Significats de recessive mutations en anglès

The benefits of diploidy are considered to involve masking partially recessive mutations and increasing genetic diversity.

It is most likely that imprinted gene(s) rather than recessive mutations cause the common phenotype.

In many populations, loss-of-function recessive mutations of TMC1 are associated with profound deafness across all frequencies tested.

Here, we report 26 patients from 12 families with recessive mutations in ADCK4.

Mice with autosomal recessive mutations in the same gene have recently been shown to have a strikingly similar phenotype.

A genetic screen for recessive mutations in this region recovered thirteen lines with phenotypes relevant to a variety of clinical conditions.

The condition was recently described to result from autosomal recessive mutations in XYLT1, encoding the enzyme xylosyltransferase-1.

We describe three patients from two families (from Australia and the UK) with a myopathy caused by recessive mutations in MYH7.

Trio-based whole-exome sequencing and targeted re-sequencing identified recessive mutations of CRADD in six individuals with TLIS from four unrelated families of diverse ethnic backgrounds.

Nuclear recessive mutations at the chloroplast mutator (CHM) locus of Arabidopsis produce a variegated phenotype that is inherited in a non-Mendelian fashion.

This strongly suggests the presence of additional recessive mutations that are not detected by current GJB2 mutation and GJB6 deletion analyses.

This LOH is believed to unmask recessive mutations that inactivate a tumor-suppressor gene(s) which otherwise regulates normal cell growth and suppresses abnormal cell proliferation.

In this study, we describe 16 novel recessive mutations of MYO15A associated with severe to profound hearing loss segregating in 20 of these DFNB3-linked families.

Recessive mutations in RYR1 are a relatively common cause of CFTD and can be associated with extreme fiber size disproportion.

Recessive mutations in KIF1A were previously described in families with spastic paraparesis or sensory and autonomic neuropathy type-2.

Recessive mutations of MYO15A are associated with profound, nonsyndromic hearing loss DFNB3 in humans, and deafness and circling behavior in shaker 2 mice.