An American boy born in 2005, Liam Hoekstra, was diagnosed with a clinically similar condition but with a somewhat different cause: his body produces a normal level of functional myostatin, but because he is stronger and more muscular than most others his age, his doctor believes that a defect in his myostatin receptors prevents his muscle cells from responding normally to myostatin.

Today, most gene therapy studies are aimed at cancer and hereditary diseases linked to a genetic defect.

The patients had a defect in the RPE65 gene, which was replaced with a functional copy using adeno-associated virus.

( e. g. an undetectable performance-enhancing gene therapy was used by one of the characters on himself, but to avoid copyright infringement, this gene therapy was modified from the tested-to-be-harmless original, which produced a fatal cardiovascular defect )

* Shaker gene mutations cause a defect in the voltage gated ion channels, slowing down the repolarization of the cell.

Theoretically this process should be simple as the airway is easily accessible and there is only a single gene defect to correct.

Rett syndrome was initially diagnosed by clinical observation, but the diagnosis is definitive when there is a genetic defect in the MECP2 gene.

A defect in the human homologue of the Drosophila " period " gene was identified as a cause of the sleep disorder FASPS ( Familial advanced sleep phase syndrome ), underscoring the conserved nature of the molecular circadian clock through evolution.

But with the sudden demand of blue puppies many American Bully owners started inbreeding their dogs to produce more of the blue gene ; the blue is actually a genetic defect of the black genome.

A working model describes the defect in the HFE gene, where a mutation puts the intestinal absorption of iron into overdrive.

The defect in the TLR4 gene that led to the endotoxin resistant phenotype was discovered to be due to a mutation in the cytoplasmic domain.

The genetic form is caused by a defect in the gene for AMP deaminase though there is also an acquired form of AMP deficiency.

Since 2009, most researchers use a different nomenclature based on the gene defect ( e. g. CDG-Ia

This gene is recessive and a female would need two X chromosomes with the defect to show typical male pattern alopecia.

Axolotls are used in heart defect studies due to the presence of a mutant gene that causes heart failure in embryos.

Type 1 vWD ( 60-80 % of all vWD cases ) is a quantitative defect which is heterozygous for the defective gene.

As opposed to drug-based approaches, gene therapy repairs the underlying genetic defect.

Nonclassical gene therapy inhibits the expression of genes related to pathogenesis, or corrects a genetic defect and restores normal gene expression.

In PNH a clonal defect in blood stem cells in the gene PIGA, that is required for GPI synthesis, results in faulty GPI linkage of decay-accelerating factor ( DAF ) and CD59 in red blood cells.

* Congenital anomaly, popularly referred to as a birth defect, a disorder present at birth, the result of an inherited gene mutation, an error during morphogenesis or fetal development, or an environmental factor

Genetic contributions are usually due to the additive effects of multiple genes however occasionally may be due to a single gene defect such as in the case of familial hypercholesterolaemia.

If a mutation occurs in this gene then PIGA may be defective, which leads to a defect in the GPI anchor.

Some collie breeds ( especially the Rough Collie and the Smooth Collie ) are affected by a genetic defect, a mutation within the MDR1 gene.

The defect of these proposals is in their attempt to outrun history and their assumption that because something may be desirable it is also possible.

We believe that autism, like so many other conditions of defect and deviation, is to a large extent inborn.

In New Jersey, for example, the Administrative Office of the Court has promulgated a form of notice of appeal for use by appellants, though using this exact form is not mandatory and the failure to use it is not a jurisdictional defect provided that all pertinent information is set forth in whatever form of notice of appeal is used.

It is part of the field of biomechatronics, the science of using mechanical devices with human muscle, skeleton, and nervous systems to assist or enhance motor control lost by trauma, disease, or defect.

The number of neutrons, N, is known as the neutron number of the atom ; thus, A = Z + N. Since protons and neutrons have approximately the same mass ( and the mass of the electrons is negligible for many purposes ), and the mass defect is usually very small compared to the mass, the atomic mass of an atom is roughly equal to A.

and Nagaoka himself recognized a fundamental defect in the theory even at its conception, namely that a classical charged object cannot sustain orbital motion because it is accelerating and therefore loses energy due to electromagnetic radiation.

Albinism ( from Latin albus, " white "; see extended etymology, also called achromia, achromasia, or achromatosis ) is a congenital disorder characterized by the complete or partial absence of pigment in the skin, hair and eyes due to absence or defect of tyrosinase, a copper-containing enzyme involved in the production of melanin.

Another common type of crystallographic defect is an impurity, meaning that the " wrong " type of atom is present in a crystal.

Twinning is a phenomenon somewhere between a crystallographic defect and a grain boundary.

Strict limits for how small a point defect is, are generally not defined explicitly, but typically these defects involve at most a few extra or missing atoms.

A vacancy ( or pair of vacancies in an ionic solid ) is sometimes called a Schottky defect.

* A nearby pair of a vacancy and an interstitial is often called a Frenkel defect or Frenkel pair.

This is neither a vacant site nor is the atom on an interstitial site and it is called a substitutional defect.

If one cube has an A atom at its center, the atom is on a site usually occupied by a B atom, and is thus an antisite defect.

He says that " we do not want to award the title of knowing something to someone who is only meeting the conditions through a defect, flaw, or failure, compared with someone else who is not meeting the conditions .".

The Court of Cassation quashed the sentence, through defect of form, and sent Babeuf for a new trial before the Aisne tribunal, which acquitted him on 18 July 1794, only days before the Thermidorian Reaction.

By far the most common hernias develop in the abdomen, when a weakness in the abdominal wall evolves into a localized hole, or " defect ", through which adipose tissue, or abdominal organs covered with peritoneum, may protrude.

Higher in the abdomen, an ( internal ) " diaphragmatic hernia " results when part of the stomach or intestine protrudes into the chest cavity through a defect in the diaphragm.

A hiatus hernia is a particular variant of this type, in which the normal passageway through which the esophagus meets the stomach ( esophageal hiatus ) serves as a functional " defect ", allowing part of the stomach to ( periodically ) " herniate " into the chest.

Hiatus hernias may be either " sliding ", in which the gastroesophageal junction itself slides through the defect into the chest, or non-sliding ( also known as para-esophageal ), in which case the junction remains fixed while another portion of the stomach moves up through the defect.

* Cooper's hernia: a femoral hernia with two sacs, the first being in the femoral canal, and the second passing through a defect in the superficial fascia and appearing almost immediately beneath the skin.

Systemic embolisms of venous origin can occur in patients with an atrial or ventricular septal defect, through which an embolus may pass into the arterial system.

But it is a defect to eat, like beasts, through the sole motive of sensual gratification, and without any reasonable object.

There are a number of alternatives proposed, including Robert Nozick's arguments for a requirement that knowledge ' tracks the truth ' and Simon Blackburn's additional requirement that we do not want to say that those who meet any of these conditions ' through a defect, flaw, or failure ' have knowledge.

In thalassemia, the disease is caused by the excessive destruction or degradation of red blood cells due to formation of abnormal hemoglobin molecules, because of a defect through a genetic mutation or deletion.

Measured results reveal that Peer Reviews produce an attractive return on investment obtained through accelerated learning and early defect detection.

At higher temperatures the diffusivity increases due to the direct temperature dependence of the equation, the increase in vacancies through Schottky defect formation, and an increase in the average energy of atoms in the material.

The lesion bleeds into the gastrointestinal tract through a minute defect in the mucosa which is not a primary ulcer of the mucosa but an erosion likely caused in the submucosal surface by protrusion of the pulsatile arteriole.

An umbilical hernia is also a defect in which abdominal contents come through weak abdominal wall muscle at the umbilicus.

An edge dislocation is a defect where an extra half-plane of atoms is introduced mid way through the crystal, distorting nearby planes of atoms.

In 1494 it was recorded that " Baldwin Lyndon-banks in ruins between Hawkesley Pole and Westhethe ... fined 2d " whilst the Abbot of Bordesley was fined 8d " through defect in cleansing the banks at West Hethe ".

Eisenmenger's syndrome ( or Eisenmenger's reaction or tardive cyanosis ) is defined as the process in which a left-to-right shunt caused by a congenital heart defect causes increased flow through the pulmonary vasculature, causing pulmonary hypertension, which in turn causes increased pressures in the right side of the heart and reversal of the shunt into a right-to-left shunt.

They were tasked to infiltrate through British lines and encourage units of the British Indian Army to defect.

Low-defect and zero defect products have become the reality for some developers and TSP teams, such as the Motorola division in Florida that achieved zero defects in over 18 projects through implementing PSP techniques.