| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Tess Levy, J Lloyd Holder, Joseph P Horrigan, Michael F Snape, Alison McMorn, Christina Layton, Hailey Silver, Kate Friedman, Hannah Grosman, Slayton Underwood, Danielle Halpern, Jessica Zweifach, Paige M Siper, Alexander Kolevzo. An open-label study evaluating the safety and efficacy of AMO-01 for the treatment of seizures in Phelan-McDermid syndrome. HGG advances. 2024-12-18. PMID:39690738. |
phelan-mcdermid syndrome (pms) is a neurodevelopmental disorder caused by haploinsufficiency of the shank3 gene. |
2024-12-18 |
2024-12-21 |
Not clear |
| Rui Yin, Maxime Wack, Claire Hassen-Khodja, Michael T McDuffie, Geraldine Bliss, Elizabeth J Horn, Cartik Kothari, Brittany McLarney, Rebecca Davis, Kristen Hanson, Megan O'Boyle, Catalina Betancur, Paul Avillac. Phenome-wide profiling identifies genotype-phenotype associations in Phelan-McDermid syndrome using family-sourced data from an international registry. Molecular autism. vol 15. issue 1. 2024-10-01. PMID:39350236. |
phelan-mcdermid syndrome (pms) is a rare neurodevelopmental disorder caused by 22q13 deletions that include the shank3 gene or pathogenic sequence variants in shank3. |
2024-10-01 |
2024-10-03 |
Not clear |
| Jake Gluckman, Tess Levy, Kate Friedman, Francesca Garces, Rajna Filip-Dhima, Aisling Quinlan, Isabelle Iannotti, Margaret Pekar, Alexandra Lopez Hernandez, Madison T Nava, Elijah Kravets, Abigail Siegel, Jonathan A Bernstein, Elizabeth Berry-Kravis, Craig M Powell, Latha Valluripalli Soorya, Audrey Thurm, Siddharth Srivastava, Joseph D Buxbaum, Mustafa Sahin, Alexander Kolevzon, Bruce D Gel. Aortic Root Dilation and Genotype Associations in Phelan-McDermid Syndrome. American journal of medical genetics. Part A. 2024-09-11. PMID:39257296. |
phelan-mcdermid syndrome (pms) is a rare genetic neurodevelopmental disorder that results from the loss of one functional copy of the shank3 gene. |
2024-09-11 |
2024-09-13 |
human |
| Roger Esmel-Vilomara, Lucy Dougherty-De Miguel, Alícia Artigas-Baleri, Eulàlia Turón-Viñas, Ivon Cuscó, Asunción Díaz-Gómez, Luisa Panadés-De Oliveira, Rodrigo Rocamora, Susana Borona. Cardiovascular abnormalities in patients with SHANK3 pathogenic variants: beyond neurodevelopmental disorders and epilepsy. European journal of medical genetics. 2024-08-02. PMID:39094681. |
this study aims to provide insights into the cardiovascular profile of patients with pathogenic shank3 variants, expanding beyond the well-established associations with neurodevelopmental disorders and epilepsy. |
2024-08-02 |
2024-08-06 |
Not clear |
| Roger Esmel-Vilomara, Lucy Dougherty-De Miguel, Alícia Artigas-Baleri, Eulàlia Turón-Viñas, Ivon Cuscó, Asunción Díaz-Gómez, Luisa Panadés-De Oliveira, Rodrigo Rocamora, Susana Borona. Cardiovascular abnormalities in patients with SHANK3 pathogenic variants: beyond neurodevelopmental disorders and epilepsy. European journal of medical genetics. 2024-08-02. PMID:39094681. |
cardiovascular abnormalities in patients with shank3 pathogenic variants: beyond neurodevelopmental disorders and epilepsy. |
2024-08-02 |
2024-08-06 |
Not clear |
| Roger Esmel-Vilomara, Lucy Dougherty-De Miguel, Alícia Artigas-Baleri, Eulàlia Turón-Viñas, Ivon Cuscó, Asunción Díaz-Gómez, Luisa Panadés-De Oliveira, Rodrigo Rocamora, Susana Borona. Cardiovascular abnormalities in patients with SHANK3 pathogenic variants: beyond neurodevelopmental disorders and epilepsy. European journal of medical genetics. 2024-08-02. PMID:39094681. |
neurodevelopmental disorders have been linked to numerous genes, particularly pathogenic variants in genes encoding postsynaptic scaffolding proteins, like shank3. |
2024-08-02 |
2024-08-06 |
Not clear |
| Roger Esmel-Vilomara, Lucy Dougherty-De Miguel, Alícia Artigas-Baleri, Eulàlia Turón-Viñas, Ivon Cuscó, Asunción Díaz-Gómez, Luisa Panadés-De Oliveira, Rodrigo Rocamora, Susana Borona. Cardiovascular abnormalities in patients with SHANK3 pathogenic variants: beyond neurodevelopmental disorders and epilepsy. European journal of medical genetics. 2024-08-02. PMID:39094681. |
we conducted a prospective study involving patients affected by neurodevelopmental disorders with pathogenic shank3 variants. |
2024-08-02 |
2024-08-06 |
Not clear |
| Tess Levy, Jacob Gluckman, Paige M Siper, Danielle Halpern, Jessica Zweifach, Rajna Filip-Dhima, J Lloyd Holder, M Pilar Trelles, Kristina Johnson, Jonathan A Bernstein, Elizabeth Berry-Kravis, Craig M Powell, Latha Valluripalli Soorya, Audrey Thurm, Joseph D Buxbaum, Mustafa Sahin, Alexander Kolevzon, Siddharth Srivastav. Clinical, genetic, and cognitive correlates of seizure occurrences in Phelan-McDermid syndrome. Journal of neurodevelopmental disorders. vol 16. issue 1. 2024-05-10. PMID:38730350. |
phelan-mcdermid syndrome (pms) is a genetic neurodevelopmental disorder caused by shank3 haploinsufficiency and is associated with an increased risk for seizures. |
2024-05-10 |
2024-05-27 |
Not clear |
| Luciana Gizzo, Geraldine Bliss, Chrystal Palaty, Alexander Kolevzo. Caregiver perspectives on patient-focused drug development for Phelan-McDermid syndrome. Orphanet journal of rare diseases. vol 19. issue 1. 2024-03-27. PMID:38532502. |
phelan-mcdermid syndrome (pms) is a neurodevelopmental disorder caused by shank3 haploinsufficiency with clinical manifestations that can be devastating and profoundly affect quality of life. |
2024-03-27 |
2024-03-29 |
Not clear |
| Elisa Granocchio, Eleonora Pollina, Marinella De Salvatore, Maria R Scopelliti, Giorgia Tanzi, Francesca L Sciacca, Stefano D'Arrigo, Claudia Ciacci. 22q13.33 duplication involving SHANK3 gene: a boy and his mother with "persistent" language and speech sound disorder. Psychiatric genetics. 2023-12-12. PMID:38084626. |
among these, patients with genetic alteration disrupting shank3 gene are very rare and they also present neurodevelopmental disorder such as autism spectrum disorder and intellectual disability. |
2023-12-12 |
2023-12-17 |
Not clear |
| Jessica Pagano, Silvia Landi, Alessia Stefanoni, Gabriele Nardi, Marica Albanesi, Helen F Bauer, Enrico Pracucci, Michael Schön, Gian Michele Ratto, Tobias M Boeckers, Carlo Sala, Chiara Verpell. Shank3 deletion in PV neurons is associated with abnormal behaviors and neuronal functions that are rescued by increasing GABAergic signaling. Molecular autism. vol 14. issue 1. 2023-08-01. PMID:37528484. |
phelan-mcdermid syndrome (pms) is a neurodevelopmental disorder characterized by developmental delay, intellectual disability, and autistic-like behaviors and is primarily caused by haploinsufficiency of shank3 gene. |
2023-08-01 |
2023-08-14 |
Not clear |
| Sylvia A Koza, Anne C Tabet, Maria C Bonaglia, Stephanie Andres, Britt-Marie Anderlid, Emmelien Aten, Dominique Stiefsoh. Consensus recommendations on counselling in Phelan-McDermid syndrome, with special attention to recurrence risk and to ring chromosome 22. European journal of medical genetics. 2023-04-29. PMID:37120077. |
this paper focuses on genetic counselling in phelan-mcdermid syndrome (pms), a rare neurodevelopmental disorder caused by a deletion 22q13.3 or a pathogenic variant in shank3. |
2023-04-29 |
2023-08-14 |
Not clear |
| Robert J Damstra, Stéphane Vignes, Sahar Mansou. Consensus recommendations on lymphedema in Phelan-McDermid syndrome. European journal of medical genetics. 2023-04-19. PMID:37075886. |
phelan-mcdermid syndrome (pms) is a neurodevelopmental disorder caused by deletions 22q13.3 or pathogenic variants in the shank3 gene. |
2023-04-19 |
2023-08-14 |
Not clear |
| Mathieu Thabault, Valentine Turpin, Éric Balado, Cloé Fernandes-Gomes, Anne-Lise Huot, Anne Cantereau, Pierre-Olivier Fernagut, Mohamed Jaber, Laurie Galva. Age-related behavioral and striatal dysfunctions in Shank3 The European journal of neuroscience. 2023-01-19. PMID:36656446. |
age-related behavioral and striatal dysfunctions in shank3 autism spectrum disorders (asd) are defined as a set of neurodevelopmental disorders and a lifelong condition. |
2023-01-19 |
2023-08-14 |
mouse |
| Taesun Yoo, Ye-Eun Yoo, Hyojin Kang, Eunjoon Ki. Age, brain region, and gene dosage-differential transcriptomic changes in Frontiers in molecular neuroscience. vol 15. 2022-10-31. PMID:36311023. |
age, brain region, and gene dosage-differential transcriptomic changes in shank3 is an abundant excitatory postsynaptic scaffolding protein implicated in various neurodevelopmental disorders, including autism spectrum disorder (asd), phelan-mcdermid syndrome, intellectual disability, and schizophrenia. |
2022-10-31 |
2023-08-14 |
Not clear |
| Michael S Breen, Xuanjia Fan, Tess Levy, Rebecca M Pollak, Brett Collins, Aya Osman, Anna S Tocheva, Mustafa Sahin, Elizabeth Berry-Kravis, Latha Soorya, Audrey Thurm, Craig M Powell, Jonathan A Bernstein, Alexander Kolevzon, Joseph D Buxbau. Large 22q13.3 deletions perturb peripheral transcriptomic and metabolomic profiles in Phelan-McDermid syndrome. HGG advances. vol 4. issue 1. 2022-10-24. PMID:36276299. |
phelan-mcdermid syndrome (pms) is a rare neurodevelopmental disorder caused at least in part by haploinsufficiency of the shank3 gene, due to sequence variants in shank3 or subtelomeric 22q13.3 deletions. |
2022-10-24 |
2023-08-14 |
human |
| Daniel Woike, Emily Wang, Debora Tibbe, Fatemeh Hassani Nia, Antonio Virgilio Failla, Maria Kibæk, Tinett Martesen Overgård, Martin J Larsen, Christina R Fagerberg, Igor Barsukov, Hans-Jürgen Kreienkam. Mutations affecting the N-terminal domains of SHANK3 point to different pathomechanisms in neurodevelopmental disorders. Scientific reports. vol 12. issue 1. 2022-01-19. PMID:35042901. |
mutations affecting the n-terminal domains of shank3 point to different pathomechanisms in neurodevelopmental disorders. |
2022-01-19 |
2023-08-13 |
Not clear |
| Stanislava Bukatova, Emese Renczes, Alexandra Reichova, Johan Filo, Anna Sadlonova, Boris Mravec, Daniela Ostatnikova, Jan Bakos, Zuzana Bacov. Shank3 Deficiency is Associated With Altered Profile of Neurotransmission Markers in Pups and Adult Mice. Neurochemical research. vol 46. issue 12. 2021-10-21. PMID:34453663. |
sh3 and multiple ankyrin repeat domains 3 (shank3) deficient mice represent a well-established transgenic model of a neurodevelopmental disorder with autistic symptomatology. |
2021-10-21 |
2023-08-13 |
mouse |
| Farhan Ali, Ling-Xiao Shao, Danielle M Gerhard, Katherine Sweasy, Santosh Pothula, Christopher Pittenger, Ronald S Duman, Alex C Kwa. Inhibitory regulation of calcium transients in prefrontal dendritic spines is compromised by a nonsense Shank3 mutation. Molecular psychiatry. vol 26. issue 6. 2021-10-11. PMID:32161363. |
the shank3 gene encodes a postsynaptic scaffold protein in excitatory synapses, and its disruption is implicated in neurodevelopmental disorders such as phelan-mcdermid syndrome, autism spectrum disorder, and schizophrenia. |
2021-10-11 |
2023-08-13 |
mouse |
| J Fastman, J Foss-Feig, Y Frank, D Halpern, H Harony-Nicolas, C Layton, S Sandin, P Siper, L Tang, P Trelles, J Zweifach, J D Buxbaum, A Kolevzo. A randomized controlled trial of intranasal oxytocin in Phelan-McDermid syndrome. Molecular autism. vol 12. issue 1. 2021-10-05. PMID:34593045. |
phelan-mcdermid syndrome (pms) is a rare neurodevelopmental disorder caused by haploinsufficiency of the shank3 gene and characterized by global developmental delays, deficits in speech and motor function, and autism spectrum disorder (asd). |
2021-10-05 |
2023-08-13 |
rat |