Muscle disease caused by mutations in the skeletal muscle alpha-actin gene (ACTA1)

JC Sparrow, KJ Nowak, HJ Durling, AH Beggs… - Neuromuscular …, 2003 - Elsevier
Mutations in the skeletal muscle alpha-actin gene (ACTA1) associated with congenital
myopathy with excess of thin myofilaments, nemaline myopathy and intranuclear rod …

Invertebrate muscles: muscle specific genes and proteins

SL Hooper, JB Thuma - Physiological reviews, 2005 - journals.physiology.org
This is the first of a projected series of canonic reviews covering all invertebrate muscle
literature prior to 2005 and covers muscle genes and proteins except those involved in …

Unwrapping glial biology: Gcm target genes regulating glial development, diversification, and function

MR Freeman, J Delrow, J Kim, E Johnson, CQ Doe - Neuron, 2003 - cell.com
Glia are the most abundant cell type in the mammalian brain. They regulate neuronal
development and function, CNS immune surveillance, and stem cell biology, yet we know …

Mutations in genes encoding fast-twitch contractile proteins cause distal arthrogryposis syndromes

SS Sung, AME Brassington, K Grannatt… - The American Journal of …, 2003 - cell.com
The distal arthrogryposes (DAs) are a group of disorders characterized by multiple
congenital contractures of the limbs. We previously mapped a locus for DA type 2B (DA2B) …

The haplolethal gene wupA of Drosophila exhibits potential as a target for an X-poisoning gene drive

CD Lawler, AKP Nuñez, N Hernandes… - G3: Genes …, 2024 - academic.oup.com
A synthetic gene drive that targets haplolethal genes on the X chromosome can skew the
sex ratio toward males. Like an “X-shredder,” it does not involve “homing,” and that has …

Molecular and cellular aspects of troponin cardiomyopathies

AV Gomes, JD Potter - Annals of the New York Academy of …, 2004 - Wiley Online Library
Advances in molecular genetics have led to the identification of mutations in each troponin
subunit that cause different human cardiomyopathies. Mutations in the genes for cardiac …

Genetics of the Drosophila flight muscle myofibril: a window into the biology of complex systems

JO Vigoreaux - Bioessays, 2001 - Wiley Online Library
This essay reviews the long tradition of experimental genetics of the Drosophila indirect
flight muscles (IFM). It discusses how genetics can operate in tandem with multidisciplinary …

Genetic Control of Muscle Diversification and Homeostasis: Insights from Drosophila

P Poovathumkadavil, K Jagla - Cells, 2020 - mdpi.com
In the fruit fly, Drosophila melanogaster, the larval somatic muscles or the adult thoracic flight
and leg muscles are the major voluntary locomotory organs. They share several …

Cellular and molecular aspects of familial hypertrophic cardiomyopathy caused by mutations in the cardiac troponin I gene

AV Gomes, JD Potter - Molecular and cellular biochemistry, 2004 - Springer
Mutations in the cardiac troponin I (CTnI) gene occur in∼ 5% of families with familial
hypertrophic cardiomyopathy (FHC) and 20 mutations in this gene that cause FHC have now …

Suppression of Muscle Hypercontraction by Mutations in the Myosin Heavy Chain Gene of Drosophila melanogaster

U Nongthomba, M Cummins, S Clark, JO Vigoreaux… - Genetics, 2003 - academic.oup.com
The indirect flight muscles (IFM) of Drosophila melanogaster provide a good genetic system
with which to investigate muscle function. Flight muscle contraction is regulated by both …