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Doctor insights on: Gene Expression In Mitochondria

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Describe microrna gene expression deregulation in human breast cancer?

Describe microrna gene expression deregulation in human breast cancer?

Can't do in 400: The study of micro-rnas is cutting-edge and extremely arcane and you need to go directly to pubmed or one of the other big ways to access the scientific data. If someone is offering a breast cancer treatment to re-regulate your micro-rna's, call your district attorney. Glad you have an inquiring mind and i wish you luck with your project. ...Read more

Genetic (Definition)

From a medical standpoint, "genetic" refers to the potential heritability of various medical conditions. While some conditions are inevitable (at some point in one's life) as a consequence of simple genetic heritability (eg huntington's disease), a large number of medical conditions (including all behaviorial health disorders) are the expressed final pathway of a ...Read more


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Is sickle cell dominant or recessive in its inheritance?

Is sickle cell dominant or recessive in its inheritance?

Recessive: Sickle cell is autosomal recessive which means both parents must have a copy of the defective allele (one or both can be carriers but exhibit no symptoms). ...Read more

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Is the beta-thalassemia gene recessive or dominant?

Is the beta-thalassemia gene recessive or dominant?

Neither: People normally have 2 beta globulin genes. A mutation in one or both genes leads to 3 levels of beta thalassemia. The genetics of the disorder is not all-or-none nor dominant-recessive. Instead, more or worse mutations causes worse disease. One mutation = beta thal trait (mild symptoms), 2 mutations = beta thal intermedia (transfusions sometimes) or beta thal major (lifelong transfusions needed). ...Read more

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What is the function of protein kinases in gene expression?

What is the function of protein kinases in gene expression?

Signal transduction: Signal transduction is a way for a cell to convert an extracellular signal into a response. Some protein kinases are part of signal transduction pathways. They are cellular enzymes that modify other cellular components by adding phosphate groups to them. This causes a biochemical chain of events that may result in altered levels of gene expression. ...Read more

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What chromosome is mutated in sickle cell disease?

What chromosome is mutated in sickle cell disease?

11: The beta globin gene is mutated in sickle cell anemia; it is located on chromosome 11. ...Read more

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What are germline gene alterations?

What are germline gene alterations?

Inheritable: "germline" refers to genes that are present in every cell of the body from conception or shortly afterwards, including sperm/ ova, and thus can be passed down to offspring. This term is used to distinguish these types of inherited genetic mutations from those that are not inherited - not present in the dna of sperm or ova. ...Read more

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How does a mutation in the fbn1 gene affect the structure and function in fibrillin-1 protein?

Major substrate: Fibrillin is a major building block of microfibrils which constitute part of the important substrate for the connective tissue so developing a defective pattern. I guess you might be asking about marfans syndrome which is the ailment associated with the fbn1 gene mutation. This is the background problem to the cardiac, ocular and musculoskeletal issues that caracterize marfans. ...Read more

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Can gene thereapy alter a living persons genome?

Can gene thereapy alter a living persons genome?

No: Not at this point yet. The aim of such therapy would be not to alter the human genome but rather to correct it to make it as closer o normal as possible. ...Read more

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I've achromatopsia, which chromosome is affected?

I've achromatopsia, which chromosome is affected?

Several: Rod monochromatism is most common form of achromatopsia, inherited as autosomal recessive condition; it can be can be caused by more than one gene mutation. So far, mutations or variants of any of 4 genes, cnga3, cngb3, gnat2 and recently pde6c, have been linked to each causing rod monochromatism. These 4 genes appear to account for about 79% of cases of rod monochromatism. See comment below—>. ...Read more

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Is there a defective gene in neurofibromatosis?

Is there a defective gene in neurofibromatosis?

Mostly genetic: Neurofibromatosis is a mostly inherited problem or mutation with degrees involvement from mild to severe. NF t autosomal dominant pattern of inheritance. People are born with one mutated copy of the NF1 gene in each cell. In about half of cases, the altered gene is inherited from an affected parent. Remaining cases result from new mutations in the NF1 gene, ...Read more

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What chromosomal mutation results in alagille syndrome?

What chromosomal mutation results in alagille syndrome?

ALGS: Alagille syndrome (algs) is a complex multisystem disorder involving primarily the liver, heart, eyes, face, and skeleton. The two genes in which mutations are known to cause algs are jag1 and notch2. Mutations in jag1 are known to cause about 94%-96% of cases of algs. Mutations in notch2 are known to cause algs in 1%-2% of individuals. ...Read more

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Gene expression in different primates brain, how is it different from human?

Gene expression in different primates brain, how is it different from human?

Reference: See the paper http://www.ncbi.nlm.nih.gov/m/pubmed/14557539/. For more information, I recommend a Medline search or check Amazon for book-length reviews. Your question can't be answered in 400 characters, or 400 words, or 400 lines, or even 400 pages. Some neurobiologists spend their entire careers on this kind of research. ...Read more

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What is the difference in chromosomal and gene mutations?

What is the difference in chromosomal and gene mutations?

8.6k genes on chrom: We have 20,000 genes on our 23 chromosomes. We have 2 copies of each chromosome except for the 23rd pair (X & Y in males and X & X in females). A gene mutation affects a single gene on one copy of one chromosome. A chromosomal abnormality affects many genes . It may be a 3rd copy or just a single copy of part/all of a chromosome or a 'translocation' can place part of a chromosome onto another. ...Read more

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What kind of mutation is present in the brca1 gene in the breast cancer families?

What kind of mutation is present in the brca1 gene in the breast cancer families?

Loss of function: Brca 1 and 2 genes encode proteins than normally repair our dna. When the genes are mutated, the protein they normally make does not work correctly, leading to loss of the ability to fix other dna mutaions, and development of tumors. ...Read more

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Cause of a positive monoclonal T cell beta gene rearrangement?

Cause of a positive monoclonal T cell beta gene rearrangement?

Tumor: Monoclonal proliferation of lymphoid cells is usually an indication of tumor of the lymphoid tissue. ...Read more

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Gene expression profiling predicts clinical outcome of breast cancer?

Gene expression profiling predicts clinical outcome of breast cancer?

We're Getting There: In the past, we used anatomic staging alone (tumor size, lymph node involvement) to guide rx. Gene profiling allows us a completely separate measure of prognosis, and, more importantly, can predict who may or may not benefit from different chemotherapy agents. In the future, we will hopefully be able to tailor our rx to the specific cancer being treated: the elusive personalized medicine. ...Read more

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Which chromosomes is achondroplasia thought to affect?

Which chromosomes is achondroplasia thought to affect?

Chromosome 4: The gene that has been associated with aberrant formation of cartilage is the fgfr3 gene which is mapped to chromosome 4. It is inherited in an autosomal dominant fashion. ...Read more

Gene (Definition)

A hereditary unit consisting of a sequence of dna that occupies a specific location on a chromosome and determines a particular characteristic in an organism. Genes undergo mutation when their ...Read more


Dna (Definition)

Dna are the coding molecules found in all living things on earth which contain the instructions on how to build living things. Its is comprised the nucleotide molecules which are ...Read more