Background: Different alleles of Fragile X Mental Retardation1 (FMR1) gene with separate molecular etiologies cause Fragile X Syndrome (FXS) and Fragile X-associated Tremor and Ataxia Syndrome (FXTAS). Premutation alleles with 55 to 200 repeats in the FMR1 gene lead to FXTAS. It is carried by 1 in 209 women and 1 in 430 men. FXTAS commonly appears in 50- to 70-year-old adults. Case Presentatio...

Hao-Fountain syndrome (HAFOUS) is a rare neurodevelopmental disorder caused by mutations in the ubiquitin-specific protease 7 (USP7) gene for endosomal recycling. The diagnosis often challenging due to nonspecific presentation of intellectual disability and developmental delay, accompanied dysmorphic facies. In this case, we present an 18-year-old female with (ID), attention-deficit/hyperactivi...

The paper reports on the breeding biology of the endemic subspecies of the Grey Wagtail in a human transformed area (banana plantations) on Tenerife (Canary Islands). Clutch size (3.96 ± 0.6) was lower than in continental zones, probably because of the climatic stability of the islands. Furthermore, the distance from the nest to the nearest water source and the length of the breeding season (la...

Genome-wide genotyping data regarding breeding materials are essential resources for improving breeding efficiency, especially in plants with complex genomes with a high degree of polyploidy. Several current breeding efforts in cultivated peanut ( L.), which has a tetraploid genome, are devoted to developing high oleic acid cultivars. Genetic maps for such breeding programs have been developed ...

Straightbred and crossbred heifers (165) and cows (241) that were nonpregnant after exposure to fertile bulls for two consecutive breeding periods of 45 to 60 d (repeat breeders) and contemporary cows (102) that had produced a calf in the previous calving season (controls) were placed with bulls and were observed for mating. Repeat-breeder and control females were slaughtered at 2 to 51 d postm...

This review is an overview of traditional and modern breeding methodologies being used to develop new Prunus cultivars (stone fruits) with major emphasis on peach, sweet cherry and Japanese plum. To this end, common breeding tools used to produce seedlings, including in vitro culture tools, are discussed. Additionally, the mechanisms of inheritance of many important agronomical traits are descr...

UNLABELLED PREMISE OF THE STUDY Tung tree, Vernicia fordii, is native to China. Little has been done on genetics and breeding at the molecular level in this species, let alone utilizing microsatellite (simple sequence repeat [SSR]) markers. Therefore, a set of SSR molecular markers was developed for studies on molecular genetics and breeding in tung tree. • METHODS AND RESULTS We designed ...

Kennedy disease is caused by an enlarged trinucleotide repeat sequence within the androgen receptor gene. We report here seven male patients with a benign motor neuron syndrome highly analogous to Kennedy disease but with a normal trinucleotide repeat.

The R6/2 mouse is the most frequently used model for experimental and preclinical drug trials in Huntington's disease (HD). When the R6/2 mouse was first developed, it carried exon 1 of the huntingtin gene with ~150 cytosine-adenine-guanine (CAG) repeats. The model presented with a rapid and aggressive phenotype that shared many features with the human condition and was particularly similar to ...