Investigation of HOTAIR rs12826786, rs920778 and rs4759314 Variants With Breast Cancer Susceptibility and Clinicopathological Characteristics in a Mexican Population.

Background: Breast cancer (BC) is a multifactorial disease of unknown etiology whose major risk factors are genetic alterations of cell proliferation and migration pathways. HOX transcript antisense RNA gene (HOTAIR) is a long noncoding RNA (lncRNA) related to cell proliferation, progression, invasion, metastasis, and poor survival of multiple cancers, including BC. Controversial results have emerged on the association between breast cancer risk in multiple ethnicities.

Association of CASP8 rs3834129 and CTGF rs6918698 genotypes with susceptibility to colorectal cancer in a Mexican population.

Connective tissue growth factor (CTGF) and Caspase 8 (CASP8) have been implicated in cancer development and progression. Variants such as CASP8 rs3834129 (-652 6N I/D) and CTGF rs6918698 (-945 C>G) have been associated with several cancers, although their association is still debated between populations. This study investigates the possible association between the CASP8 rs3834129 and CTGF rs6918698 variants with  colorectal cancer (CRC) in Mexican patients.

Functional Variants in MicroRNAs (rs895819, rs11614913 and rs2910164) Are Associated with Susceptibility and Clinicopathological Features in Mexican Patients with Colorectal Cancer.

Background: miRNAs are non-coding RNAs participating actively in the post-translational regulation of oncogenes, tumor suppressor, and DNA repair genes implicated in colorectal cancer (CRC). This study aims to examine the association of the variants (rs895819 A>G), (rs11614913 T>G) and (rs2910164 C>G) in Mexican CRC patients.

Methods: DNA samples from 183 patients and 186 healthy Mexican subjects were analyzed.

Genotypes and Haplotypes in the and Genes are Associated With Susceptibility and With Clinicopathological Characteristics in Breast Cancer Patients.

Breast cancer is a multifactorial disease whose genetic susceptibility is related to polymorphic variants of cell proliferation and migration pathways. Variants in and in the Wnt-β catenin pathway have been associated with different types of cancer; however, little is known about its role in breast cancer. This study tests the hypothesis of links between rs1133683 and rs2240308, and rs7903146 and rs12255372 variants in breast cancer.

Genomic Characterization of a Rare, de Novo Unbalanced ins(3;1)(p25.3;q21.3q23.3) in a Female Child with Multiple Congenital Anomalies.

"Simple" 1-way interchromosomal insertions involving an interstitial 1q segment are rare, and therefore, their characterization at the base pair level remains understudied. Here, we describe the genomic characterization of a previously unreported de novo interchromosomal insertion (3;1) entailing an about 12-Mb pure gain of 1q21.3q23.

Evaluation of Anti-Cytotoxic and Anti-Genotoxic Effects of through a Micronucleus Test in BALB/c Mice.

() is a medicinal plant used for its therapeutic pharmacological effects such as anti-inflammatory, antioxidant, anticancer, antidiabetic, and immunomodulation. This study explored the anti-cytotoxic and anti-genotoxic effect of through a micronucleus test (MNT) of BALB/c mice peripheral blood. Using 6-to-8-week-old healthy male BALB/c mice, four groups were formed: (1) Control (sterile water), single-dose 2 mg/kg/intraperitoneal (i.

Insulin glargine affects the expression of , , and genes in colon and liver of diabetic rats.

Objectives: The mitogenic effect of the analogous insulin glargine is currently under debate since several clinical studies have raised the possibility that insulin glargine treatment has a carcinogenic potential in different tissues. This study aimed to evaluate the , , and gene expression in colon and liver of streptozotocin-induced diabetic rats in response to insulin glargine, neutral protamine Hagedorn (NPH) insulin, and metformin treatments.

Materials And Methods: Male Wistar rats were induced during one week with streptozotocin to develop Type 2 Diabetes (T2D) and then randomly distributed into four groups.

Uncommon runs of homozygosity disclose homozygous missense mutations in two ciliopathy-related genes (SPAG17 and WDR35) in a patient with multiple brain and skeletal anomalies.

We describe a patient severely affected with multiple congenital anomalies, including brain malformations and skeletal dysplasia suggestive of cranioectodermal dysplasia (CED) ciliopathy, who unusually carries several homozygosity tracts involving homozygous missense mutations in SPAG17 (exon 8; c.1069G > C; p.Asp357His) and WDR35 (exon 13; c.

Molecular thrombophilic profile in Mexican patients with idiopathic recurrent pregnancy loss.

Idiopathic recurrent pregnancy loss (IRPL) is defined by three or more consecutive miscarriages occurring before the twentieth week of gestation as a result of unidentified etiological factors. The results of previous studies have indicated that prothrombotic factors play a pathogenic role in early and late pregnancy. This study aimed to identify inherited prothrombotic and hypofibrinolytic risk factors in Mexican-Mestizo patients with IRPL.

TCF7L2 and CCND1 polymorphisms and its association with colorectal cancer in Mexican patients.

Accumulative evidence suggests that alterations due to mutations or genetic polymorphisms in the TCF7L2 and CCND1 genes, which are components of the Wnt signaling pathway, contributes to carcinogenesis. The present study was designated to clarify whether common single nucleotide polymorphisms (SNPs) of the transcription factor 7- like 2 (TCF7L2) and cyclin D1 (CCND1) genes are associated with colorectal cancer risk in Mexican patients. A case-control study including 197 colorectal cancer patients and 100 healthy subjects was conducted in a Mexican population.

Evolution and genomics of the human brain.

Most living beings are able to perform actions that can be considered intelligent or, at the very least, the result of an appropriate reaction to changing circumstances in their environment. However, the intelligence or intellectual processes of humans are vastly superior to those achieved by all other species. The adult human brain is a highly complex organ weighing approximately 1500g, which accounts for only 2% of the total body weight but consumes an amount of energy equal to that required by all skeletal muscle at rest.

Epigenetic mechanisms in the development of memory and their involvement in certain neurological diseases.

Introduction: Today, scientists accept that the central nervous system of an adult possesses considerable morphological and functional flexibility, allowing it to perform structural remodelling processes even after the individual is fully developed and mature. In addition to the vast number of genes participating in the development of memory, different known epigenetic mechanisms are involved in normal and pathological modifications to neurons and therefore also affect the mechanisms of memory development.

Development: This study entailed a systematic review of biomedical article databases in search of genetic and epigenetic factors that participate in synaptic function and memory.

[Colorectal cancer (CCR): genetic and molecular alterations].

The aim of this review is to present a genetic and molecular overview of colorectal carcinogenesis (sporadic and hereditary origin) as a multistage process, where there are a number of molecular mechanisms associated with the development of colorectal cancer and genomic instability that allows the accumulation of mutations in proto-oncogenes and tumor suppressor genes, chromosomal instability, and methylation and microsatellite instability, and the involvement of altered expression of microRNAs' prognosis factors.

Neuhauser syndrome: a rare association of megalocornea and mental retardation. Review of the literature and further phenotype delineation.

Megalocornea can be observed as an isolated abnormality that is inherited by an X-linked mechanism, or it can be associated with other entities. Megalocornea-mental retardation syndrome, also known as Neuhauser syndrome, is a rare autosomal recessive congenital disorder that presents with megalocornea, mental retardation, hypotonia, and facial dysmorphism, among other signs. With the report of this new case, and after an extensive review of the literature, we attempt to delineate the Neuhauser syndrome phenotype.

[WNT-β-catenin signaling pathway and its relationship with cancer].

The Wnt-β-catenin signalling pathway plays a crucial role in the regulation, differentiation, proliferation and cellular death processes; consequently, alterations in this pathway are involved in numerous abnormalities of development, growth and homeostasis in animal organisms. Wnt proteins include a numerous family of secretion glycoproteins which join to Frizzled receptors and Low Density Lipoprotein Receptor-related Protein, in order to stabilize the critical β-catenin protein, and to initiate an intricate signaling cascade, which is related to multiple nucleocytoplasmatic processes. Alterations in the canonical Wnt-β-catenin signaling pathway have been associated with variations in a number of proteins participating in this route, or with activation / inactivation of oncogenes and tumor suppressor genes, which explain different processes of tumorigenesis, in addition to a number of malformations and human diseases.

[Alzheimer's disease and fragile X syndrome: the Wnt/ß-catenin pathway as a common biological mechanism].

Introduction: Various disorders affecting the canonical Wnt/ß-catenin signalling pathway have been related to the activation or inactivation of oncogenes and tumour suppressor genes that give rise to a number of well-defined neoplasias, as well as several genes involved in a growing group of complaints, including Alzheimer's disease (AD) and fragile X syndrome (FXS).

Aim: To examine the Wnt/ß-catenin signalling pathway as a possible common biological mechanism involved in the origin and development of neurodegenerative conditions and its relationship with cancer.

Development: We review the most recent biomedical literature dealing with the Wnt/ß-catenin signalling pathway and its participation in the genesis of complaints such as AD and FXS.

A novel mutation in CDMP1 causes brachydactyly type C with "angel-shaped phalanx". A genotype-phenotype correlation in the mutational spectrum.

Brachydactyly type C (BDC), a well-recognized autosomal dominant hand malformation, displays brachymesophalangy of the second, third, and fifth fingers, a short first metacarpal, hyperphalangy, and ulnar deviation of the index finger. An "angel-shaped phalanx" is a distinctive radiological sign that can be found in BDC and other skeletal dysplasias, such as angel-shaped phalango-epiphyseal dysplasia (ASPED), an autosomal dominant skeletal abnormality characterized by a typical angel-shaped phalanx, brachydactyly, specific radiological findings, abnormal dentition, hip dysplasia, and delayed bone age. BDC and ASPED result from mutations in the CDMP1 gene.

[Therapy of lysosomal storage diseases: update and perspectives].

Lysosomal storage diseases (LSD) are caused by monogenic mutations in genes coding for multiple aberrant proteins involved in the catabolism of complex lipids, glycosaminoglycans, oligosaccharides, or nucleic acids. The pathophysiology of the LSD is due to abnormal accumulation of non-hydrolyzed substrate in the lysosomes, affecting the architecture and function of cells, tissues and organs. Due to their genic and allelic heterogeneity the LSD present a wide clinical spectrum in severity of symptoms, evolution and age of onset.