Rules and impact of nonsense-mediated mRNA decay in human cancersFran Supek
Premature termination codons (PTCs) cause a large proportion of inherited human genetic diseases. PTC-containing transcripts can be degraded by an mRNA surveillance pathway termed nonsense-mediated mRNA decay (NMD). However, the efficiency of NMD varies; it is inefficient when a PTC is located downstream of the last exon junction complex (EJC). We used matched exome and transcriptome data from 9,769 human tumors to systematically elucidate the rules of NMD targeting in human cells. An integrated model incorporating multiple rules beyond the canonical EJC model explains approximately three-fourths of the non-random variance in NMD efficiency across thousands of PTCs. We also show that dosage compensation may sometimes mask the effects of NMD. Applying the NMD model identifies signatures of both positive and negative selection on NMD-triggering mutations in human tumors and provides a classification for tumor-suppressor genes.
Ibica2014 p(8) visualizing and identifying the dna methylationAboul Ella Hassanien
DNA methylation is an epigenetic mechanism that cells use to control
gene expression. DNA methylation has become one of the hottest topics in cancer
research, especially for abnormally hypermethylated tumor suppressor genes
or hypomethylaed oncogenes research. The analysis of DNA methylation data
determines the differential hypermethlated or hypomethylated genes that are candidate
to be cancer biomarkers. Visualization the DNA methylation status may
lead to discover new relationships between hypomethylated and hypermethylated
genes, therefore this paper applied a mathematical modelling theory called formal
concept analysis for visualizing DNA methylation status.
Pamphlet with the presentation of two news on Genetic Transcription:
- How 1,000 new genetic variants were discovered in blood groups
- New mechanisms of gene inactivation may prevent aging and cancer
The epigenetic regulation of DNA-templated processes has been intensely studied over the last 15
years. DNA methylation, histone modification, nucleosome remodeling, and RNA-mediated targeting regulate many biological processes that are fundamental to the genesis of cancer. Here, we
present the basic principles behind these epigenetic pathways and highlight the evidence suggesting that their misregulation can culminate in cancer. This information, along with the promising clinical and preclinical results seen with epigenetic drugs against chromatin regulators, signifies that it
is time to embrace the central role of epigenetics in cancer.
Introduction to Cancer
Stem cells and cancer cells
major pathways that lead to formation of tumors.
Tumor Supressors
Colon cancer to prove Knudson hypothesis.
The modern treatments available to treat cancer.
CELLULAR REPROGRAMMING: Current Technology, Perspectives and Generation of iP...Munna Yadav
Reprogramming refers to erasure and remodelling of epigenetic marks, such as DNA methylation, during mammalian development. Exposure of a differentiated cell nucleus to the cytoplasm of less differentiated cell leads to erasure of the stable epigenetic code that maintains the differentiated cell’s phenotype. Gradually, the nucleus acquires a new epigenetic code that is characteristic of the dedifferentiated cell donating the cytoplasm, a process termed cellular reprogramming.
Seminario biologia molecular. MicroRNA 197-3p y daño endotelial en la enferme...VALEVEROVILLADAORTIZ
En esta exposición se hace referencia a un artículo en el que se estudió la relación entre el MicroRNA 197-3p y el daño en células endoteliales de arteria coronaria en niños con enfermedad de Kawasaki.
Rules and impact of nonsense-mediated mRNA decay in human cancersFran Supek
Premature termination codons (PTCs) cause a large proportion of inherited human genetic diseases. PTC-containing transcripts can be degraded by an mRNA surveillance pathway termed nonsense-mediated mRNA decay (NMD). However, the efficiency of NMD varies; it is inefficient when a PTC is located downstream of the last exon junction complex (EJC). We used matched exome and transcriptome data from 9,769 human tumors to systematically elucidate the rules of NMD targeting in human cells. An integrated model incorporating multiple rules beyond the canonical EJC model explains approximately three-fourths of the non-random variance in NMD efficiency across thousands of PTCs. We also show that dosage compensation may sometimes mask the effects of NMD. Applying the NMD model identifies signatures of both positive and negative selection on NMD-triggering mutations in human tumors and provides a classification for tumor-suppressor genes.
Ibica2014 p(8) visualizing and identifying the dna methylationAboul Ella Hassanien
DNA methylation is an epigenetic mechanism that cells use to control
gene expression. DNA methylation has become one of the hottest topics in cancer
research, especially for abnormally hypermethylated tumor suppressor genes
or hypomethylaed oncogenes research. The analysis of DNA methylation data
determines the differential hypermethlated or hypomethylated genes that are candidate
to be cancer biomarkers. Visualization the DNA methylation status may
lead to discover new relationships between hypomethylated and hypermethylated
genes, therefore this paper applied a mathematical modelling theory called formal
concept analysis for visualizing DNA methylation status.
Pamphlet with the presentation of two news on Genetic Transcription:
- How 1,000 new genetic variants were discovered in blood groups
- New mechanisms of gene inactivation may prevent aging and cancer
The epigenetic regulation of DNA-templated processes has been intensely studied over the last 15
years. DNA methylation, histone modification, nucleosome remodeling, and RNA-mediated targeting regulate many biological processes that are fundamental to the genesis of cancer. Here, we
present the basic principles behind these epigenetic pathways and highlight the evidence suggesting that their misregulation can culminate in cancer. This information, along with the promising clinical and preclinical results seen with epigenetic drugs against chromatin regulators, signifies that it
is time to embrace the central role of epigenetics in cancer.
Introduction to Cancer
Stem cells and cancer cells
major pathways that lead to formation of tumors.
Tumor Supressors
Colon cancer to prove Knudson hypothesis.
The modern treatments available to treat cancer.
CELLULAR REPROGRAMMING: Current Technology, Perspectives and Generation of iP...Munna Yadav
Reprogramming refers to erasure and remodelling of epigenetic marks, such as DNA methylation, during mammalian development. Exposure of a differentiated cell nucleus to the cytoplasm of less differentiated cell leads to erasure of the stable epigenetic code that maintains the differentiated cell’s phenotype. Gradually, the nucleus acquires a new epigenetic code that is characteristic of the dedifferentiated cell donating the cytoplasm, a process termed cellular reprogramming.
Seminario biologia molecular. MicroRNA 197-3p y daño endotelial en la enferme...VALEVEROVILLADAORTIZ
En esta exposición se hace referencia a un artículo en el que se estudió la relación entre el MicroRNA 197-3p y el daño en células endoteliales de arteria coronaria en niños con enfermedad de Kawasaki.
RNA splicing mutations and human disease: Pompe disease - Emanuele Buratti
Convegno del 25 novembre "Diagnosi e management della glicogenosi tipo 2" - Centro di coordinamento regionale malattie rare FVG
"Introns: Structure and Functions" during November, 2011 (Friday Seminar activity, Department of Biotechnology, University of Agricultural Sciences, Dharwad, Karnataka) by Yogesh S Bhagat (Ph D Scholar)
Signal Pathways in Immune Cell Development.pptxDr.Kanury Rao
Signaling pathways have a fine relation with cancer-causing mutations. Signaling pathways monitor the tumorigenesis that deceive signaling networks. Dr. Kanury Rao has invented an early detection cancer tool especially for women.
Direct Lineage Reprogramming: Novel Factors involved in Lineage ReprogrammingAhmed Madni
Direct linage reprogramming has got a major focus in biomedical field. The production of specific functional cell type from totally different cell lineage is called lineage reprogramming. In other words, it is induction of functional cell type from another linage without passing through intermediate stage of pluripotent.
Intracellular Events in Antigen Processing.pptxDr.Kanury Rao
Intracellular signaling or events are caused on the surfaces of the cells. Dr. Kanury Rao, the greatest immunologist of all time, has conducted an in-depth analysis of intracellular events to develop a tool for early detection of cancer.
Similar to Eukaryotic RNA processing: alternative RNA splicing (20)
Couples presenting to the infertility clinic- Do they really have infertility...Sujoy Dasgupta
Dr Sujoy Dasgupta presented the study on "Couples presenting to the infertility clinic- Do they really have infertility? – The unexplored stories of non-consummation" in the 13th Congress of the Asia Pacific Initiative on Reproduction (ASPIRE 2024) at Manila on 24 May, 2024.
ARTIFICIAL INTELLIGENCE IN HEALTHCARE.pdfAnujkumaranit
Artificial intelligence (AI) refers to the simulation of human intelligence processes by machines, especially computer systems. It encompasses tasks such as learning, reasoning, problem-solving, perception, and language understanding. AI technologies are revolutionizing various fields, from healthcare to finance, by enabling machines to perform tasks that typically require human intelligence.
TEST BANK for Operations Management, 14th Edition by William J. Stevenson, Ve...kevinkariuki227
TEST BANK for Operations Management, 14th Edition by William J. Stevenson, Verified Chapters 1 - 19, Complete Newest Version.pdf
TEST BANK for Operations Management, 14th Edition by William J. Stevenson, Verified Chapters 1 - 19, Complete Newest Version.pdf
Ozempic: Preoperative Management of Patients on GLP-1 Receptor Agonists Saeid Safari
Preoperative Management of Patients on GLP-1 Receptor Agonists like Ozempic and Semiglutide
ASA GUIDELINE
NYSORA Guideline
2 Case Reports of Gastric Ultrasound
Knee anatomy and clinical tests 2024.pdfvimalpl1234
This includes all relevant anatomy and clinical tests compiled from standard textbooks, Campbell,netter etc..It is comprehensive and best suited for orthopaedicians and orthopaedic residents.
Recomendações da OMS sobre cuidados maternos e neonatais para uma experiência pós-natal positiva.
Em consonância com os ODS – Objetivos do Desenvolvimento Sustentável e a Estratégia Global para a Saúde das Mulheres, Crianças e Adolescentes, e aplicando uma abordagem baseada nos direitos humanos, os esforços de cuidados pós-natais devem expandir-se para além da cobertura e da simples sobrevivência, de modo a incluir cuidados de qualidade.
Estas diretrizes visam melhorar a qualidade dos cuidados pós-natais essenciais e de rotina prestados às mulheres e aos recém-nascidos, com o objetivo final de melhorar a saúde e o bem-estar materno e neonatal.
Uma “experiência pós-natal positiva” é um resultado importante para todas as mulheres que dão à luz e para os seus recém-nascidos, estabelecendo as bases para a melhoria da saúde e do bem-estar a curto e longo prazo. Uma experiência pós-natal positiva é definida como aquela em que as mulheres, pessoas que gestam, os recém-nascidos, os casais, os pais, os cuidadores e as famílias recebem informação consistente, garantia e apoio de profissionais de saúde motivados; e onde um sistema de saúde flexível e com recursos reconheça as necessidades das mulheres e dos bebês e respeite o seu contexto cultural.
Estas diretrizes consolidadas apresentam algumas recomendações novas e já bem fundamentadas sobre cuidados pós-natais de rotina para mulheres e neonatos que recebem cuidados no pós-parto em unidades de saúde ou na comunidade, independentemente dos recursos disponíveis.
É fornecido um conjunto abrangente de recomendações para cuidados durante o período puerperal, com ênfase nos cuidados essenciais que todas as mulheres e recém-nascidos devem receber, e com a devida atenção à qualidade dos cuidados; isto é, a entrega e a experiência do cuidado recebido. Estas diretrizes atualizam e ampliam as recomendações da OMS de 2014 sobre cuidados pós-natais da mãe e do recém-nascido e complementam as atuais diretrizes da OMS sobre a gestão de complicações pós-natais.
O estabelecimento da amamentação e o manejo das principais intercorrências é contemplada.
Recomendamos muito.
Vamos discutir essas recomendações no nosso curso de pós-graduação em Aleitamento no Instituto Ciclos.
Esta publicação só está disponível em inglês até o momento.
Prof. Marcus Renato de Carvalho
www.agostodourado.com
Tom Selleck Health: A Comprehensive Look at the Iconic Actor’s Wellness Journeygreendigital
Tom Selleck, an enduring figure in Hollywood. has captivated audiences for decades with his rugged charm, iconic moustache. and memorable roles in television and film. From his breakout role as Thomas Magnum in Magnum P.I. to his current portrayal of Frank Reagan in Blue Bloods. Selleck's career has spanned over 50 years. But beyond his professional achievements. fans have often been curious about Tom Selleck Health. especially as he has aged in the public eye.
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Introduction
Many have been interested in Tom Selleck health. not only because of his enduring presence on screen but also because of the challenges. and lifestyle choices he has faced and made over the years. This article delves into the various aspects of Tom Selleck health. exploring his fitness regimen, diet, mental health. and the challenges he has encountered as he ages. We'll look at how he maintains his well-being. the health issues he has faced, and his approach to ageing .
Early Life and Career
Childhood and Athletic Beginnings
Tom Selleck was born on January 29, 1945, in Detroit, Michigan, and grew up in Sherman Oaks, California. From an early age, he was involved in sports, particularly basketball. which played a significant role in his physical development. His athletic pursuits continued into college. where he attended the University of Southern California (USC) on a basketball scholarship. This early involvement in sports laid a strong foundation for his physical health and disciplined lifestyle.
Transition to Acting
Selleck's transition from an athlete to an actor came with its physical demands. His first significant role in "Magnum P.I." required him to perform various stunts and maintain a fit appearance. This role, which he played from 1980 to 1988. necessitated a rigorous fitness routine to meet the show's demands. setting the stage for his long-term commitment to health and wellness.
Fitness Regimen
Workout Routine
Tom Selleck health and fitness regimen has evolved. adapting to his changing roles and age. During his "Magnum, P.I." days. Selleck's workouts were intense and focused on building and maintaining muscle mass. His routine included weightlifting, cardiovascular exercises. and specific training for the stunts he performed on the show.
Selleck adjusted his fitness routine as he aged to suit his body's needs. Today, his workouts focus on maintaining flexibility, strength, and cardiovascular health. He incorporates low-impact exercises such as swimming, walking, and light weightlifting. This balanced approach helps him stay fit without putting undue strain on his joints and muscles.
Importance of Flexibility and Mobility
In recent years, Selleck has emphasized the importance of flexibility and mobility in his fitness regimen. Understanding the natural decline in muscle mass and joint flexibility with age. he includes stretching and yoga in his routine. These practices help prevent injuries, improve posture, and maintain mobilit
These simplified slides by Dr. Sidra Arshad present an overview of the non-respiratory functions of the respiratory tract.
Learning objectives:
1. Enlist the non-respiratory functions of the respiratory tract
2. Briefly explain how these functions are carried out
3. Discuss the significance of dead space
4. Differentiate between minute ventilation and alveolar ventilation
5. Describe the cough and sneeze reflexes
Study Resources:
1. Chapter 39, Guyton and Hall Textbook of Medical Physiology, 14th edition
2. Chapter 34, Ganong’s Review of Medical Physiology, 26th edition
3. Chapter 17, Human Physiology by Lauralee Sherwood, 9th edition
4. Non-respiratory functions of the lungs https://academic.oup.com/bjaed/article/13/3/98/278874
Acute scrotum is a general term referring to an emergency condition affecting the contents or the wall of the scrotum.
There are a number of conditions that present acutely, predominantly with pain and/or swelling
A careful and detailed history and examination, and in some cases, investigations allow differentiation between these diagnoses. A prompt diagnosis is essential as the patient may require urgent surgical intervention
Testicular torsion refers to twisting of the spermatic cord, causing ischaemia of the testicle.
Testicular torsion results from inadequate fixation of the testis to the tunica vaginalis producing ischemia from reduced arterial inflow and venous outflow obstruction.
The prevalence of testicular torsion in adult patients hospitalized with acute scrotal pain is approximately 25 to 50 percent
Ethanol (CH3CH2OH), or beverage alcohol, is a two-carbon alcohol
that is rapidly distributed in the body and brain. Ethanol alters many
neurochemical systems and has rewarding and addictive properties. It
is the oldest recreational drug and likely contributes to more morbidity,
mortality, and public health costs than all illicit drugs combined. The
5th edition of the Diagnostic and Statistical Manual of Mental Disorders
(DSM-5) integrates alcohol abuse and alcohol dependence into a single
disorder called alcohol use disorder (AUD), with mild, moderate,
and severe subclassifications (American Psychiatric Association, 2013).
In the DSM-5, all types of substance abuse and dependence have been
combined into a single substance use disorder (SUD) on a continuum
from mild to severe. A diagnosis of AUD requires that at least two of
the 11 DSM-5 behaviors be present within a 12-month period (mild
AUD: 2–3 criteria; moderate AUD: 4–5 criteria; severe AUD: 6–11 criteria).
The four main behavioral effects of AUD are impaired control over
drinking, negative social consequences, risky use, and altered physiological
effects (tolerance, withdrawal). This chapter presents an overview
of the prevalence and harmful consequences of AUD in the U.S.,
the systemic nature of the disease, neurocircuitry and stages of AUD,
comorbidities, fetal alcohol spectrum disorders, genetic risk factors, and
pharmacotherapies for AUD.
4. One of the ways that cells
produce multiple protein
isoforms from individual
genes is a process called
alternative splicing.
know the functions and
interactions of the products of this
process is very important for
understanding the causes and
possible solutions thus to illness.
5.
6. One of the ways that cells produce
multiple protein isoforms from
individual genes is a process called
alternative splicing.
7. The number of different proteins in
human cells exceeds the number of
genes.
Proteins have a unique function in the cell,
or do their roles sometimes overlap?
8. Different protein isoforms encoded by the same gene
Have divergent functions in each one tissue.
Interacted whit different protein partners.
9. Student`s observation:
This news amplifies beliefs about the complexity of the
organism, because although there is a sequence of
established human genome, each step by the central
dogma have hundreds events that leading to a marked
diversity in the functions and interactions of proteins.
10.
11. In humans the differentiation of stem cells is
vital.
Mutations in differentiation pathways of
different cell types can be drivers of cancers.
Researchers found a new
mechanism of differentiation in
megakaryocytes, the blood cells
responsible for platelet
production.
12. There are two key proteins in the pathway ,PRMT1 and
RBM15 .They may also regulate differentiation many tissues.
• RBM15 RNA-binding protein binds to intron
regions of the pre-messenger RNA for genes
of transcription factors such as RUNX1, GATA1
and TAL1 normal and abnormal
hematopoiesis.
• RBM15 appears to recruit the splicing factor
SF3B1 to correctly splice the exons.
PMRT1 suppresses the
activity of RBM15 for a
process called
ubiquination .
13. A mutant fusion of RBM15 and MKL1
proteins is associated with acute
megakaryoblastic leukemia.
If RBM15 protein is low megakaryocytic progenitor
cells cannot differentiate.
If RBM15 is high the progenitor cells is differentiate
into mature megakaryocytes.
14. Student`s observation:
Understanding the mechanism of action of proteins
involves multiple areas such as roles, interactions with each
other and the regulation of these are vital to finding the
causes of the disturbances and the formulation of possible
solutions.
15.
16. The fact that both news talk about
alternative splicing, confirms the
importance of this process in the
body, because here multiple
mutations that are characteristic of
many diseases and their detection and
treatment could mean big advances in
medicine .
18. The protein isoforms can
contribute to evaluate disease
and prove to be valuable targets
for drug therapy.
19. • MARTINEZ SÁNCHEZ, Lina María. Biología molecular. 2. ed.
Medellín: UPB. Fac. de Medicina, 2006.
• University of Alabama at Birmingham. (2016, January 12). New
pathway to differentiation found, shedding light on some
cancers. ScienceDaily. Retrieved February 28, 2016 from
www.sciencedaily.com/releases/2016/01/160112093533.htm
• Dana-Farber Cancer Institute. (2016, February 11). Alternative
proteins encoded by the same gene have widely divergent
functions in cells.ScienceDaily. Retrieved February 28, 2016 from
www.sciencedaily.com/releases/2016/02/160211141339.htm