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04:20 EST 27th February 2020 | BioPortfolio

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Showing "Genetic mutations link rare skin disorder alcoholic fatty" PubMed Articles 1–25 of 23,000+


Non-alcoholic fatty liver disease is characterized by deposition of lipids in the hepatic parenchyma exceeding 5% of liver weight in the absence of other conditions, such as viral or alcoholic hepatitis and metabolic disease. Non-alcoholic fatty liver disease is the most common form of chronic liver disease in several countries. In addition to liver complications, recent studies have shown a relation between liver fat and sarcopenia.

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.

Compound heterozygous mutations in the gene cause Sjögren-Larsson syndrome: a case report.

Sjögren-Larsson syndrome is a rare, autosomal, recessive neurocutaneous disorder caused by mutations in the gene, which encodes the fatty aldehyde dehydrogenase enzyme. Deficiency in fatty aldehyde dehydrogenase results in an abnormal accumulation of toxic fatty aldehydes in the brain and skin, which cause spasticity, intellectual disability, ichthyosis, and other clinical manifestations. We present the clinical features and mutation analyses of a case of SLS. The family history and clinical data of the p...

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.

Mutations in the VPS13B Gene in Iranian Patients with Different Phenotypes of Cohen Syndrome.

Cohen syndrome is a rare autosomal recessive disorder characterized by hypotonia, obesity, developmental delay, mental retardation, and facial, oral, ophthalmic, and limb deformities. Mutations in VPS13B have been found to be responsible for this disorder. In the current report, we have assessed three Iranian families with developmental delay and skeletal deformities. Whole exome sequencing of the affected probands led to identification of the underlying genetic cause in these families. Three mutations were...

Serum miR-33a is associated with steatosis and inflammation in patients with non-alcoholic fatty liver disease after liver transplantation.

MiR-33a has emerged as a critical regulator of lipid homeostasis in the liver. Genetic deficiency of miR-33a aggravates liver steatosis in a preclinical model of non-alcoholic fatty liver disease (NAFLD), and relative expression of miR-33a is increased in the livers of patients with non-alcoholic steatohepatitis (NASH). It was unknown whether miR-33a is detectable in the serum of patients with NAFLD. We sought to determine whether circulating miR-33a is associated with histological hepatic steatosis, inflam...

Identification and functional characterization of mutations within HADHB associated with mitochondrial trifunctional protein deficiency.

Mitochondrial trifunctional protein (MTP) deficiency is a rare autosomal recessive disorder with several phenotypes. Neuromyopathic form of MTP deficiency is characterized by infantile or juvenile-onset, progressive peripheral neuropathy and rhabdomyolysis. To date, only one Chinese patient harboring homozygous c. 739C>T (p.R247C) in HADHB has been reported. Here, using whole exome sequencing (WES), we identified a compound heterozygote of c.407T>C (p.M136T) and c.421G>A (p.A141T) within HADHB in a Chinese ...

Development of Non-alcoholic Fatty Liver Disease (NAFLD) in Young Obese Tribal Subjects of Tripura: Link between Low 25 (OH) Vitamin-D Levels and Immune Modulators.

There have been many studies conducted so far on Non Alcoholic Fatty Liver Disease (NAFLD) with its many aspects including its association with 25 hydroxy Vitamin D levels and its rather complex interplay with pro-inflammatory cytokines such as Interleukin-1a (IL-1a), Interleukin-6 (IL-6) and Tumour Necrosis Factor-Alpha (TNF-α), Interleukin-17a (IL-17a) and anti-inflammatory cytokines such as Interleukin-4 (IL-4) and Interleukin-10 (IL-10). This study was designed to show the development of NAFLD in the y...

A cross-sectional study of the public health response to non-alcoholic fatty liver disease in Europe.

Non-alcoholic fatty liver disease (NAFLD) is a growing public health problem worldwide and has become an important field of biomedical inquiry. We aimed to determine whether European countries have mounted an adequate public health response to NAFLD and non-alcoholic steatohepatitis (NASH).

Non-alcoholic fatty liver disease and risk of incident acute myocardial infarction and stroke: findings from matched cohort study of 18 million European adults.

To estimate the risk of acute myocardial infarction (AMI) or stroke in adults with non-alcoholic fatty liver disease (NAFLD) or non-alcoholic steatohepatitis (NASH).

Prognostic value of non-alcoholic fatty liver disease in the elderly patients.

Non-alcoholic fatty liver disease (NAFLD) is the liver manifestation of metabolic syndrome, a risk factor for mortality and cardiovascular morbidity, but we ignore the role of steatosis per se in survival, and there is very little information about this condition in the geriatric patient.

Low levels of total and high-molecular-weight adiponectin may predict non-alcoholic fatty liver in Korean adults.

While weight gain is known as a predictor of non-alcoholic fatty liver disease (NAFLD) incidence, it remains controversial whether adipokine levels predict the development of NAFLD. We aimed to investigate the relationship of total adiponectin, high-molecular-weight (HMW) adiponectin, and leptin with the development and improvement of non-alcoholic fatty liver (NAFL) independent of sex and weight change over a maximum of 8.5 years.

Secondary causes of fatty liver disease - an update on pathogenesis, diagnosis and treatment strategies.

Secondary causes of fatty liver disease are important to recognize since specific therapy options are available for some of these causes. Common causes of secondary fatty liver disease comprise hepatitis C virus infection (HCV), endocrinological diseases, nutritional and intestinal diseases as well as genetic liver and metabolic diseases. Certain drugs may also predispose to the development of fatty liver disease. Primary fatty liver disease, also known as non-alcoholic fatty liver disease (NAFLD) is define...

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...

Hyperglycemia induces key genetic and phenotypic changes in human liver epithelial HepG2 cells which parallel the Leprdb/J mouse model of non-alcoholic fatty liver disease (NAFLD).

Non-alcoholic fatty liver disease (NAFLD) is a growing global health concern. With a propensity to progress towards non-alcoholic steatohepatitis (NASH), cirrhosis, and hepatocellular carcinoma, NAFLD is an important link amongst a multitude of comorbidities including obesity, diabetes, and cardiovascular and kidney disease. As several in vivo models of hyperglycemia and NAFLD are employed to investigate the pathophysiology of this disease process, we aimed to characterize an in vitro model of hyperglycemia...

The impact of modifiable risk factors on the long-term outcomes of non-alcoholic fatty liver disease.

Cardiovascular (CV) disease is the leading cause of mortality in patients with non-alcoholic fatty liver disease (NAFLD). The American Heart Association (AHA) developed 7 CV health metrics (poor, intermediate and ideal health) to improve CV health.

ATP6V1B1 recurrent mutations in Algerian deaf patients associated with renal tubular acidosis.

Hereditary distal renal tubular acidosis (dRTA) is a rare disorder characterized by metabolic acidosis due to impaired renal acid excretion. To date, three genes (ATP6V1B1, ATP6V0A4 and SLC4A1) have been reported to be responsible for this genetic disorder. Notably, mutations of ATP6V1B1 gene, which encode B1-subunit of H + -ATPase pump cause distal renal tubular acidosis often, associated with sensorineural hearing loss (SNHL). Furthermore, enlarged vestibular aqueduct (EVA) was also described in some pa...


Over consumption of added sugar is associated with obesity, non-alcoholic fatty liver disease (NAFLD), and insulin resistance (IR).

Unique reticular hyperkeratotic eruptions seen in a patient with Darier's disease and attention deficit hyperactivity disorder.

Darier's disease (DD) is an autosomal dominant genetic disorder caused by mutations in the ATP2A2 gene which encodes a sarco/endoplasmic reticulum Ca ATPase type 2 isoform (SERCA2). SERCA2 is expressed in epidermal keratinocytes in the skin and neurocytes in the brain. It is associated with neuropsychiatric diseases, such as mental retardation, mood disorders, schizophrenia and epilepsy. This article is protected by copyright. All rights reserved.

Hepatitis B virus activity is not associated with degree of liver steatosis in patients with Hepatitis B-related chronic liver disease.

The recently published manuscript by Zhu and colleagues "Hepatitis B virus infection and risk of non-alcoholic fatty liver disease: A population-based cohort study" found no correlation between presence of chronic HBV and presence of common risk factors for non-alcoholic fatty liver disease on primary analysis. A limitation to this study, like most population based research, is the absence of liver histology, which is considered gold standard for assessment of non-alcoholic fatty liver disease.

Prevalence of non-alcoholic fatty liver and liver fibrosis in patients with moderate-severe psoriasis: A cross-sectional cohort study.

Several studies have reported that non-alcoholic fatty liver disease (NAFLD) is more frequent in patients with psoriasis, but few have reviewed the presence of liver fibrosis in those patients.

Early onset granulomatous arthritis, uveitis and skin rash: characterisation of skin involvement in Blau syndrome.

Blau syndrome (BS) is a rare monogenic autoinflammatory disease caused by NOD2 mutations. BS classically presents in early childhood as a triad of granulomatous polyarthritis, uveitis and skin involvement. Joint and ocular involvement have been characterized by several cohort studies but only very little data is available on skin lesions.

Neurodevelopmental Disorder with Progressive Microcephaly, Spasticity, and Brain Anomalies in China Caused by Novel Mutations of PLAA.

Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies (NDMSBA; OMIM #617527) is a rare autosomal recessive genetic condition associated with mutated PLAA (NM_001031689.3). To date, only six such families have been recorded [1, 2]. Here, we present the first report of NDMSBA in both China and Asia. This article is protected by copyright. All rights reserved.

Review article: can bugs be drugs? The potential of probiotics and prebiotics as treatment for non-alcoholic fatty liver disease.

Non-alcoholic fatty liver disease (NAFLD) has become the most common chronic liver condition. A major current research effort is ongoing to find potential strategies to treat NAFLD-non-alcoholic steatohepatitis (NASH), with special attention to the gut microbiota. Multiple animal studies and pilot clinical trials are assessing different gut microbiota modulating strategies such as faecal microbiota transplantation, antibiotics, probiotics, prebiotics and synbiotics.

Primary familial brain calcification presenting as paroxysmal kinesigenic dyskinesia: genetic and functional analyses.

Primary familial brain calcification (PFBC) is a rare neurodegenerative disorder characterized by calcium deposition in bilateral and symmetric brain. Evidence suggested that PFBC might be associated with paroxysmal kinesigenic dyskinesia (PKD). We aim to investigate the genetic causes in PFBC patients manifested as PKD, and further to explore the pathogenic impact of the identified mutations.

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