Sentence examples for mutations causing congenital from inspiring English sources
This chapter provides molecular insights into acetylcholine receptor structure and function revealed by mutations causing congenital myasthenic syndromes (CMS).
This mutant was recovered in a large-scale mouse mutagenesis screen for mutations causing congenital heart defects (Shen et al., 2005; Yu et al., 2004).
The Mks1 mutant was recovered from a large-scale ethyl-nitroso-urea (ENU) mutagenesis screen using fetal echocardiography for cardiovascular phenotyping to recover mutations causing congenital heart disease (Yu et al., 2004; Shen et al., 2005).
Therefore, even if BSP does not result associated to the mutations causing Congenital Pseudomyotonia reported in other cattle breeds, our data suggest the involvement of the calcium signalling proteins and two C3 classes, the Neurotrophin signalling pathway and Amyotrophic lateral sclerosis.
Laminin α2 chain mutations cause congenital muscular dystrophy with dysmyelination neuropathy (MDC1A).
HYDIN is a novel gene and nearly-complete loss of its function due to mutations causes congenital hydrocephalus in mice [118].
Here we identify a fifth glycosylation gene, GMPPB, where mutations cause congenital myasthenic syndrome.
CYP11A1 mutations cause congenital adrenal insufficiency and with partial or complete 46,XY sex reversal in humans.
In particular, myotubularin 1 (mutationsations lead to X-linked myotubular myopathy (Beggs et al, 2010), and Jumpy (MTMR14) mutations cause congenital disease centronuclear myopathy (Vergne and Deretic, 2010).
PHOX2B is required for Ret expression in mouse pre-ENCDCs (154), and heterozygous PHOX2B polyalanine-expansion mutations cause congenital central hypoventilation syndrome (i.e., central sleep apnea) in humans, a syndrome that may include HSCR (Haddad syndrome) (2, 11).
Infertility is also commonly observed in patients with CF. 79 In males, CFTR mutations cause congenital bilateral absence of vas deferens or sperm abnormalities such as azoospermia, teratospermia, and oligospermia.
