what are NOTCH1 gene mutations

Q: What are Nonsense mutations?

A: Mutation is a sudden change in nucleotide sequence of DNA as well as change in chromosomes number.

Q: What causes the majority of the mutations found in human melanomas and lung cancer?

A: DNA is the chemical in each cells that makes up the genes and some genes control when cells grow,…

Q: What are the FMN, Fe-s, Q, cytb, and cyt a3?

A: FMN, Fe-s, Q, cytb, and cyt a3: These are part of the electron transport chain.  electron transport…

Q: Why are some chromosomal regions amplified/deleted in a specific manner in certain tumor types?

A: Chromosomal amplification: Chromosomal amplification can be explained as the increase in the amount…

Q: What does Artemis (protein) do? How do loss of function mutations associated with Artemis cause…

A: Artemis is nuclear protein which is involved in DNA repair as well as V(D)J recombination.…

Q: What type of DNA changes are revealed from p.Gln39X mutation. Is it pathogenic?

A: Introduction: Mutations are the change in the nucleotide sequence of DNA. It may occur in somatic…

Q: What is the molecular characteristic and phenotype of the silent mutation in multidrug resisitent…

A: Silent mutation are the mutations in DNA which do not have an phenotypic effect on the organism.…

Q: What does the BCR gene do?

A: A short-portion of the DNA is termed as a gene. The genes are the essential functions as well as…

Q: What are the types of mutations, and how does each alter theencoded protein?

A: Mutations are the changes in the genome resulting in synthesis of different products. These changes…

Q: What is the effect of the NDM gene?

A: NDM (New Delhi Metallo-β-lactamase) gene,  found in Enterobacteriaceae, is a genetic element…

Q: In a Ccpp individual, which functional enzyme ismissing? Is it the enzyme encoded by the C or P…

A: Recessive Allele is the result of a loss of function mutation.

Q: How does constitutively active Ras promote cancer?

A: In physiology carcinogenesis is known as the production of cancerous cells or tumor cells by…

Q: Vhat is Proteomic Phenotype and its connection to COVID-19?

A: The quick development of new diagnostic and treatment procedures has been necessitated by the…

Q: What are missense mutations?

A: Mutation refers to change in the DNA sequence of a gene. The substances that cause mutations are…

Q: What are Activator (Ac) mutations ?

A: There is a need for several proteins and enzymes in the process of transcription. It is studied…

Q: What is claudin16 gene

A: Claudin 16 is a protein which belongs to the family of claudin proteins, it is encoded by the CLDN16…

Q: What would happen if the retinoblastoma protein wasn't able to bind to the E2F transcription factor?

A: The retinoblastoma protein (pRb) is a tumor suppressor protein that helps to prevent excessive cell…

Q: hat are the 3 point mutations?

A: A point mutation could be a mutation that solely affects one ester of macromolecule. purpose…

Q: Would the function of KRAS gene be lost or gained in MDA-MB-231 breast cancer derived cells? Please…

A: KRAS gene is a gene present on the short arm of chromosome 12 that is responsible for the formation…

Q: What happens when the iron level increases and the IRP no longer binds transferrin-receptor mRNA?

A: To answer this question we should have knowledge of gene expression.

Q: Which among the mammalian expression system and the bacterial expression system is better in…

A: Transfection : It is the process of artificially introducing nucleic acids into cells , utilizing…

Q: Which form of Retinoblastoma typically results in unilateral disease and exhibits 2-hit mutational…

A: Retinoblastoma is a cancer that affects the eyes. It is specifically a cancer of retinal layer of…

Q: what are proto-oncogenes

A: Oncogenes are those genes that can cause cancer. These genes are usually are normally present in our…

Q: How does the poliovirus protease 2Aro inhibit the expression of cellular genes?

A: Poliovirus 2Apro is a protein comprised of 149 amino acids that belong to the cysteine protease…

Q: Which tissue in the human body is the CFTR gene most expressed?

A: Introduction The CFTR gene encodes a membrane protein and chloride channel in vertebrates called…

Q: Why don’t all loss-of-function mutations that are recessive at the cellular level behave as…

A: Loss of function mutation refers to the mutation in a gene that leads to reduced or no function of…

Q: Which are the three types of short sequences within the primary transcript?

A: Primary transcripts are the pre-RNA (ribonucleic acid) transcripts that are the initial product of…

Q: What are knockout mutations?

A: Deoxyribonucleic acid or DNA is a molecule that contains the genetic code of the organisms. DNA…

Q: why is the tas2r38 gene also called the ptc gene

A: PTC is a compound known as Phenylthiocarbamide (PTC), also called phenylthiourea (PTU). It is an…

Q: Which is generally more serious—a missense mutation or a nonsense mutation?

A: A mutation occurs/happens when the sequence/structure of DNA is altered. Mutations can occur as a…

Q: Why do Tbx5 mutations affect limbs and heart but no other tissues?

A: Introduction Mutation can be defined as the change in the DNA sequence or a structural change in the…

Q: What are non- LTR retrotransposons ?

A: Non-LTR retrotransposons are the ones that comprise genes coding for reverse transcriptase along…

Q: What are conditional knockout mice?

A: A knockout mouse (conventional knockout) is a genetically modified mouse in which the researchers…

Q: What is the main lincRNA involved in X-inactivation, and what is known about its function?

A: Chromosomes are long thread-like structures that carry coded genetic information in the form of DNA.…

Q: What are pseudogenes and how are they produced? Are pseudogenes expressed?

A: The DNA is the genetic material that is passed from one generation to the next generation. It is…

Q: what is the various steps of production of secreted proteins in eukaryotic cells and their…

A: A hormone signals the gene that encodes the protein to be interpreted into mRNA within the nucleus.…

Q: What Control ElementsRegulate Expression ofthe mPGES-1 Gene?

A: The mPGES-1 gene in humans is responsible for encoding an enzyme involved in the synthesis of…

Q: what is another type of disease caused by a duplication mutation? How does it present itself?

A: Mutation can be defined as any random change that occurs in the DNA sequence. A rapid change in the…

Q: What is gene targeting in embryonic stem cells?

A: Introduction Gene targeting in the embryonic stem cells through homologous recombination techniques…

Q: What is the frequency of loss-of-function mutations in ADE2 when specific (HDR) and non-specific…

A: Each pathway, including the non-homologous end joining (NHEJ), resulted in a 50% reduction in…

Q: what are the normal funtions of the p53 gene

A: p53 gene is also called as tumour suppressor gene or Tp53 gene produces the protein called tumour…

Q: What is nonsense mutation ?

A: A mutation is any change in a cell’s DNA sequence. It may change one or more base pairs. The effects…

Q: How is the Ras protein activated and inactivated?

A: Ras proteins are defined as the regulators for the process of signal transduction. These proteins…

Q: What is Proteomic Phenotype and its connection to COVID-19?

A: The emergence of novel coronavirus disease 2019 (COVID-19), caused by the SARS-CoV-2 coronavirus,…

Q: how does the sequence of the primary transcript resemble the sequence of the gene encoding it

A: The genes undergo transcription to form mRNA. The mRNA is then modified via post-transcriptional…

Q: What is c3435T mutataion,What is the clinical implication of c3435T mutation, what is the molecular…

A: A mutation is an alteration that  changes a nucleotide of nucleic acid. It mainly involves the…

Mitochondrial Mutations

A mitochondrion is a cellular organelle that serves as the site for cellular respiration and energy production (ATP or Adenosine Triphosphate). It is a double-membrane-bound organelle and is only present in eukaryotic cells.