Genetics in Reproductive Medicine.

Thanks to advances in technology, genetic testing is now available to explore the causes of infertility and to assess the risk of a given couple passing on a genetic disorder to their offspring. This allows at-risk couples to make an informed decision when opting for assisted reproduction and allows professionals to offer pre-implantation diagnosis when appropriate. Genetic screening of an infertile couple has thus become standard practice for an appropriate diagnosis, treatment, and prognostic assessment.

Endothelial nitric oxide synthase gene polymorphisms and erectile dysfunction in chronic pain.

Objectives: To investigate whether T786C, 4VNTR and G894 T gene polymorphisms could mediate in andrological treatment response in Spaniards.

Subject Patients/methods: The study participants were Spaniard males with erectile dysfunction (ED) and chronic pain ( = 105) recruited at the Pain Unit. polymorphisms were genotyped by quantitative polymerase chain reaction using Taqman specific probes.

Endothelial nitric oxide synthase gene polymorphisms and erectile dysfunction in chronic pain.

Objectives: To investigate whether endothelial nitric oxide synthase (eNOS) T786C, 4VNTR and G894 T gene polymorphisms could mediate in andrological treatment response in Spaniards.

Subject Patients/methods: The study participants were Spaniard males with erectile dysfunction (ED) and chronic pain (n = 105) recruited at the Pain Unit. eNOS polymorphisms were genotyped by quantitative polymerase chain reaction using Taqman specific probes.

Prenatal diagnosis and molecular cytogenetic characterization of a de novo duplication of 15q24.3-q26.1.

Reported cases of distal 15q interstitial duplications are uncommon and do not result in a recognizable pattern of abnormalities. Some studies report prenatal overgrowth, while others describe growth retardation. We present molecular cytogenetic characterization of a 14 Mb interstitial duplication, encompassing 81 Online Mendelian Inheritance in Man (OMIM) genes, in a fetus with single umbilical artery and short limbs.

Electromagnetic and Dynamic Mechanical Properties of Epoxy and Vinylester-Based Composites Filled with Graphene Nanoplatelets.

Development of epoxy or epoxy-based vinyl ester composites with improved mechanical and electromagnetic properties, filled with carbon-based nanomaterials, is of crucial interest for use in aerospace applications as radar absorbing materials at radio frequency. Numerous studies have highlighted the fact that the effective functional properties of this class of polymer composites are strongly dependent on the production process, which affects the dispersion of the nanofiller in the polymer matrix and the formation of micro-sized aggregations, degrading the final properties of the composite. The assessment of the presence of nanofiller aggregation in a composite through microscopy investigations is quite inefficient in the case of large scale applications, and in general provides local information about the aggregation state of the nanofiller rather than an effective representation of the degradation of the functional properties of the composite due to the presence of the aggregates.

Clinical and molecular characterization of a patient with a combination of a deletion and a duplication of 22q13 using array CGH.

Phelan-McDermid syndrome is caused by the loss of terminal regions of different sizes at 22q13. There is a wide range of severity of symptoms in patients with a 22q13 deletion, but these patients usually show neonatal hypotonia, global developmental delay, and dysmorphic traits. We carried out a clinical and molecular characterization of a patient with neonatal hypotonia and dysmorphic features.

Alteration of the shoot radial pattern in Arabidopsis thaliana by a gain-of-function allele of the class III HD-Zip gene INCURVATA4.

Class III HD-Zip (HD-Zip III) family genes play key roles in a number of fundamental developmental programs in Arabidopsis thaliana, such as embryo patterning, meristem initiation and homeostasis, lateral organ polarity and vascular development. Semidominant gain-of-function alleles of the HD-Zip III genes PHABULOSA (PHB), PHAVOLUTA (PHV) and REVOLUTA (REV) disrupt the negative regulation of these genes by a mechanism of microRNA interference. We provide evidence that the gain-of-function icu4-1 allele of INCURVATA4, a gene encoding the HD-Zip III transcription factor ATHB15/CORONA (CNA), stimulates the production of vascular tissues, supporting a role for ICU4 in promoting vascular development.

Common regulatory networks in leaf and fruit patterning revealed by mutations in the Arabidopsis ASYMMETRIC LEAVES1 gene.

Carpels and leaves are evolutionarily related organs, as the former are thought to be modified leaves. Therefore, developmental pathways that play crucial roles in patterning both organs are presumably conserved. In leaf primordia of Arabidopsis thaliana, the ASYMMETRIC LEAVES1 (AS1) gene interacts with AS2 to repress the class I KNOTTED1-like homeobox (KNOX) genes BREVIPEDICELLUS (BP), KNAT2 and KNAT6, restricting the expression of these genes to the meristem.

Mutations in the microRNA complementarity site of the INCURVATA4 gene perturb meristem function and adaxialize lateral organs in arabidopsis.

Here, we describe how the semidominant, gain-of-function icu4-1 and icu4-2 alleles of the INCURVATA4 (ICU4) gene alter leaf phyllotaxis and cell organization in the root apical meristem, reduce root length, and cause xylem overgrowth in the stem. The ICU4 gene was positionally cloned and found to encode the ATHB15 transcription factor, a class III homeodomain/leucine zipper family member, recently named CORONA. The icu4-1 and icu4-2 alleles bear the same point mutation that affects the microRNA complementarity site of ICU4 and is identical to those of several semidominant alleles of the class III homeodomain/leucine zipper family members PHABULOSA and PHAVOLUTA.