massimo Carella

Genes (Basel) 2023 Oct; 14(10): 1958. Published online 2023 Oct 18. doi: 10.3390/genes14101958

PMCID:: PMC10606110

Abstract Article PDF–707K

Select item 1060607717.

Seven Additional Patients with SOX17 Related Pulmonary Arterial Hypertension and Review of the Literature

Natalia Gallego-Zazo, Lucía Miranda-Alcaraz, Alejandro Cruz-Utrilla, María Jesús del Cerro Marín, María Álvarez-Fuente, María del Mar Rodríguez Vázquez del Rey, Inmaculada Guillén Rodríguez, Victor Manuel Becerra-Munoz, Amparo Moya-Bonora, Nuria Ochoa Parra, Alejandro Parra, Patricia Pascual, Mario Cazalla, Cristina Silván, Pedro Arias, Diana Valverde, Vinicio de Jesús-Pérez, Pablo Lapunzina, Pilar Escribano-Subías, Jair Tenorio-Castano

Genes (Basel) 2023 Oct; 14(10): 1965. Published online 2023 Oct 20. doi: 10.3390/genes14101965

PMCID:: PMC10606077

Abstract Article PDF–7.0M

Select item 1059977018.

Factores de riesgo en el origen del síndrome de Down

Aurora Blanco-Montaño, Monserrat Ramos-Arenas, Bryssia Adilene Yerena-Echevarría, Laura Daniela Miranda-Santizo, Ana Luisa Ríos-Celis, Ammi Tzahala Dorantes-Gómez, Alondra Jackeline Morato-Rangel, Jessica Alejandra Meza-Hernández, Elisa Daniela Acosta-Saldívar, Carlos Diego Aguilar-Castillo, Alan Cárdenas-Conejo

Rev Med Inst Mex Seguro Soc. 2023 Sep-Oct; 61(5): 638–644. Spanish. doi: 10.5281/zenodo.8316459

PMCID:: PMC10599770

Abstract Article PDF–691K

Select item 1064449819.

A mouse model of ATRX deficiency with cognitive deficits and autistic traits

Katherine M. Quesnel, Nicole Martin-Kenny, Nathalie G. Bérubé

J Neurodev Disord. 2023; 15: 39. Published online 2023 Nov 13. doi: 10.1186/s11689-023-09508-7

PMCID:: PMC10644498

Abstract Article PDF–3.8M

Select item 1064486620.

A phase I oncolytic virus trial with vesicular stomatitis virus expressing human interferon beta and tyrosinase related protein 1 administered intratumorally and intravenously in uveal melanoma: safety, efficacy, and T cell responses

Katherine E. R. Smith, Kah-Whye Peng, Jose S. Pulido, Adam J. Weisbrod, Carrie A. Strand, Jacob B. Allred, Alysha N. Newsom, Lianwen Zhang, Nandakumar Packiriswamy, Timothy Kottke, Jason M. Tonne, Madelyn Moore, Heather N. Montane, Lisa A. Kottschade, Robert R. McWilliams, Arkadiusz Z. Dudek, Yiyi Yan, Anastasios Dimou, Svetomir N. Markovic, Mark J. Federspiel, Richard G. Vile, Roxana S. Dronca, Matthew S. Block

Front Immunol. 2023; 14: 1279387. Published online 2023 Oct 31. doi: 10.3389/fimmu.2023.1279387

PMCID:: PMC10644866

Abstract Article PDF–1.5M

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