Results 161 to 170 of about 239,120 (310)
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Inherited retinal dystrophies (IRDs) inherited are visually disabling monogenic diseases with remarkable genetic and phenotypic heterogeneity. Mutations in more than 300 different genes have been identified as disease‐causing. The genetic diagnosis of IRDs has significantly advanced with the integration of Next Generation Sequencing (NGS ...
Gerardo E. Fabian‐Morales +6 more
wiley +1 more source
Maximum likelihood (ML) estimators for scaled mutation parameters with a strand symmetric mutation model in equilibrium [PDF]
arXiv, 2019 With the multiallelic parent-independent mutation-drift model, the equilibrium proportions of alleles are known to be Dirichlet distributed. A special case is the biallelic model, in which the proportions are beta distributed. A sample taken from these models is then Dirichlet-multinomially or beta-binomially distributed, respectively.
arxiv
INFLUENCE OF TAQI POLYMORPHISM IN MELANOCORTIN RECEPTOR (MC4R) ON PIG SLAUGHTERING TRAITS [PDF]
Poljoprivreda, 2009 The aim of the research was to determine the influence of polymorphism in MC4R genes on slaughtering traits. The research was carried out on 60 crossbreeds of Large White and German Landrace in the dam line and of Duroc in the sire line.
Vladimir Margeta +3 more
doaj
The age incidence of any cancer can be explained by a one-mutation model [PDF]
arXiv, 2008 We propose a one mutation model for cancer with a mutation rate that increases with time. Under rather general hypotheses the number of mutations is necessarily a (non homogeneous) Poisson process with the prescribed mutation rate. We show that the cumulative probability of cancer up to time $t$ is, up to a multiplicative constant, an antiderivative of
arxiv
Annals of Neurology, EarlyView.Objective Gain‐of‐function (GoF) variants in KCNT1 encoding for potassium channels are associated with different epilepsy phenotypes, including epilepsy of infancy with migrating focal seizures (EIMFS), other early infantile developmental and epileptic encephalopathies, and focal epilepsy.
Marina Trivisano +13 more
wiley +1 more source
Interference effects of deleterious and beneficial mutations in large asexual populations [PDF]
Genetics 211, 1357-1369 (2019), 2018 Linked beneficial and deleterious mutations are known to decrease the fixation probability of a favorable mutation in large asexual populations. While the hindering effect of strongly deleterious mutations on adaptive evolution has been well studied, how weak deleterious mutations, either in isolation or with superior beneficial mutations, influence ...
arxiv
Annals of Neurology, EarlyView.Objective Vascular NOTCH3 protein ectodomain aggregation is a pathological hallmark of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), a monogenic small vessel disease typically caused by cysteine‐altering variants in NOTCH3.
Minne N. Cerfontaine +10 more
wiley +1 more source
Autosomal Recessive Cerebellar Ataxias: Translating Genes to Therapies
Annals of Neurology, EarlyView.Autosomal recessive cerebellar ataxias are disabling neurodegenerative genetic conditions affecting balance and coordination. Advancements in genomic testing have improved diagnosis, leading to a new focus on the development of targeted precision therapeutics addressing cellular, biochemical, and genetic disease mechanisms with a resulting emphasis on ...
Brent L. Fogel +10 more
wiley +1 more source
Clinical case seminar - Hypogonadotropic hypogonadism as a presenting feature of late-onset X-linked adrenal hypoplasia congenita [PDF]
, 2002 Mutations in the orphan nuclear receptor DAX-1 cause X-linked adrenal hypoplasia congenita. Affected boys usually present with primary adrenal failure in early infancy or childhood.
Achermann, JC +8 more
core
HCN2‐Associated Neurodevelopmental Disorders: Data from Patients and Xenopus Cell Models
Annals of Neurology, EarlyView.Objective We aimed to characterize the phenotypic spectrum and functional consequences associated with variants in HCN2, encoding for the hyperpolarization‐activated cyclic nucleotide (HCN) gated channel 2. Methods GeneMatcher facilitated the recruitment of 21 individuals with HCN2 variants from 15 unrelated families, carrying HCN2 variants.
Clara Houdayer +52 more
wiley +1 more source