{"id":14060,"date":"2024-03-01T17:07:16","date_gmt":"2024-03-01T17:07:16","guid":{"rendered":"https:\/\/www.writemyessays.app\/blog\/questions\/germline-mutations-affecting-the-histone-h4-core-cause-a-developmental-syndrome-by-altering-dna-damage-response-and-cell-cycle-control\/"},"modified":"2024-03-01T17:07:16","modified_gmt":"2024-03-01T17:07:16","slug":"germline-mutations-affecting-the-histone-h4-core-cause-a-developmental-syndrome-by-altering-dna-damage-response-and-cell-cycle-control","status":"publish","type":"questions","link":"https:\/\/www.writemyessays.app\/blog\/questions\/germline-mutations-affecting-the-histone-h4-core-cause-a-developmental-syndrome-by-altering-dna-damage-response-and-cell-cycle-control\/","title":{"rendered":"Germline mutations affecting the histone H4 core cause a developmental syndrome by altering DNA damage response and cell cycle control"},"content":{"rendered":"
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Goals & Learning Objectives<\/span>
<\/span><\/div>\n

<\/span><\/div>\n
Apply basic principles of molecular biology, gene expression, and<\/span>
Mendelian genetics to analysis of a recent primary literature article in<\/span>
human genetics<\/span><\/p>\n
<\/div>\n<\/div>\n

<\/span><\/div>\n
Interpret experiments from the primary literature<\/span>
<\/span><\/div>\n

<\/span><\/span><\/div>\n
Synthesize the results of individual experiments to draw appropriate<\/span>
conclusions<\/span>
<\/span><\/span><\/div>\n

<\/span><\/span><\/span><\/div>\n
Effectively communicate scientific questions, hypotheses, results, and<\/span>
conclusions<\/span>
<\/span><\/span><\/span><\/div>\n

<\/span><\/span><\/span><\/span><\/div>\n
<\/p>\n
\n
Assess and evaluate the ability of other students to effectively<\/span>
communicate scientific questions, hypotheses, results, and conclusions<\/span><\/p>\n
<\/div>\n<\/div>\n<\/div>\n
<\/div>\n


<\/span><\/span><\/span><\/span><\/div>\n


<\/span><\/span><\/span><\/span><\/div>\n
<\/p>\n
\n
What to include in presentations<\/span>
Requirements:<\/span>
1) Background on disease \u2013 disease course, prevalence, inheritance pattern, one<\/span>
gene\/many genes, penetrance\/expressivity<\/span>
2) What was known previously about the molecular and genetic basis of this<\/span>
disease?<\/span>
3) How was disease gene isolated? What type of<\/span>
genetic\/molecular\/association\/sequence-based technique was used?<\/span>
4) What are the characteristics of the protein encoded by the disease gene?<\/span>
What are the important protein domains? What is known about the<\/span>
molecular\/biochemical function of the protein?<\/span>
5) Where do the mutations map in the disease gene?<\/span> <\/span>Do the mutations make<\/span>
sense with the mode of inheritance?<\/span>
6) Do the mutations in the disease gene explain why patients get the disease?<\/span>
7) Does this information offer a potential treatment for the disease?<\/span>
8) What are the \u201cnext steps\u201d? What experiments need to be done to extend<\/span>
knowledge of this disease?<\/span><\/p>\n
<\/div>\n<\/div>\n<\/div>\n
<\/div>\n


<\/span><\/span><\/span><\/span><\/div>\n

What to include in presentations<\/span>
Presentation must include: <\/span><\/span><\/span><\/span><\/span><\/span><\/div>\n

1 figure from the paper that contains information about how the gene was<\/span>
<\/p>\n

isolated.<\/span><\/span><\/div>\n

1 figure from the paper that contains information about the mutations\/gene<\/span>
<\/p>\n

product\/function.<\/span> <\/span><\/div>\n
Supplemental figures count as a figure from the paper<\/span><\/div>\n

<\/span><\/div>\n
\n
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What you don\u2019t have to include<\/span><\/div>\n
Presentations do not have to show all figures from the paper.<\/span><\/span><\/div>\n

<\/span><\/div>\n
 <\/span>Presentations do not have to show all figures from the paper.<\/span> <\/span>You don\u2019t have to understand 100% of the content of the paper<\/span><\/div>\n<\/div>\n<\/div>\n<\/div>\n
<\/div>\n


<\/p>\n","protected":false},"excerpt":{"rendered":"

Goals & Learning Objectives Apply basic principles of molecular biology, gene expression, andMendelian genetics to analysis of a recent primary literature article inhuman genetics Interpret experiments from the primary literature Synthesize the results of individual experiments to draw appropriateconclusions Effectively communicate scientific questions, hypotheses, results, andconclusions Assess and evaluate the ability of other students to […]<\/p>\n","protected":false},"author":2,"featured_media":0,"comment_status":"open","ping_status":"closed","template":"","meta":[],"disciplines":[40],"paper_types":[],"tagged":[],"aioseo_notices":[],"_links":{"self":[{"href":"https:\/\/www.writemyessays.app\/blog\/wp-json\/wp\/v2\/questions\/14060"}],"collection":[{"href":"https:\/\/www.writemyessays.app\/blog\/wp-json\/wp\/v2\/questions"}],"about":[{"href":"https:\/\/www.writemyessays.app\/blog\/wp-json\/wp\/v2\/types\/questions"}],"author":[{"embeddable":true,"href":"https:\/\/www.writemyessays.app\/blog\/wp-json\/wp\/v2\/users\/2"}],"replies":[{"embeddable":true,"href":"https:\/\/www.writemyessays.app\/blog\/wp-json\/wp\/v2\/comments?post=14060"}],"version-history":[{"count":0,"href":"https:\/\/www.writemyessays.app\/blog\/wp-json\/wp\/v2\/questions\/14060\/revisions"}],"wp:attachment":[{"href":"https:\/\/www.writemyessays.app\/blog\/wp-json\/wp\/v2\/media?parent=14060"}],"wp:term":[{"taxonomy":"disciplines","embeddable":true,"href":"https:\/\/www.writemyessays.app\/blog\/wp-json\/wp\/v2\/disciplines?post=14060"},{"taxonomy":"paper_types","embeddable":true,"href":"https:\/\/www.writemyessays.app\/blog\/wp-json\/wp\/v2\/paper_types?post=14060"},{"taxonomy":"tagged","embeddable":true,"href":"https:\/\/www.writemyessays.app\/blog\/wp-json\/wp\/v2\/tagged?post=14060"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}