novel atad3a recessive mutation associated to fatal cerebellar hypoplasia with multiorgan involvement and mitochondrial structural abnormalities.

Answers

Answer 1

A novel recessive mutation in the ATAD3A gene is associated with fatal cerebellar hypoplasia, multiorgan involvement, and mitochondrial structural abnormalities.

This statement highlights the discovery of a new mutation in the ATAD3A gene that has implications for a condition characterized by underdeveloped cerebellum, involvement of multiple organs, and abnormalities in mitochondrial structure. The ATAD3A gene mutation affects the development and function of various organs, particularly the cerebellum, and disrupts the normal structure of mitochondria. Further research is needed to fully understand the mechanisms and implications of this mutation in the affected individuals.

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Related Questions

Biology is considered the study of life.
True
False

Answers

Biology is considered the study of life (True)

Biotic components of an ecosystem are alive.
-True
-False

Biotic components of an ecosystem are alive.-True-False

Answers

Answer:

True!

Explanation:

Abiotic means they are not alive, such as rocks, water, and sunlight!

Hope this helps and don't forget to follow!

Yes, true.
Bio-life
Biology- study of life

Omnivores can eat plants and can also eat meat. Because they can eat meat, they are considered what type of consumer?

Answers

HEYA!!

Answer:

Secondary Consumer.

Explanation:

Omnivores, who feed on both plants and animals, can also be considered as secondary consumer.

HOPE IT MATCHES!!

People are omnivores, meaning we are consumers who eat vegetation (such as ... They eat plants like berries as well as mushroom fungi and animals like salmon or deer. ... Both omnivores and carnivores, meat eaters, are the third trophic level. ... Omnivores can better adapt to development than herbivores or carnivores.

When animals eat both plants and meat, they are called omnivores. The balance of an ecosystem depends on the presence of every type of animal.

Which of the following happens if the glucagon signal drags on? O Oxaloacetate is used as a source for gluconeogenesis. O Acetyl-CoA builds up. O Ketone bodies are biosynthesized. O All of the above happen if the glucagon signal drags on.

Answers

If the glucagon signal drags on, oxaloacetate is used as a source for gluconeogenesis. The correct option is (A).

Glucagon is a peptide hormone produced by the alpha cells of the pancreas that raises blood sugar levels. Glucagon is released when blood sugar levels are low, and it stimulates the liver to convert stored glycogen into glucose, which is then released into the bloodstream. Gluconeogenesis is the process of producing glucose from non-carbohydrate sources when there is insufficient glucose in the body.

Oxaloacetate is a substance used in the process of gluconeogenesis. The pyruvate carboxylase enzyme catalyzes the biosynthesis of oxaloacetate from pyruvate. If the glucagon signal drags on, the body responds by increasing the production of oxaloacetate, which is used as a source for gluconeogenesis. Therefore, if the glucagon signal drags on, oxaloacetate is used as a source for gluconeogenesis.

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What is the ThOD of the following chemicals? Show the balanced stoichiometric equation with your work: (a) 5 mg/L C7H3 (b) 0.5 mg/L C6Cl5OH; (c) C12H10.

Answers

(a) ThOD of C₇H₃  is 6.36 mg/L.

(b) ThOD  of C₆Cl₅OH is 1.12 mg/L.

(c) The ThOD can then be calculated using the stoichiometric ratios of the balanced equation.

(a) The theoretical oxygen demand (ThOD) for C₇H₃ is 6 mg/L. The balanced stoichiometric equation for the aerobic degradation of C₇H₃ is:

C₇H₃ + 10.5 O₂ → 7 CO₂ + 1.5 H₂O

To determine the ThOD, we need to calculate the amount of oxygen required to fully oxidize the organic compound to CO₂ and H₂O. From the balanced equation, we can see that 10.5 moles of oxygen are required to oxidize 1 mole of C₇H₃. Therefore, the ThOD for C₇H₃ is:

ThOD = (5 mg/L) x (10.5 mol O₂/mol C₇H₃) x (32 g O₂/mol) / (1000 mg/g) = 6.36 mg/L

(b) The theoretical oxygen demand (ThOD) for C₆Cl₅OH is 1.5 mg/L. The balanced stoichiometric equation for the aerobic degradation of C₆Cl₅OH is:

C₆Cl₅OH + 7 O₂ → 6 CO₂ + 2.5 H₂O + Cl₂

To determine the ThOD, we need to calculate the amount of oxygen required to fully oxidize the organic compound to CO₂ and H₂O. From the balanced equation, we can see that 7 moles of oxygen are required to oxidize 1 mole of C₆Cl₅OH. Therefore, the ThOD for C₆Cl₅OH is:

ThOD = (0.5 mg/L) x (7 mol O₂/mol C₆Cl₅OH) x (32 g O₂/mol) / (1000 mg/g) = 1.12 mg/L

(c) Without a specific reaction or conditions given, it is impossible to calculate the ThOD for C₁₂H₁₀.

However, in general, the ThOD for organic compounds can be estimated based on the assumption that all of the carbon and hydrogen atoms are oxidized to CO₂ and H₂O, respectively, and all of the nitrogen atoms are converted to NO₃⁻.

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Which term, also called a mini-stroke, refers to a temporary interruption in the blood supply to the brain

Answers

Answer:

The answer you're looking for is transient ischemic attack

Please help! skin melanocytes produce the protein melanin, which gives the skin pigment. muscle cells do not produce melanin. which statement explains this difference between skin melanocytes and muscle cells?

A. muscle cells rely on rna, while melanocytes rely on dna.

B. melanocytes and muscle cells express different genes.

C. muscle cells destroyed the gene for melanin, but melanocytes did not.

D. melanocytes contain different genes from muscle cells

Answers

Answer:

The correct answer is B. "Melanocytes and muscle cells express different genes."

Although all cells in an organism (such as a human) contain the same DNA, different cell types express different sets of genes. Gene expression is the process by which specific genes are activated to produce a needed protein. In this case, the gene responsible for melanin production is expressed in melanocytes, but not in muscle cells.

This does not mean that muscle cells have destroyed the gene for melanin (as stated in option C) or that melanocytes contain different genes from muscle cells (as stated in option D). All cells within an organism contain the same genes, but not all genes are expressed in every cell. The process of gene expression is regulated by the cell to ensure that each cell type functions properly.

Option A is also incorrect because all cells, including both muscle cells and melanocytes, rely on both DNA (for storing genetic information) and RNA (for transmitting that information and producing proteins). DNA is transcribed into RNA, which is then translated into proteins. This process occurs in all cells.

The statement explains the difference between skin melanocytes and muscle cells is - melanocytes and muscle cells express different genes. So option b  is correct.

Melanocytes are dark, dendritic-shaped, highly differentiated cells that secrete melanin, a pigment found in melanosomes, which is the primary function of melanocytes.

Melanocytes are a type of cell derived from the neural crest. They form a synapse with keratinocytes through their dendrites in the epidermis. Melanocytes play an important part in skin pigmentation and their role in the generation and distribution of melanin has been extensively studied.

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Why most everything but the independent variable stay constant

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Answer:

Why must everything but the independent variable stay constant?

Constant variables are important because they ensure that the dependent variable is changing because, and only because, of the independent variable so you can accurately measure the relationship between the dependent and independent variables.Jan 26, 2020

Explanation:

how would you classify this organism based on the dichotomous key?

Answers

A dichotomous key is an important scientific tool, used to identify different organisms, based the organism's observable traits.

What do you mean by dichotomous key?

A dichotomous key is an identification tool mainly used by scientists to classify and identify organisms into particular categories based on their traits. It helps classify animals, plants, bacteria, and any organism by matching their characteristics with known organisms.

Dichotomous keys may be simple or complex depending on what is being identified. For example, distinguishing obvious visible characteristics, such as structures for water movement in woody or herbaceous plant growth is straightforward.

Dichotomous variables are nominal variables which have only two categories or levels. For example, if we were looking at gender, we would most probably categorize somebody as either "male" or "female".

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Correct following sentence: "Xylem carries a two way flow of water and minerals".

Answers

The Correct sentence is as: "Xylem carries a one-way flow of water and minerals".

The only way for water to move up a plant is through the xylem, which is why it is unidirectional. Phloem, on the other hand, may go in both directions and delivers food and nutrients to all parts of the plant. Phloem is made up of living cells while mature xylem is made up of dead cells that do not have cell contents (albeit without nuclei).

The specialized tissue of vascular plants known as the xylem is responsible for providing mechanical support and storage, in addition to transporting water and nutrients from the plant-soil contact to the stems and leaves of the plant.

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A hypothesis is a..... 1.) tentative answer to a question. 2.) possible solution. 4.) proven theory. 5.) a stronger term for certainty than a theory.

Answers

Answer:

1

Explanation:

A tentative answer to a question

what abiotic and biotic features help scientists define biomes

Answers

Answer:

The abiotic factors in an ecosystem are all the nonliving elements, which is the air, water, soil tempature, etc., But the biotic factors are all the living organisms in that ecosystem.

A biome is a biogeographical unit made up of a biological community that has developed as a result of its biotic and abiotic factors. These factors help scientist define biomes.




What are the various biotic and abiotic features?

Abiotic variables are the ecosystem's inanimate physical and chemical components. Typically, the lithosphere, atmosphere, and hydrosphere provide abiotic resources. Abiotic elements include things like water, air, soil, sunlight, and minerals.

The ecosystem's biotic components are alive or extinct organisms. These can reproduce and they are taken from the biosphere. Animals, birds, plants, fungi, and other similar species are examples of biotic forces.


Therefore, scientists can identify a biome by defining the temperature range, soil type, and amounts of light and water that are peculiar to that location and create niches for various species.

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what determines the function of a protein​

Answers

Answer:

The sequence of amino acids. - The three-dimensional shape of the folded protein. - If the coding sequence has a mutation that leads to a change in the amino acid sequence, the protein may have a different three-dimensional shape, reducing its activity.

Explanation:

What information can scientists learn from studying ice cores?

-the composition of the ancient atmosphere

-the diet of early mammals

-the amount of solar radiation received in a specific location

-changes in the height of sea level

Answers

Scientists can learn several pieces of information from studying ice cores, including.

What are iron cores ?

Ice cores offer a record of the gases that have been present in the atmosphere across time, including concentrations of carbon dioxide, methane, and other trace gases. Scientists can discover information about past climate conditions and how they changed through time by examining the gases trapped in the ice.

Ice cores give a record of previous climate conditions, including temperature, precipitation, and wind patterns, for a specific region. Scientists can learn about past climate conditions, how they changed over time, and how they compared to the ones today by examining the ice.

Ice cores can reveal information regarding the amount of solar radiation that was received at a particular area. This can be used to forecast future weather conditions as well as comprehend past weather patterns.

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A type of cell division that results in diploid cells:
meiosis or mitosis
A type of cell division that results in haploid cells.
meiosis or mitosis

Answers

Answer:

the first one is mitosis

and the second one is meiosis

Answer:

Diploid cells: Mitosis

Haploid Cells: Meiosis

What is the function of connective tissues ​

Answers

Answer:

Functions of Connective tissue:

It connects and provides support to the various organs of the body together.It surrounds organs and tissues such as muscles,nerves,bones,kidney etc.It helps to strengthen the structure and helps to repair the tissue .It provides support to the body and forms the rigid framework for the attachment of the muscles.

Hope this helps...

Good luck on your assignment..

What is the answer please?????

What is the answer please?????

Answers

Answer: 4th option

Your welcome

Why do scientists believe that life first emerged from the ocean and onto land well after the ancestors of modern-day cyanobacteria populated the Earth?

The cyanobacteria produced radiant energy from the nitrogen and carbon it absorbed from the shallow sea floor. Organisms needed this light energy to see on land.
These bacteria used visible light energy to create chemical energy, expelling oxygen that was converted to ozone. The ozone blocked the Sun's harmful UV radiation from reaching the ground.
The ancient cyanobacteria converted the Sun's radiant energy to heat, warming the ocean waters. They eventually drove many organisms from the oceans and onto land.
These bacteria provided a much needed chemical energy source for organisms living at the shoreline. Without this food source, the first land-dwelling organisms would not have survived.

Answers

Answer:

These bacteria used visible light energy to create chemical energy, expelling oxygen that was converted to ozone. The ozone blocked the Sun's harmful UV radiation from reaching the ground

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Silver and gold are common medals used in making jewelry. Why do you think these metals are used?

A. they are ductile and malleable.
B. they have luster.
C. they cannot be dissolved in water.
D. All of above

Answers

Answer:

A. They are ductile and malleable

Explanation:

Although they have luster/shine they can be be dissolved in water and in acid so it can not be all of the above. They are malleable so they can be easily be made into jewelry.

write in short about medical occupation​

Answers

A vocation characterized by a specialized body of knowledge of medicine that its members must teach and expand, by a code of ethics and a duty of service that put patient care above self-interest, and by the privilege of self-regulation granted by society.Occupational medicine (also known as “occupational health”) is focused on the treatment of work-related injuries and illnesses. Physicians trained in occupational medicine diagnose and treat work-related injuries much more effectively than most primary care physicians.

The average Olympic runner has a mass of 67.8 kg and accelerates at 10.38 m/s2. What is the force accelerated by an Olympic runner?

A. 703.8 N
B. 525 N
C. 120 N
D. 6.5 N

Answers

Answer:

im having trouble with this too unfortunately

Explanation:

Abcdabcdabcdabcd Which is c

Which type of molecule that can be found in living things lacks carbon atoms? Protein Carbohydrates Fat Water

Answers

Water - only consists on Oxygen and hydrogen

Carbohydrates- carbon hydrogen oxygen

Fat- consists of hydrocarbon chains

Proteins - has a central carbon

Answer:

d

Explanation:

Ceratium fusus is a protist that is found primarily in coastal waters, especially around the coast of the United Kingdom. These organisms are unique because they can undergo a special chemical reaction at night that helps defend them against predators. It provides defense by attracting larger predators that prey on the organisms that eat Ceratium fusus. Which characteristic of Ceratium fusus is being described? photosynthesis glass-like cell walls bioluminescence chitin cell walls.

Answers

A chemical defense mechanism is called bioluminescence.

As mentioned in the reaction, Ceratium fusus undergoes a special chemical reaction at night which helps them defend themselves from predators. During this reaction, light is produced inside a living organism. However, this type of reaction does not produce heat although it does produce light.

What is bioluminescence used for?

The most well-known purpose of bioluminescence is to defend the organism against attacks by predators. This is because the light confuses or frightens predators.

Besides confusing the predator, the light can also alert large predators to approach the location of the organism, in this way this large predator will eat the predator that is threatening the organism which in our question, is Ceratium fusus.

Many marine organisms use the phenomenon of bioluminescence for their defense, in particular marine invertebrates, vertebrates, certain micro-organisms as well as certain fish and fungi.

Hence concluded that the bioluminescence characteristic of Ceratium fusus is being described.

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Answer:

C

Explanation:

Which type of epithelial cell is best adapted to aid diffusion?
a. squamous
b. cuboidal
c. columnar
d. transitional

Answers

The correct option is a. Squamous.

Explanation: Squamous epithelial cells are best adapted to aid diffusion. They are flat, thin, and closely packed, allowing for efficient diffusion of molecules across their surfaces. The flattened shape of squamous cells reduces the diffusion distance, facilitating the rapid exchange of gases, nutrients, and waste products between tissues and blood vessels or other fluid compartments. This type of epithelium is found in locations where efficient diffusion is essential, such as the alveoli of the lungs, capillaries, and the lining of blood vessels. Cuboidal and columnar epithelial cells are involved in absorption, secretion, and protection, while transitional epithelial cells are specialized for stretching and recoiling, particularly in organs like the urinary bladder.

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Match each part of the brain with the correct label. 2

Match each part of the brain with the correct label. 2

Answers

Answer:

For the numbers on the brain

1. Forebrain: Telencephalon

2. Forebrain: Diencephalon

3. Hindbrain

4. Midbrain

Explanation: correct

The main function of the human digestive system is to A. rid the body of cellular waste materials B. process organic molecules so they can enter cells C. break down glucose in order to release energy D. change amino acids into proteins and carbohydrates

Answers

Answer:

Hi there your answer is B

Explanation:

There are a lot of functions to the digestive system like absorbing nutrients, get rid of waste but the main function is to process organic molecules so they can enter cells.

Hope this helped :)

Human Digestive System is a complex system made up of organs, tissues, and hormones. The primary function of the human digestive system is to break down and process food into nutrient molecules.

The correct answer is:

Option B. process organic molecules so they can enter cells

The functions of the human digestive system are:

The digestive system uses a chemical or mechanical process to break down the complex food substances into nutrient molecules. These molecules are then absorbed by the cells.

The digestive system is involved in the assimilation and absorption of the nutrient molecules to yield energy.

Thus, the digestive system process the food and break it down into simpler forms, so it can be absorbed by the cells.

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Spencer noticed that he eats 4-5 times a day but only poops about once a day. He wondered where all the food he eats ends up going. After all, he only gained 5 pounds last year.

Answers

The food you eat is decreased in a number of ways as it passes through your digestive tract, water is taken in, nutrition is absorbed, some waste materials return to the bladder or intestines.

What is the digestive system?

The digestive system is made up of the liver, pancreas, and gallbladder as well as the gastrointestinal tract, commonly known as the GI tract or digestive tract. From the mouth to the anus, the GI tract is made up of several hollow organs connected by a protracted, twisted tube. The stomach, small intestine, large intestine, and anus are the hollow organs that make up the GI tract. The digestive system's solid organs are the liver, pancreas, and gallbladder.

Three sections make up the small intestine. The duodenum is the name of the first section. The ileum is at the end, while the jejunum is in the middle. The cecum, colon, rectum, and appendix are all parts of the large intestine. A finger-shaped pouch connected to the cecum is the appendix.

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1. The epistemology generally preferred in the natural sciences is
a.Based heavily on directly observable evidence
b.Willing to use more abstract, often unobservable forms of evidence
c.Generally accepting of the disorderly nature of society
2. Interdisciplinary studies emphasizes the development of knowledge using insights developed within the disciplines
Group of answer choices
True
False

Answers

1. The epistemology generally preferred in the natural sciences is a) Based heavily on directly observable evidence.

In the natural sciences, empirical evidence obtained through observation, experimentation, and measurement is highly valued. The emphasis is on gathering data from the physical world and using it to develop theories and explanations.

2. Interdisciplinary studies emphasizes the development of knowledge using insights developed within the disciplines is True.

Interdisciplinary studies emphasizes the development of knowledge using insights developed within the disciplines. It provides a platform for the exchange of knowledge and expertise between disciplines. This leads to a better understanding of complex problems and issues, which can be solved with a more comprehensive and holistic approach. Interdisciplinary studies are particularly useful in fields that are complex, and where a single disciplinary approach is insufficient. For example, climate change is a global problem that requires interdisciplinary collaboration between environmental scientists, climatologists, geographers, policy makers, and economists.

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Eating GMO plants is no more risky than their non-GMO equivalent. True or false? Why?

Answers

True bc the GMO has no other o

*
Some eukaryotic cells and most prokaryotic cells contain

Answers

Answer:

plasma membrane, ribosomes...

Explanation:

Both prokaryotic and eukaryotic cells have structures in common. All cells have a plasma membrane, ribosomes, cytoplasm and DNA... The cytoplasm is all the contents of the cell inside the cell membrane, not including the nucleus.

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