GSE214547 Multiplex Epigenome Editing of MECP2 to Rescue Rett Syndrome Neurons (ChIP-Seq)
Contributors : Xiaonan Guan ; Rudolf Jaenisch ; X S LiuSeries Type : Genome binding/occupancy profiling by high throughput sequencingOrganism : Homo sapiensRett syndrome (RTT) is an X-linked neurodevelopmental disorder caused by loss-of-function heterozygous mutations of MECP2. Reactivation of the silent wild-type MECP2 allele on the inactive X chromosome (Xi) represents a promising therapeutic opportunity for female RTT patients. Here, we applied a multiplex epigenome editing approach to reactivate MECP2 on Xi. Demethylation of the MECP2 promoter by dCas9-Tet1 with target sgRNA reactivated MECP2 on Xi in RTT hESCs witho...
Source: GEO: Gene Expression Omnibus - September 1, 2023 Category: Genetics & Stem Cells Tags: Genome binding/occupancy profiling by high throughput sequencing Homo sapiens Source Type: research
Genes, Vol. 14, Pages 1607: Multidisciplinary Management of Rett Syndrome: Twenty Years & rsquo; Experience
This study provides a comprehensive review of the clinical features, comorbidities and multidisciplinary management of a well-characterized cohort of females with classical Rett syndrome. We aim to improve awareness and understanding of Rett syndrome amongst pediatricians, pediatric subspecialists and allied health professionals to enable early diagnosis and a streamlined enrolment approach for future clinical trials. Rett syndrome, a complex X-linked condition, affecting mainly females, is due to pathogenic variants of the MECP2 gene in most affected individuals. The Rett syndrome Multidisciplinary Management clinic at Th...
Source: Genes - August 11, 2023 Category: Genetics & Stem Cells Authors: Sandra Vilvarajan Madeleine McDonald Lyndal Douglas Jessica Newham Robyn Kirkland Gloria Tzannes Diane Tay John Christodoulou Susan Thompson Carolyn Ellaway Tags: Article Source Type: research
Genetic etiology of progressive pediatric neurological disorders
CONCLUSIONS: The most common cause of childhood encephalopathies are de novo variants. Whole-exome sequencing, even singleton, proved to be an efficient tool to gain specific diagnoses and in finding de novo variants in a clinically heterogeneous group of childhood encephalopathies.IMPACT: Whole-exome sequencing is useful in heterogeneous pediatric neurology cohorts. Our article provides further evidence for and novel variants in several genes. De novo variants are an important cause of childhood encephalopathies.PMID:37563452 | DOI:10.1038/s41390-023-02767-z (Source: Pediatric Research)
Source: Pediatric Research - August 10, 2023 Category: Pediatrics Authors: Juho Aaltio Anna Etula Simo Ojanen Virginia Brilhante Tuula L önnqvist Pirjo Isohanni Anu Suomalainen Source Type: research
Genetic etiology of progressive pediatric neurological disorders
CONCLUSIONS: The most common cause of childhood encephalopathies are de novo variants. Whole-exome sequencing, even singleton, proved to be an efficient tool to gain specific diagnoses and in finding de novo variants in a clinically heterogeneous group of childhood encephalopathies.IMPACT: Whole-exome sequencing is useful in heterogeneous pediatric neurology cohorts. Our article provides further evidence for and novel variants in several genes. De novo variants are an important cause of childhood encephalopathies.PMID:37563452 | DOI:10.1038/s41390-023-02767-z (Source: Pediatric Research)
Source: Pediatric Research - August 10, 2023 Category: Pediatrics Authors: Juho Aaltio Anna Etula Simo Ojanen Virginia Brilhante Tuula L önnqvist Pirjo Isohanni Anu Suomalainen Source Type: research
A female patient with adolescent-onset progressive myoclonus epilepsy carrying a truncating MECP2 mutation
MECP2 is a well-known causative gene for Rett syndrome but other phenotypes have also been reported. Here, we report a case of a female patient with adolescent-onset progressive myoclonus epilepsy (PME) carrying a novel truncating mutation in the MECP2 gene. (Source: Brain and Development)
Source: Brain and Development - August 5, 2023 Category: Neurology Authors: Mari Akiyama, Tomoyuki Akiyama, Hirotomo Saitsu, Yukie Tokioka, Rie Tsukahara, Hiroki Tsuchiya, Takashi Shibata, Katsuhiro Kobayashi Tags: Case Report Source Type: research
Validation of the Observer-Reported Communication Ability (ORCA) measure for individuals with Rett syndrome
CONCLUSIONS: This study provided initial support that the modified ORCA measure is an acceptable caregiver-reported measure of communication ability for females with RTT. Future work should include evaluation of longitudinal validity of the measure and its associations with clinician- and performance-based measures in diverse samples.PMID:37536121 | DOI:10.1016/j.ejpn.2023.07.007 (Source: European Journal of Paediatric Neurology)
Source: European Journal of Paediatric Neurology - August 3, 2023 Category: Neurology Authors: Bryce B Reeve Nicole Lucas Dandan Chen Molly McFatrich Harrison N Jones Kelly L Gordon Leslie Zapata Leiva Li Lin Monica Coenraads Jana von Hehn Randall L Carpenter Eric D Marsh Christina K Zigler Source Type: research
Validation of the Observer-Reported Communication Ability (ORCA) measure for individuals with Rett syndrome
CONCLUSIONS: This study provided initial support that the modified ORCA measure is an acceptable caregiver-reported measure of communication ability for females with RTT. Future work should include evaluation of longitudinal validity of the measure and its associations with clinician- and performance-based measures in diverse samples.PMID:37536121 | DOI:10.1016/j.ejpn.2023.07.007 (Source: European Journal of Paediatric Neurology)
Source: European Journal of Paediatric Neurology - August 3, 2023 Category: Neurology Authors: Bryce B Reeve Nicole Lucas Dandan Chen Molly McFatrich Harrison N Jones Kelly L Gordon Leslie Zapata Leiva Li Lin Monica Coenraads Jana von Hehn Randall L Carpenter Eric D Marsh Christina K Zigler Source Type: research
An insertion mutation of the MECP2 gene in severe neonatal encephalopathy and ocular and oropharyngeal dyskinesia: a case report
Pathogenic variation of the MECP2 gene presents mostly as Rett syndrome in females and is extremely rare in males. Most male patients with MECP2 gene mutation show MECP2 duplication syndrome. (Source: BMC Medical Genomics)
Source: BMC Medical Genomics - August 3, 2023 Category: Genetics & Stem Cells Authors: Jianmin Liang, Cuijuan Xin, Meiying Xin, Guangliang Wang and Xuemei Wu Tags: Case Report Source Type: research
Updated systematic-narrative review on communication intervention in Rett Syndrome: 2010-2022
Augment Altern Commun. 2023 Aug 1:1-15. doi: 10.1080/07434618.2023.2215864. Online ahead of print.ABSTRACTDue to loss of spoken language and resulting complex communication needs, people with Rett syndrome are obvious candidates for communication intervention. To advance evidence-based practice and guide future research efforts, we identified and summarized 16 communication intervention studies published since a previous 2009 review on this topic. Studies were summarized in terms of (a) participants, (b) dependent variables related to communication, (c) intervention characteristics, (d) outcomes, and (e) certainty of evide...
Source: Augmentative and Alternative Communication - August 1, 2023 Category: Speech-Language Pathology Authors: Jeff Sigafoos Laura Roche Mark F O'Reilly Giulio E Lancioni Peter B Marschik Source Type: research
Updated systematic-narrative review on communication intervention in Rett Syndrome: 2010-2022
Augment Altern Commun. 2023 Aug 1:1-15. doi: 10.1080/07434618.2023.2215864. Online ahead of print.ABSTRACTDue to loss of spoken language and resulting complex communication needs, people with Rett syndrome are obvious candidates for communication intervention. To advance evidence-based practice and guide future research efforts, we identified and summarized 16 communication intervention studies published since a previous 2009 review on this topic. Studies were summarized in terms of (a) participants, (b) dependent variables related to communication, (c) intervention characteristics, (d) outcomes, and (e) certainty of evide...
Source: Augmentative and Alternative Communication - August 1, 2023 Category: Speech-Language Pathology Authors: Jeff Sigafoos Laura Roche Mark F O'Reilly Giulio E Lancioni Peter B Marschik Source Type: research
Updated systematic-narrative review on communication intervention in Rett Syndrome: 2010-2022
Augment Altern Commun. 2023 Aug 1:1-15. doi: 10.1080/07434618.2023.2215864. Online ahead of print.ABSTRACTDue to loss of spoken language and resulting complex communication needs, people with Rett syndrome are obvious candidates for communication intervention. To advance evidence-based practice and guide future research efforts, we identified and summarized 16 communication intervention studies published since a previous 2009 review on this topic. Studies were summarized in terms of (a) participants, (b) dependent variables related to communication, (c) intervention characteristics, (d) outcomes, and (e) certainty of evide...
Source: Augmentative and Alternative Communication - August 1, 2023 Category: Speech-Language Pathology Authors: Jeff Sigafoos Laura Roche Mark F O'Reilly Giulio E Lancioni Peter B Marschik Source Type: research
microRNA-382 as a tumor suppressor? Roles in tumorigenesis and clinical significance
Int J Biol Macromol. 2023 Jul 17:125863. doi: 10.1016/j.ijbiomac.2023.125863. Online ahead of print.ABSTRACTMicroRNAs (miRNAs) are small single-stranded RNAs belonging to a class of non-coding RNAs with an average length of 18-22 nucleotides. Although not able to encode any protein, miRNAs are vastly studied and found to play role in various human physiologic as well as pathological conditions. A huge number of miRNAs have been identified in human cells whose expression is straightly regulated with crucial biological functions, while this number is constantly increasing. miRNAs are particularly studied in cancers, where th...
Source: International Journal of Biological Macromolecules - July 19, 2023 Category: Biochemistry Authors: Mehdi Fattahi Saeid Shahrabi Fatemeh Saadatpour Delsuz Rezaee Zahra Beyglu Sana Delavari Anita Amrolahi Shirin Ahmadi Saeid Bagheri-Mohammadi Effat Noori Jamal Majidpoor Shadi Nouri Seyed Mohsen Aghaei-Zarch Shahab Falahi Sajad Najafi Binh Nguyen Le Source Type: research
microRNA-382 as a tumor suppressor? Roles in tumorigenesis and clinical significance
Int J Biol Macromol. 2023 Jul 17:125863. doi: 10.1016/j.ijbiomac.2023.125863. Online ahead of print.ABSTRACTMicroRNAs (miRNAs) are small single-stranded RNAs belonging to a class of non-coding RNAs with an average length of 18-22 nucleotides. Although not able to encode any protein, miRNAs are vastly studied and found to play role in various human physiologic as well as pathological conditions. A huge number of miRNAs have been identified in human cells whose expression is straightly regulated with crucial biological functions, while this number is constantly increasing. miRNAs are particularly studied in cancers, where th...
Source: International Journal of Biological Macromolecules - July 19, 2023 Category: Biochemistry Authors: Mehdi Fattahi Saeid Shahrabi Fatemeh Saadatpour Delsuz Rezaee Zahra Beyglu Sana Delavari Anita Amrolahi Shirin Ahmadi Saeid Bagheri-Mohammadi Effat Noori Jamal Majidpoor Shadi Nouri Seyed Mohsen Aghaei-Zarch Shahab Falahi Sajad Najafi Binh Nguyen Le Source Type: research
Ox-inflammasome involvement in neuroinflammation
Free Radic Biol Med. 2023 Jul 11:S0891-5849(23)00528-2. doi: 10.1016/j.freeradbiomed.2023.07.010. Online ahead of print.ABSTRACTNeuroinflammation plays a crucial role in the onset and the progression of several neuropathologies, from neurodegenerative disorders to migraine, from Rett syndrome to post-COVID 19 neurological manifestations. Inflammasomes are cytosolic multiprotein complexes of the innate immune system that fuel inflammation. They have been under study for the last twenty years and more recently their involvement in neuro-related conditions has been of great interest as possible therapeutic target. The role of...
Source: Free Radical Biology and Medicine - July 13, 2023 Category: Biology Authors: Andrea Vallese Valeria Cordone Alessandra Pecorelli Giuseppe Valacchi Source Type: research
Down syndrome or Rett syndrome in the family: Parental reflections on sibling experience
. (Source: Journal of Intellectual and Developmental Disability)
Source: Journal of Intellectual and Developmental Disability - July 13, 2023 Category: Disability Authors: Caitlin Gray Helen Leonard Kingsley Wong Sally Reed Kate Schmidt Rachel Skoss Jianghong Li Alison Salt Jenny Bourke Emma J. Glasson Source Type: research
