Bone mineral density (BMD) is a complex trait that is the single best predictor of the risk of osteoporotic fractures. Candidate gene and genome-wide association studies have identified genetic variations in approximately 30 genetic loci associated with BMD variation in humans. ?-Actinin-3 (ACTN3) is highly expressed in fast skeletal muscle fibres. There is a common null-polymorphism R577X in human ACTN3 that results in complete deficiency of the ?-actinin-3 protein in approximately 20% of Eurasians. Absence of ?-actinin-3 does not cause any disease phenotypes in muscle because of compensation by ?-actinin-2. However, ?-actinin-3 deficiency has been shown to be detrimental to athletic sprint/power performance. In this report we reveal addit...
α-Actinin-3 is a fast fibre Z-line protein that interacts with a wide array of structural, metabolic...
The human sarcomeric α-actinins (ACTN2 and ACTN3) are major structural components of the Z line in s...
α-Actinin-3 is primarily expressed in fast (Type II) fibers in the human skeletal muscle. Over 70% o...
Bone mineral density (BMD) is a complex trait that is the single best predictor of the risk of osteo...
Bone mineral density (BMD) is a complex trait that is the single best predictor of the risk of osteo...
There is a large individual variation in the bone remodelling markers (BRMs) osteocalcin (OC), proco...
Obesity is a worldwide health crisis, and the identification of genetic modifiers of weight gain is ...
Deficiency of the fast-twitch muscle protein α-actinin-3 due to homozygosity for a nonsense polymorp...
A common null polymorphism (R577X) in ACTN3 causes α-actinin-3 deficiency in ~18% of the global popu...
Homozygosity for the common ACTN3 null polymorphism (ACTN3 577X) results in α-actinin-3 deficiency i...
A common null polymorphism in the ACTN3 gene (rs1815739:C>T) results in replacement of an arginine (...
As human longevity increases, recent research has focused on the maintenance of optimal health durin...
Approximately one billion people worldwide are homozygous for a stop codon polymorphism in the ACTN3...
A common nonsense polymorphism (R577X) in the ACTN3 gene results in complete deficiency of the fast ...
The alpha-actinin 3 (ACTN3) gene encodes a protein of the Z disk of myofibers, and a polymorphism of...
α-Actinin-3 is a fast fibre Z-line protein that interacts with a wide array of structural, metabolic...
The human sarcomeric α-actinins (ACTN2 and ACTN3) are major structural components of the Z line in s...
α-Actinin-3 is primarily expressed in fast (Type II) fibers in the human skeletal muscle. Over 70% o...
Bone mineral density (BMD) is a complex trait that is the single best predictor of the risk of osteo...
Bone mineral density (BMD) is a complex trait that is the single best predictor of the risk of osteo...
There is a large individual variation in the bone remodelling markers (BRMs) osteocalcin (OC), proco...
Obesity is a worldwide health crisis, and the identification of genetic modifiers of weight gain is ...
Deficiency of the fast-twitch muscle protein α-actinin-3 due to homozygosity for a nonsense polymorp...
A common null polymorphism (R577X) in ACTN3 causes α-actinin-3 deficiency in ~18% of the global popu...
Homozygosity for the common ACTN3 null polymorphism (ACTN3 577X) results in α-actinin-3 deficiency i...
A common null polymorphism in the ACTN3 gene (rs1815739:C>T) results in replacement of an arginine (...
As human longevity increases, recent research has focused on the maintenance of optimal health durin...
Approximately one billion people worldwide are homozygous for a stop codon polymorphism in the ACTN3...
A common nonsense polymorphism (R577X) in the ACTN3 gene results in complete deficiency of the fast ...
The alpha-actinin 3 (ACTN3) gene encodes a protein of the Z disk of myofibers, and a polymorphism of...
α-Actinin-3 is a fast fibre Z-line protein that interacts with a wide array of structural, metabolic...
The human sarcomeric α-actinins (ACTN2 and ACTN3) are major structural components of the Z line in s...
α-Actinin-3 is primarily expressed in fast (Type II) fibers in the human skeletal muscle. Over 70% o...