Literature DB >> 28111752

Association of the missense variant p.Arg203Trp in PACS1 as a cause of intellectual disability and seizures.

D Stern1, M T Cho2, R Chikarmane2, R Willaert2, K Retterer2, F Kendall3,4, M Deardorff5, S Hopkins6, E Bedoukian7, A Slavotinek8, S Schrier Vergano9, B Spangler9, M McDonald10, A McConkie-Rosell10, B K Burton11, K H Kim11, N Oundjian12, D Kronn13, N Chandy13, B Baskin2, M J Guillen Sacoto2, I M Wentzensen2, H M McLaughlin2, D McKnight2, W K Chung1,14.   

Abstract

Graphical abstract key: ADHD, attention deficit hyperactivity disorder; ASD, atrial septal defect; DD, developmental delay; EEG, electroencephalogram; Ht, height; ID, intellectual disability; OCD, obsessive-compulsive disorder; OFC, open fontanelle; PDA, patent ductus arteriosis; PFO, patent foramen ovale; VSD, ventricular septal defect; Wt, weight.
© 2017 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

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Year:  2017        PMID： 28111752      PMCID： PMC5513756          DOI： 10.1111/cge.12956

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


  5 in total

1.  The phosphorylation state of an autoregulatory domain controls PACS-1-directed protein traffic.

Authors:  Gregory K Scott; Feng Gu; Colin M Crump; Laurel Thomas; Lei Wan; Yang Xiang; Gary Thomas
Journal:  EMBO J       Date:  2003-12-01       Impact factor: 11.598

2.  Clinical delineation of the PACS1-related syndrome--Report on 19 patients.

Authors:  Janneke H M Schuurs-Hoeijmakers; Megan L Landsverk; Nicola Foulds; Mary K Kukolich; Ralitza H Gavrilova; Stephanie Greville-Heygate; Andrea Hanson-Kahn; Jonathan A Bernstein; Jennifer Glass; David Chitayat; Thomas A Burrow; Ammar Husami; Kathleen Collins; Katie Wusik; Nathalie van der Aa; Frank Kooy; Kate Tatton Brown; Dorothea Gadzicki; Usha Kini; Sara Alvarez; Alberto Fernández-Jaén; Frank McGehee; Katherine Selby; Maja Tarailo-Graovac; Margot Van Allen; Clara D M van Karnebeek; Dimitri J Stavropoulos; Christian R Marshall; Daniele Merico; Anne Gregor; Christiane Zweier; Robert J Hopkin; Yoyo Wing-Yiu Chu; Brian Hon-Yin Chung; Bert B A de Vries; Koenraad Devriendt; Matthew E Hurles; Han G Brunner
Journal:  Am J Med Genet A       Date:  2016-02-03       Impact factor: 2.802

3.  PACS-1 defines a novel gene family of cytosolic sorting proteins required for trans-Golgi network localization.

Authors:  L Wan; S S Molloy; L Thomas; G Liu; Y Xiang; S L Rybak; G Thomas
Journal:  Cell       Date:  1998-07-24       Impact factor: 41.582

4.  Expanding the phenotype of a recurrent de novo variant in PACS1 causing intellectual disability.

Authors:  D Gadzicki; D Döcker; M Schubach; M Menzel; B Schmorl; F Stellmer; S Biskup; D Bartholdi
Journal:  Clin Genet       Date:  2014-12-18       Impact factor: 4.438

5.  Recurrent de novo mutations in PACS1 cause defective cranial-neural-crest migration and define a recognizable intellectual-disability syndrome.

Authors:  Janneke H M Schuurs-Hoeijmakers; Edwin C Oh; Lisenka E L M Vissers; Mariëlle E M Swinkels; Christian Gilissen; Michèl A Willemsen; Maureen Holvoet; Marloes Steehouwer; Joris A Veltman; Bert B A de Vries; Hans van Bokhoven; Arjan P M de Brouwer; Nicholas Katsanis; Koenraad Devriendt; Han G Brunner
Journal:  Am J Hum Genet       Date:  2012-11-15       Impact factor: 11.025
  5 in total
  6 in total

Review 1.  Caught in the act - protein adaptation and the expanding roles of the PACS proteins in tissue homeostasis and disease.

Authors:  Gary Thomas; Joseph E Aslan; Laurel Thomas; Pushkar Shinde; Ujwal Shinde; Thomas Simmen
Journal:  J Cell Sci       Date:  2017-05-05       Impact factor: 5.285

Review 2.  Vesicle trafficking with snares: a perspective for autism.

Authors:  Çilem Özdemir; Nilfer Şahin; Tuba Edgünlü
Journal:  Mol Biol Rep       Date:  2022-10-05       Impact factor: 2.742

Review 3.  A perspective on molecular signalling dysfunction, its clinical relevance and therapeutics in autism spectrum disorder.

Authors:  Sushmitha S Purushotham; Neeharika M N Reddy; Michelle Ninochka D'Souza; Nilpawan Roy Choudhury; Anusa Ganguly; Niharika Gopalakrishna; Ravi Muddashetty; James P Clement
Journal:  Exp Brain Res       Date:  2022-09-05       Impact factor: 2.064

Review 4.  Genetic Causes and Modifiers of Autism Spectrum Disorder.

Authors:  Lauren Rylaarsdam; Alicia Guemez-Gamboa
Journal:  Front Cell Neurosci       Date:  2019-08-20       Impact factor: 5.505

Review 5.  Molecular Basis of the Schuurs-Hoeijmakers Syndrome: What We Know about the Gene and the PACS-1 Protein and Novel Therapeutic Approaches.

Authors:  María Arnedo; Ángela Ascaso; Ana Latorre-Pellicer; Cristina Lucia-Campos; Marta Gil-Salvador; Ariadna Ayerza-Casas; María Jesús Pablo; Paulino Gómez-Puertas; Feliciano J Ramos; Gloria Bueno-Lozano; Juan Pié; Beatriz Puisac
Journal:  Int J Mol Sci       Date:  2022-08-25       Impact factor: 6.208

6.  Schuurs-Hoeijmakers Syndrome (PACS1 Neurodevelopmental Disorder): Seven Novel Patients and a Review.

Authors:  Jair Tenorio-Castaño; Beatriz Morte; Julián Nevado; Víctor Martinez-Glez; Fernando Santos-Simarro; Sixto García-Miñaúr; María Palomares-Bralo; Marta Pacio-Míguez; Beatriz Gómez; Pedro Arias; Alba Alcochea; Juan Carrión; Patricia Arias; Berta Almoguera; Fermina López-Grondona; Isabel Lorda-Sanchez; Enrique Galán-Gómez; Irene Valenzuela; María Pilar Méndez Perez; Ivón Cuscó; Francisco Barros; Juan Pié; Sergio Ramos; Feliciano J Ramos; Alma Kuechler; Eduardo Tizzano; Carmen Ayuso; Frank J Kaiser; Luis A Pérez-Jurado; Ángel Carracedo; Pablo Lapunzina
Journal:  Genes (Basel)       Date:  2021-05-13       Impact factor: 4.096
  6 in total

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