遺伝子
Aortic Disease Research (9/19/22) 23:25-28:00 The Marfan syndrome presentations were numerous and, and almost too many to cite. I pulled just a couple. マルファン症候群については、多くの発表がありました。その中からいくつかご紹介します。 Th…
Advances in the Treatment of Aortic Dissection 26:58-29:11 So there's this question of the Phenotype-Genotype interplay. We know that certain gene mutations within the Marfan family are associated with a higher rate of ectopia lentis or sk…
What’s in Your LDS Family Tree? Genetics, Variability, Outcomes (September 1, 2020) 1:06:12-1:12:10 So last question because we're running up on time and this is actually a question I've been struggling with as well. Knowing that testing p…
What’s in Your LDS Family Tree? Genetics, Variability, Outcomes (September 1, 2020) 1:01:49-1:06:09 So someone is asking your thoughts again on the variability within one type of Loeys-Dietz-like syndrome if you think it's more likely to b…
What’s in Your LDS Family Tree? Genetics, Variability, Outcomes (September 1, 2020) 52:30-55:52 Can the mutation happen anytime in life or is it from birth only? I have a son with LDS2 and a healthy older daughter. My son is de novo so the…
What’s in Your LDS Family Tree? Genetics, Variability, Outcomes (September 1, 2020) 46:47-52:27 This is a tough one. I'm trying to figure out. I don't think it's answerable but what are, what are statistical chances for VUS within TGFBR1 g…
What’s in Your LDS Family Tree? Genetics, Variability, Outcomes (September 1, 2020) 46:47-48:22 Can a parent with one type of Loeys-Dietz syndrome, perhaps type four, pass down a different type of LDS to their kids? MacCarrick: 親のLDS型と…
What’s in Your LDS Family Tree? Genetics, Variability, Outcomes (September 1, 2020) 42:38-46:43 So just curious Dr. Dietz, your thoughts on like who makes a good candidate for moving forward with whole exome or what kind of family like if …
What’s in Your LDS Family Tree? Genetics, Variability, Outcomes (September 1, 2020) 31:27-33:00 So there was one last question about what's new in terms of genetic aortopathies and I was just gonna touch briefly on one kind of syndromic ne…
What’s in Your LDS Family Tree? Genetics, Variability, Outcomes (September 1, 2020) 29:59-31:25 In our cohort just a word on two specific variants that we've seen that present with very aggressive childhood disease. 我々が研究対象としてい…
What’s in Your LDS Family Tree? Genetics, Variability, Outcomes (September 1, 2020) 19:35-21:18 So in terms of Loeys-Dietz syndrome you might all be familiar with the TGF-beta signaling pathway. This is the pathway where Loeys-Dietz gene d…
What’s in Your LDS Family Tree? Genetics, Variability, Outcomes (September 1, 2020) 18:48-19:24 So Loeys-Dietz syndrome is an autosomal dominant condition, which means that any person that has a gene change in one of Loeys-Dietz genes each…
What’s in Your LDS Family Tree? Genetics, Variability, Outcomes (September 1, 2020) 16:57-18:44 So whenever we do a genetic test there can be three answers that we get: it could be clearly negative so sometimes variants are found that are …
What’s in Your LDS Family Tree? Genetics, Variability, Outcomes (September 1, 2020) 12:53-15:48 My name is Gretchen MacCarrick. I'm a genetic counselor at Johns Hopkins. I've been with their connective tissue aortopathy group for about 19 …
Marfan Syndrome Management: Back to Basic 7:23-8:15 So what about genetic testing? So, you know, historically we, not everyone got genetic testing. You could just look at someone and say, "Well, I think they probably have Marfan syndrome,"…
Marfan Syndrome Management: Back to Basic 5:41-7:22 So I'm just showing genetics over here just showing a gene or a, a chromosome. If you guys remember from school we all we have 46 of these chromosomes that sit here. There's 23 pairs of c…
Living with Risk 28:32-30:17 Here's a patient who has vEDS and Loeys-Dietz, VUS. So this is a not exactly a disease-causing mutation has had a pneumothorax and so what imaging does this person need. vEDSとLoeys-Dietz症候群両方の遺伝子検査…
Living with Risk 23:53-25:39 So then, there's another question. "What advice can you offer for sharing new diagnostic, diagnostic information with other family members who have not been tested but may be similarly affected..." 「遺伝子検査…
Children with Marfan, Loeys-Dietz, and VEDS: More than Medicine 8:10-10:50 Okay, so along those lines let's talk about some important concepts about genes, environment and what we call G x E or that's genes by environment interaction. では…
Living a Life with LDS (September 12, 2020) E3 Summit 21:38-24:36 What about the distribution of the occurrence of those genes? ではLDSのタイプ分布を見てみましょう。 The most common one is is still TGF-beta receptor 2, which is about half …
Living a Life with LDS (September 12, 2020) E3 Summit 19:03-19:54 So overall we do have now at least five established genes. Receptor 1, receptor 2, SMAD3, TGF-beta 2 and 3. これまでの研究から、LDSの原因遺伝子として少なくとも5種類（TGFBR1…
Living a Life with LDS (September 12, 2020) E3 Summit 14:48-18:05 So soon after we described it clinically we identified the TGF beta receptors as the causal genes, which we published in 2005. As you can see here on the figure the TGF beta…
Aortic Root Surgery in Connective Tissue Conditions - Surgery Series (2/10/21) 13:38-15:52 So we know that thoracic aortic disease is commonly familial. You everyone in this audience, I'm sure, knows a lot about Marfan, Loeys-Dietz, Ehlers…
はじめに マルファン症候群の遺伝のしくみ 遺伝子検査の方法 遺伝子検査が推奨されるケース マルファン症候群の遺伝子検査における制約 マルファン症候群の関連疾患 まとめ はじめに フィブリリン-1（FBN1）やその他の遺伝子の変異を調べる遺伝子検査は、マ…
