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PubMed Journals Articles About "Experimental Agent Offers First Hope Rare Genetic Disorder" RSS

23:16 EST 17th February 2020 | BioPortfolio

Experimental Agent Offers First Hope Rare Genetic Disorder PubMed articles on BioPortfolio. Our PubMed references draw on over 21 million records from the medical literature. Here you can see the latest Experimental Agent Offers First Hope Rare Genetic Disorder articles that have been published worldwide.

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Showing "Experimental Agent Offers First Hope Rare Genetic Disorder" PubMed Articles 1–25 of 29,000+

A linkage and exome study implicates rare variants of KANK4 and CAP2 in bipolar disorder in a multiplex family.

Bipolar disorder (BPD) is a neuropsychiatric disorder with a complex pattern of inheritance. Although many genetic studies have been conducted on BPD, its genetic correlates remain uncertain. This study aimed to identify the genetic cause of the disorder in an Indian family, which is comprehensively evaluated clinically and is under follow-up for over 12 years.


Is There a Problem With False Hope?

This article offers a general discussion of the concept of false hope. Its ultimate aim is to clarify the meaning and the relevance of that concept for medicine and medical research. In the first part (Sections I-V), the concept of hope is discussed. I argue that hope is more than a combination of a desire and a belief about the probability that the desire will be fulfilled. Imagination and anticipation are as well components of hope. I also discuss if hope implies orientation to action. In the second part ...

Face processing and exploration of social signals in Prader-Willi syndrome: a genetic signature.

Faces are critical social cues that must be perfectly processed in order to engage appropriately in everyday social interactions. In Prader-Willi Syndrome (PWS), a rare genetic disorder characterized by cognitive and behavioural difficulties including autism spectrum disorder, the literature referring to face processing is sparse. Given reports of poor social interactions in individuals with PWS, we sought to assess their face and emotion recognition skills during eyetracking recordings.


Expanding the Understanding of the Heterogeneous Nature of Melanoma with Bioinformatics and Disorder-Based Proteomics.

The past few decades show that incidences of melanoma are on the rise. The risk associated with this disease is an interplay between genetic and host factors and sun exposure. While scientific progress in the treatment of melanoma is remarkable, additional research is needed to improve patient outcomes and to better understand the heterogenous nature of this disease. Fortunately, as the clinical community enters the era of "big data" and personalized medicine, the rise of bioinformatics that stems from rece...

Surgery in the dark - a case of Cardiac Ochronosis.

Alkaptonuria is a rare genetic disorder related to tyrosine metabolism. The cardiovascular manifestations are rare being the aortic stenosis the most commonly reported. We present a case of 72-year-old women who underwent aortic valve replacement with intraoperative findings in the aortic valve and the aortic wall suggestive of Cardiac Ochronosis. Once it is a rare disease there are issues related to the natural history of the disorder that still unknown, namely the type of aortic prothesis in use. For this...

New Horizons for Molecular Genetics Diagnostic and Research in Autism Spectrum Disorder.

Autism spectrum disorder (ASD) is a highly heritable, heterogeneous, and complex pervasive neurodevelopmental disorder (PND) characterized by distinctive abnormalities of human cognitive functions, social interaction, and speech development.Nowadays, several genetic changes including chromosome abnormalities, genetic variations, transcriptional epigenetics, and noncoding RNA have been identified in ASD. However, the association between these genetic modifications and ASDs has not been confirmed yet.The aim ...

Genetic Advance in Depressive Disorder.

Major depressive disorder (MDD) and bipolar disorder (BPD) are both chronic, severe mood disorder with high misdiagnosis rate, leading to substantial health and economic burdens to patients around the world. There is a high misdiagnosis rate of bipolar depression (BD) just based on symptomology in depressed patients whose previous manic or mixed episodes have not been well recognized. Therefore, it is important for psychiatrists to identify these two major psychiatric disorders. Recently, with the accumulat...

Increased Ca signaling in neurons derived from ASD induced pluripotent stem cells.

Autism spectrum disorder (ASD) is a neurodevelopmental disorder with a high co-morbidity of epilepsy and associated with hundreds of rare risk factors. deletion is among the commonest rare genetic factors shared by ASD, schizophrenia, intellectual disability, epilepsy, and developmental delay. However, how deletions lead to different clinical symptoms is unknown. Patient-derived cells are essential to investigate the functional consequences of lesions to human neurons in different diseases.

Genetic heterogeneity in infantile spasms.

Infantile spasms (IS) is a developmental and epileptic encephalopathy with heterogeneous etiologies including many genetic causes. Genetic studies have identified pathogenic variants in over 30 genes as causes of IS. Many of these genetic causes are extremely rare, with only one reported incidence in an individual with IS. To better understand the genetic landscape of IS, we used targeted sequencing to screen 42 candidate IS genes and 53 established developmental and epileptic encephalopathy genes in 92 ind...

Generation of a Novel Rat Model of Angelman Syndrome with a Complete Ube3a Gene Deletion.

Angelman syndrome (AS) is a rare genetic disorder characterized by severe intellectual disability, seizures, lack of speech, and ataxia. The gene responsible for AS was identified as Ube3a and it encodes for E6AP, an E3 ubiquitin ligase. Currently, there is very little known about E6AP's mechanism of action in vivo or how the lack of this protein in neurons may contribute to the AS phenotype. Elucidating the mechanistic action of E6AP would enhance our understanding of AS and drive current research into new...

Cooccurrence of Two Different Genetic Diseases: A Case of Valproic Acid Hepatotoxicity in Nicolaides-Baraitser Syndrome (SMARCA2 Mutation)-Due to a POLG1-Related Effect?

Nicolaides-Baraitser syndrome (NCBRS) is a rare disease caused by a mutation in the gene. Clinical features include craniofacial dysmorphia and abnormalities of the limbs, as well as intellectual disorder and often epilepsy. Hepatotoxicity is a rare complication of the therapy with valproic acid (VPA) and a mutation of the polymerase γ () might lead to a higher sensitivity for liver hepatotoxicity. We present a patient with the coincidence of two rare diseases, the NCBRS and additionally a mutation in co...

Genetic Selection for Alcohol Preference in Mice Alters Dorsal Striatum Neurotransmission.

Although it is widely acknowledged that the risk of developing an alcohol use disorder (AUD) is strongly influenced by genetic factors, very little is known about how this genetic predisposition may alter neurotransmission in a way that promotes AUD susceptibility. The dorsal striatum has garnered increased attention as a brain region of interest in AUD development given its significant roles in goal-directed and habitual behavior.

The genetic architecture of Parkinson's disease.

Parkinson's disease is a complex neurodegenerative disorder for which both rare and common genetic variants contribute to disease risk, onset, and progression. Mutations in more than 20 genes have been associated with the disease, most of which are highly penetrant and often cause early onset or atypical symptoms. Although our understanding of the genetic basis of Parkinson's disease has advanced considerably, much remains to be done. Further disease-related common genetic variability remains to be identifi...

Nutrition Assessment and Intervention in a Pediatric Patient with Angelman Syndrome: A Case Presentation Highlighting Clinical Challenges and Evidence-Based Solutions.

Angelman syndrome (AS) is a rare disorder of genetic imprinting which results in intellectual and developmental disability. It meets criteria of a disorder of neurologic impairment. A deletion in the long arm of chromosome 15 (del 15q11.2-q13) is responsible for about 70% of cases of AS (deletion genotype).

Genetic architecture of Meniere's disease.

Meniere's disease (MD) is a complex disorder of the inner ear that causes vertigo attacks, fluctuating sensorineural hearing loss (SNHL), tinnitus and aural fullness. MD has been attributed to an accumulation of endolymph in the cochlear duct. The diagnosis of MD is based on the phenomenological association of clinical symptoms and the demonstration of SNHL during the vertigo attacks. Several evidences support a genetic contribution to MD including differences in the prevalence according to the ethnic backg...

Fertility preservation and preimplantation genetic assessment for women with breast cancer.

Breast cancer is the most common cancer diagnosed among reproductive aged women, and its treatment can compromise future fertility. Options for fertility preservation include oocyte or embryo cryopreservation after ovarian stimulation (OS), which are the most established choices and are applicable for adult women with cancer. Ovarian tissue freezing may also be appropriate, as it offers potentially the least delay. The recognisation of the role of BRCA1 and BRCA2 mutations in some women has led to the invol...

Adaptation dynamics and evolutionary rescue under sulfide selection in cyanobacteria: a comparative study between Microcystis aeruginosa and Oscillatoria sp. (cyanobacteria).

Experimental evolution studies using cyanobacteria as model organisms are scarce despite their importance in the evolution of photosynthetic organisms. For the first time three different experimental evolutionary approaches have been applied to shed light on the sulfide adaptation process, which played a key role in the evolution of this group. With this purpose, we used a Microcystis aeruginosa sulfide-sensitive strain, unable to grow above ~0.1 mM, and an Oscillatoria sp. strain, isolated from a sulfureou...

Research on multi-agent genetic algorithm based on tabu search for the job shop scheduling problem.

The solution to the job shop scheduling problem (JSSP) is of great significance for improving resource utilization and production efficiency of enterprises. In this paper, in view of its non-deterministic polynomial properties, a multi-agent genetic algorithm based on tabu search (MAGATS) is proposed to solve JSSPs under makespan constraints. Firstly, a multi-agent genetic algorithm (MAGA) is proposed. During the process, a multi-agent grid environment is constructed based on characteristics of multi-agent ...

Genetic variants in DGAT1 cause diverse clinical presentations of malnutrition through a specific molecular mechanism.

DGAT1, a gene encoding a protein involved in lipid metabolism, has been recently implicated in causing a rare nutritional and digestive disease presenting as Congenital Diarrheal Disorder (CDD). Genetic causes of malnutrition can be classified as metabolic disorders, caused by loss of a specific enzyme's function. However, disease driven by genetic variants in lipid metabolism genes is not well understood, and additional information is needed to better understand these effects.

Investigating associations between genetic risk for bipolar disorder and cognitive functioning in childhood.

Identifying phenotypic manifestations of genetic risk for bipolar disorder (BD) in childhood could increase our understanding of aetiological mechanisms.

Genetic analysis of a case of mosaic trisomy 21 associated with autism spectrum disorder.

To explore the genetic basis for a child with autism spectrum disorder (ASD) and congenital heart disease.

Patient-Customized Oligonucleotide Therapy for a Rare Genetic Disease.

Genome sequencing is often pivotal in the diagnosis of rare diseases, but many of these conditions lack specific treatments. We describe how molecular diagnosis of a rare, fatal neurodegenerative condition led to the rational design, testing, and manufacture of milasen, a splice-modulating antisense oligonucleotide drug tailored to a particular patient. Proof-of-concept experiments in cell lines from the patient served as the basis for launching an "N-of-1" study of milasen within 1 year after first contact...

Identification of a novel protein truncating mutation p.Asp98* in XPC associated with xeroderma pigmentosum in a consanguineous Pakistani family.

Xeroderma pigmentosum (XP) is a rare genetic disorder, which is characterized by hyper-sensitivity to solar ultraviolet (UV) radiation. Clinical consequences of sun exposure are skin lesions and an increased risk of developing skin cancer. Genetic studies have identified eight genes associated with xeroderma pigmentosum. The proteins encoded by these genes are mainly involved in DNA repair mechanisms.

Genetic Control of Expression and Splicing in Developing Human Brain Informs Disease Mechanisms.

Tissue-specific regulatory regions harbor substantial genetic risk for disease. Because brain development is a critical epoch for neuropsychiatric disease susceptibility, we characterized the genetic control of the transcriptome in 201 mid-gestational human brains, identifying 7,962 expression quantitative trait loci (eQTL) and 4,635 spliceQTL (sQTL), including several thousand prenatal-specific regulatory regions. We show that significant genetic liability for neuropsychiatric disease lies within prenatal ...

The congenital disorder of glycosylation in PGM1 (PGM1-CDG) can cause severe cardiomyopathy and unexpected sudden cardiac death in childhood.

Sudden cardiac death (SCD) in the young is rare and should always lead to suspicion of a genetic cardiac disorder. We describe a family, in which the proband was a girl deceased by sudden cardiac death in the playground at thirteen years of age. The index-patient had short stature, cleft palate but no previous cardiac symptoms. We found an uncommon cause of cardiomyopathy, due to a congenital disorder of glycosylation (CDG), previously described to cause a variable range of usually mild symptoms, and not pr...


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