1answer.
Ask question
Login Signup
Ask question
All categories
  • English
  • Mathematics
  • Social Studies
  • Business
  • History
  • Health
  • Geography
  • Biology
  • Physics
  • Chemistry
  • Computers and Technology
  • Arts
  • World Languages
  • Spanish
  • French
  • German
  • Advanced Placement (AP)
  • SAT
  • Medicine
  • Law
  • Engineering
SSSSS [86.1K]
1 year ago
11

Mammalian target of rapamycin pathway mutations cause hemimegalencephaly and focal cortical dysplasia

Biology
1 answer:
GuDViN [60]1 year ago
5 0

Yes, it is true that Mammalian target of rapamycin pathway mutations cause hemimegalencephaly and focal cortical dysplasia.

Focal malformations of cortical development, including focal cortical dysplasia (FCD) and hemimegalencephaly (HME), are important causes of intractable childhood epilepsy.

Using targeted and exome sequencing on DNA from resected brain samples and non-brain samples from 53 patients with FCD or HME, we identified pathogenic germline and mosaic mutations in multiple PI3K/AKT pathway genes in 9 patients, and a likely pathogenic variant in 1 additional patient.

Our data confirm the association of DEPDC5 with sporadic FCD but also implicate this gene for the first time in HME. Our findings suggest that modulation of the mammalian target of rapamycin pathway may hold promise for malformation-associated epilepsy.

Learn more about mutations here : brainly.com/question/17031191

#SPJ4

You might be interested in
What are all the mineral's names on Earth?
kogti [31]
Well, I may not name ALL of the minerals, but I can give you the names of some minerals I've known about:
1. Quartz
2. Magnetite
3. Mica
4. Diamond

But just to let you know, there are many minerals out here on Earth. All you have to do is either remember some minerals you know of, or just do some research.
8 0
3 years ago
Read 2 more answers
Why did darwin stop at the island?
ahrayia [7]
Is there anything else that goes with this question? I’m not sure how to answer.
7 0
3 years ago
"match the terms below on the left with the definitions to their right. do this by inserting into" ​ principal-agent problem
nata0808 [166]
The principal-agent problem could be defined by saying that it is an agent who benefits from the effort of others without having even participated in the joint effort. It is a concept that is to be linked more broadly to the problems of information asymmetry.

<span>The term moral hazard refers to a type of market failure where the existence of insurance against a certain risk increases the likelihood of the occurrence of the event causing the risk.</span>

<u>The right answer is:</u>
Principal-agent problem matches with 2
Asymmetric information matches with 3
Adverse selection matches with 4
Moral hazard matches with 1
4 0
2 years ago
Please help more questions coming
Serga [27]
The answer for this is crayton
5 0
3 years ago
Suppose a dominant allele (N) codes for a big nose and a recessive allele (n) codes for a small nose. Imagine that an organism r
Marta_Voda [28]

A. The organism has a large nose, because it's homozygous.


6 0
3 years ago
Other questions:
  • Write 5 things that you learned about clasification of plant?
    10·1 answer
  • लघूत्सवः= *<br>लघु +उत्सवः<br>लघू +उत्सव<br>लघु +त्सवः<br><br>​
    13·1 answer
  • You are the lucky student of a wacky professor who develops a time machine. She asks if you will test it with her. You get in an
    10·2 answers
  • In tomatoes, round fruit (R) is dominant over long fruit (r), and smooth skin (S) is dominant over fuzzy skin (s). A true-breedi
    13·1 answer
  • Describe the change in energy according to the Law of Conservation of Energy.
    13·2 answers
  • PLEASE HELP!!!
    9·2 answers
  • Pleasee helpp this is due tomorrow
    8·2 answers
  • Which of the following consists of group of species living together without considering abiotic factors
    13·1 answer
  • What is the effect of DNA copying which is not perfectly accurate on the reproduction process?​
    10·2 answers
  • Located on the basilar membrane are(is) the ________, containing hair cell sensory receptors for the sense of hearing.
    15·1 answer
Add answer
Login
Not registered? Fast signup
Signup
Login Signup
Ask question!