Mutations in the human ABCA3 gene, encoding an ABC-transporter, are associated with respiratory failure in newborns and pediatric interstitial lung disease. In order to study disease mechanisms, a transgenic mouse model with a disrupted Abca3 gene was generated by targeting ...

BackgroundABCA3 transporter (ATP-binding cassette transporter of the A subfamily) is localized to the limiting membrane of lamellar bodies, organelles for assembly and storage of pulmonary surfactant in alveolar epithelial type II cells (AECII). It transports surfactant phospholipids into lamellar bodies and absence of ABCA3 function disrupts lamellar body ...

ATP-binding cassette A3 (ABCA3) is a lipid transport protein required for synthesis and storage of pulmonary surfactant in type II cells in the alveoli. Abca3 was conditionally deleted in respiratory epithelial cells (Abca3^?/?) in vivo. The majority ...

ABCA3 protein is expressed predominantly at the limiting membrane of the lamellar bodies in alveolar type II cells, and mutations in the ABCA3 gene cause lethal respiratory distress in newborn infants. To investigate the function of ABCA3 protein, we generated Abca3-deficient mice by targeting ...

Genetic mutations associated with pulmonary surfactant protein deficiency are associated with diverse clinical phenotypes. Mutations of the surfactant protein B and C genes were the first to be described. In 2004, fatal surfactant deficiency in newborns due to mutations of the gene encoding the adenosine triphosphate-binding cassette transporter A3 ...

The ABCA3 gene, of the ABCA subclass of ATP-binding cassette (ABC) transporters, is expressed exclusively in lung. We report here the cloning, molecular characterization, and distribution of human ABCA3 in the lung. Immunoblot analysis using the specific antibody reveals a 150-kDa protein in the crude membrane fraction of human lung. ...

Members of the ATP binding cassette (ABC) protein superfamily actively transport a wide range of substrates across cell and intracellular membranes. Mutations in ABCA3, a member of the ABCA subfamily with unknown function, lead to fatal respiratory distress syndrome (RDS) in the newborn. Using cultured human lung cells, we found that recombinant wild-type ...

BackgroundMutations of genes affecting surfactant homeostasis, such as SFTPB, SFTPC and ABCA3, lead to diffuse lung disease in neonates and children. Haploinsufficiency of NKX2.1, the gene encoding the thyroid transcription factor-1 (TTF-1) - critical for lung, thyroid and central nervous system morphogenesis and function - causes a ...

ABSTRACT: BACKGROUND: Mutations of genes affecting surfactant homeostasis, such as SFTPB, SFTPC and ABCA3, lead to diffuse lung disease in neonates and children. Haploinsufficiency of NKX2.1, the gene encoding the thyroid transcription factor-1 (TTF-1) - critical for lung, thyroid and central nervous system morphogenesis and function - ...

Harlequin ichthyosis (HI) is a devastating skin disorder with an unknown underlying cause. Abnormal keratinocyte lamellar granules (LGs) are a hallmark of HI skin. ABCA12 is a member of the ATP-binding cassette transporter family, and members of the ABCA subfamily are known to have closely related functions as lipid transporters. ABCA3 is involved in lipid ...

Harlequin ichthyosis (HI) is a devastating skin disorder with an unknown underlying cause. Abnormal keratinocyte lamellar granules (LGs) are a hallmark of HI skin. ABCA12 is a member of the ATP-binding cassette transporter family, and members of the ABCA subfamily are known to have closely related functions as lipid transporters. ABCA3 is involved in lipid ...

Mutations in the ABCC6 gene, encoding the multidrug resistance-associated protein 6 (MRP6), cause pseudoxanthoma elasticum (PXE). This heritable disorder leads to pathological alterations in connective tissues. The implication of MRP6 deficiency in PXE is still unknown. Moreover, nothing is known about a possible compensatory expression of other ATP ...

We have identified and cloned three mouse genes that belong to the ABCA subfamily of ATP-binding cassette (ABC) transporters. These three genes are arranged in a tandem head-to-tail cluster spanning about 300 kb on mouse Chromosome (Chr) 7F3. Phylogenetic analysis indicates that although the three genes are related to human and mouse ...

The ATP-binding cassette (ABC) protein superfamily is one of the largest evolutionarily conserved families and is found in all kingdoms of life. The recent completion of the Leishmania genome sequence allowed us to analyze and classify its encoded ABC proteins. The complete sequence predicts a data set of 42 open reading frames (ORFs) coding for proteins belonging to the ABC superfamily, with ...

Mutations in the genes encoding the surfactant proteins B and C (SP-B and SP-C) and the phospholipid transporter, ABCA3, are associated with respiratory distress and interstitial lung disease in the pediatric population. Expression of these proteins is regulated developmentally, increasing with gestational age, and is critical for ...

Five ATP-binding cassette (ABC) subfamily-A transporters (ABCA1, ABCA2, ABCA3, ABCA7 and ABCA8) are expressed in the brain. These transporters may regulate brain lipid transport; however, their relative expression level in isolated human brain cells is unknown. We developed real-time polymerase chain reaction assays to quantify the expression of these ...

ATP-binding cassette transporters ABCA3 and ABCA1 are related to a differentiated, lipid-secreting phenotype of type II pneumocytes. Since mammary gland epithelial cells also show pronounced lipid metabolism and secretion, we investigated the expression of these proteins in normal as well as in neoplastic breast tissue. Normal human breast tissue, breast ...

Ventilatory treatment of neonatal respiratory distress often results in bronchopulmonary dysplasia from congenital surfactant deficiency due to mutants of transporter protein ABCA3. Association of this condition with other severe disorders in premature newborns has not heretofore been reported. A neonatal autopsy included an in vivo whole blood sample for ...

Despite the physiological importance of alpha-tocopherol (AT), the molecular mechanisms involved in maintaining cellular and tissue tocopherol levels remain to be fully characterized. Scavenger receptor B1 (SRB1), one of a large family of scavenger receptors, has been shown to facilitate AT transfer from HDL to peripheral tissues via apo A-1-mediated processes and to be important in the delivery ...

Microarray experiments designed to identify genes differentially expressed in the E11.5 lung and trachea showed that melanoma inhibitory activity (Mia1) was expressed only in the lung. Mia1 was abundantly expressed during early lung development, but was virtually absent by the end of gestation. Distal embryonic lung epithelium showed high levels of Mia1 expression, which was ...

Stem cells intrigue. They have the ability to divide exponentially, recreate the stem cell compartment, as well as create differentiated cells to generate tissues. Therefore, they should be natural candidates to provide a renewable source of cells for transplantation applied in regenerative medicine. Stem cells have the capacity to generate specific tissues or even whole organs like the blood, ...

. The special status of plasticity genes comes from the fact that it is particularly intriguing to consider howCORRESPONDENCE will only lead to the discovery of plasticity genes by chance, or after exhaustive effort. The study of plasticity, and of plasticity genes, will be important and useful for our

Deletion is a particular kind of mutation. It is the loss of a piece of DNA from a chromosome. Deletion of a gene or part of a gene can lead to a disease or abnormality.

... copy leading to the chance acquisition of a new function. The discovery of pairs of genes that have ... must usually precede and cause the evolution of new functions by a duplicated gene. Hughes is unafra...

Increased neuregulin signaling in schizophrenia may suppress the NMDA receptor, leading to lowered glutamate levels.

All cancers are genetic, in that cancers are caused by genetic mutations in genes that lead to malignancy.

affecting head development, during which knirps is expressed 20 . And finally, there are the three TPK genes of key gene interactions, and radical genetic change in embryonic development can lead to an essentially in morphogenesis during embryonic development. Yet the deletion of a gene encoding this protein ...

Lateral gene transfer (LGT) and gene rearrangement are essential for shaping bacterial genomes during evolution. Separate attention has been focused on understanding the process of lateral gene transfer and the process of gene translocation. However, little is known about how gene translocation ...

Targeting the surface of malignant cells has evolved into a cornerstone in cancer therapy, paradigmatically introduced by the success of humoral immunotherapy against CD20 in malignant lymphoma. However, tumor cell susceptibility to immunochemotherapy varies, with mostly a fatal outcome in cases of resistant disease. Here, we show that lymphoma exosomes shield target cells from antibody attack and ...

... Progeria gene in October 2002, and in April 2003, PRF led the announcement that Progeria is caused by a mutation of the gene LMNA, or Lamin A. This gene discovery was reported in the leading scientific journal Nature. The Progeria gene finding involved intensive ...

Background: The horizontal transfer of exogenous antimicrobial resistance genes between bacteria is one of the factors leading to the spread of antimicrobial resistance. To study the epidemiology of this spread, it is necessary to identify the genes responsible for resistance. Currently, each gene m...

This project developed improved theoretical and simulation techniques that take account of stochastic fluctuations in gene expression and lead to reliable predictions of complex cell behaviors. These techniques and associated models were tested and refine...

Researchers have identified a mutation in a gene that could lead to targeted therapies for certain lymphoma patients whose cure rates are currently poor.

press release describing a journal article "Acquired obesity and poor physical fitness impair expression of genes of mitochondrial oxidative phosphorylation in monozygotic twins discordant for obesity"

Professor Bruce McEwen describes how the interplay between life events and genes can lead to behavioral problems.

Scientists say that global warming is leading to changes in the genetic make-up of animals and have cited changes in the genes of mosquitoes. ...

... leads to neuroblastoma. Deletion of certain regions of chromosome 1 and chromosome 11 are associated with neuroblastoma. Researchers ... suppressor gene located in the deleted region of chromosome 1, and mutations in this gene have been identified ...

... Abstract : Germline mutations in the BRCA2 gene lead to an increased lifetime risk for breast and ovarian cancer, and pancreatic, prostate, and ...

... from quiescent breast cell nuclear extract ... factors in the dividing cells may lead ... Descriptors : *BIOLOGY, *GENES, *BREAST CANCER, ACTIVATION ...

... and is thought to function as a cell density signal. ... pathway leading to A-signal production ... Descriptors : *GENES, *CELLS(BIOLOGY), *AMINO ACIDS ...

A NUP98-HOXD13 fusion gene impairs differentiation of B and T lymphocytes and leads to expansion of thymocytes with partial TCRB gene rearrangement. J. Immunol.

... to replace faulty or missing genetic material, thus treating or curing a disease ... Such research could lead to gene-based treatments for cancer, cystic fibrosis ...

... Title : Base Excision Repair Gene Mutations and Polymorphisms as a Potential ... in BER may lead to elevated spontaneous mutation rates and an ...

on whether the trait is dominant or recessive. A mutation in a gene on one of the first 22 nonsex chromosomes can lead to an autosomal disorder. Genes come in pairs. Recessive...

Each set of genes that leads to the complete specification of an individual (or an ... th chromosome for the nth generation that consists of NG genes. ...

... in gene regulation, their abnormal regulation should lead to ... Categories : BIOCHEMISRTY MEDICINE AND MEDICAL RESEARCH TOXICOLOGY. ...

that is mutated in the human progeria Werner Syndrome. In this context, depletion of SIRT6 in human cells leads

... Parkinson's disease occurs mostly in a random sporadic fashion is changing," lead investigator Owen Ross said in ...

Communication in brain cells is guided by interactions between genes and biochemicals at the synapse. These interactions can lead to the formation of new synapses.