Genetic Mutation Causing Mental Retardation Very Similar To Angelman Syndrome Found In Amish Community

Researchers from the research group in growth factors and cell differentiation at IDIBELL and the University of Barcelona (UB) have participated in an international study that has identified the genetic cause of developmental delay observed in Amish individuals in the USA. The research results have been published in the Journal of Medical Genetics. Amish community Amish is a religious community known for a simple and traditional style of life and for its reluctance to adopt modern amenities and technologies...
Source: Health News from Medical News Today - Category: Consumer Health News Tags: Genetics Source Type: news

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Authors: Zhou Q, Yu Q, Gong Y, Liu Z, Xu H, Wang Y, Shi Y Abstract Psoriasis is a chronic inflammatory skin disorder that impairs the quality of life of affected patients. Emerging studies indicate that certain long non-coding RNAs (lncRNAs) have important roles in psoriasis. However, the exact functions of lncRNAs and their regulatory mechanisms as competitive endogenous RNAs (ceRNAs) in psoriasis have remained to be fully elucidated. In the present study, differentially expressed lncRNAs, microRNAs (miRNAs) and mRNAs were identified by analyzing public datasets, and a psoriasis-associated lncRNA-miRNA-mRNA networ...
Source: Experimental and Therapeutic Medicine - Category: General Medicine Tags: Exp Ther Med Source Type: research
ConclusionsBehaviours which may be characteristic of PTHS include those associated with ASD, including deficits in social communication and reciprocal social interaction. High rates of aggression and self-injurious behaviour compared to other genetic syndrome groups are of potential clinical significance and warrant further investigation. An atypical sensory profile may also be evident in PTHS. The specific aetiology of and relationships between different behavioural and psychological atypicalities in PTHS, and effective clinical management of these, present potential topics for future research.
Source: Journal of Neurodevelopmental Disorders - Category: Neurology Source Type: research
Authors: Campero L Abstract Angelman syndrome (AS) is a rare neurogenetic disorder that results from an abnormality of the maternal chromosome 15. Clinical presentations for AS include developmental delays, seizure disorders, ataxia, truncal hypotonia, scoliosis, structural cardiac abnormalities, hyperactive tendon reflexes, absent speech, and craniofacial anomalies. Patients with AS also may have vagal hypertonia, which can result in refractory bradycardia in the perioperative setting. Mutations of chromosome 15 can lead to abnormalities in γ-aminobutyric acid A (GABAA) receptors, through which numerous anes...
Source: Journal of Studies on Alcohol and Drugs - Category: Addiction Tags: J Stud Alcohol Drugs Source Type: research
Condition:   Primary Disease or Condition Being Studied: Angelman Syndrome (AS) Interventions:   Drug: Gaboxadol;   Drug: Placebo Sponsor:   Ovid Therapeutics Inc. Recruiting
Source: ClinicalTrials.gov - Category: Research Source Type: clinical trials
Condition:   Primary Disease or Condition Being Studied: Angelman Syndrome (AS) Intervention:   Drug: Gaboxadol Sponsor:   Ovid Therapeutics Inc. Recruiting
Source: ClinicalTrials.gov - Category: Research Source Type: clinical trials
Condition:   Primary Disease or Condition Being Studied: Angelman Syndrome (AS) Interventions:   Drug: Gaboxadol;   Drug: Placebo Sponsor:   Ovid Therapeutics Inc. Recruiting
Source: ClinicalTrials.gov - Category: Research Source Type: clinical trials
Condition:   Primary Disease or Condition Being Studied: Angelman Syndrome (AS) Intervention:   Drug: Gaboxadol Sponsor:   Ovid Therapeutics Inc. Recruiting
Source: ClinicalTrials.gov - Category: Research Source Type: clinical trials
Condition:   Primary Disease or Condition Being Studied: Angelman Syndrome (AS) Interventions:   Drug: Gaboxadol;   Drug: Placebo Sponsor:   Ovid Therapeutics Inc. Recruiting
Source: ClinicalTrials.gov - Category: Research Source Type: clinical trials
Condition:   Primary Disease or Condition Being Studied: Angelman Syndrome (AS) Intervention:   Drug: Gaboxadol Sponsor:   Ovid Therapeutics Inc. Recruiting
Source: ClinicalTrials.gov - Category: Research Source Type: clinical trials
Condition:   Primary Disease or Condition Being Studied: Angelman Syndrome (AS) Interventions:   Drug: Gaboxadol;   Drug: Placebo Sponsor:   Ovid Therapeutics Inc. Recruiting
Source: ClinicalTrials.gov - Category: Research Source Type: clinical trials
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