PITX2 expression and Neanderthal introgression in HS3ST3A1 contribute to variation in tooth dimensions in modern humans.

Dental morphology varies greatly throughout evolution, including in the human lineage, but little is known about the biology of this variation. Here, we use multiomics analyses to examine the genetics of variation in tooth crown dimensions. In a human cohort with mixed continental ancestry, we detected genome-wide significant associations at 18 genome regions.

3D meshes dataset of sagittal otoliths from red mullet in the Mediterranean Sea.

This paper presents a dataset of 3D sagittal left otolith meshes from 339 individual red mullet (Mullus barbatus). These immature specimens were collected from 17 geographical areas covering the entire Mediterranean Sea. Measured biological parameters were: fish total length (TL ± 1 mm, range from 125 to 238 mm), total weight (W ± 0.

A Comparison of Parent Reports, the Mental Synthesis Evaluation Checklist (MSEC) and the Autism Treatment Evaluation Checklist (ATEC), with the Childhood Autism Rating Scale (CARS).

This study compares two parent reports, the Mental Synthesis Evaluation Checklist (MSEC) and the Autism Treatment Evaluation Checklist (ATEC), with the Childhood Autism Rating Scale (CARS). The ATEC consists of four subscales, as follows: (1) expressive language, (2) sociability, (3) sensory awareness, and (4) health. The MSEC is complementary to the ATEC in measuring complex language comprehension.

Substrate-Dependent Galvanotaxis of Directly Reprogrammed Human Neural Precursor Cells.

Neural precursor cells (NPCs) hold great promise for neural repair. Endogenous NPCs, found in the subventricular zone of the adult brain, proliferate and migrate toward lesion sites; however, it is not sufficient for neural repair. NPCs are electrosensitive cells that undergo directed migration in an electric field (EF).

A GWAS in Latin Americans identifies novel face shape loci, implicating VPS13B and a Denisovan introgressed region in facial variation.

To characterize the genetic basis of facial features in Latin Americans, we performed a genome-wide association study (GWAS) of more than 6000 individuals using 59 landmark-based measurements from two-dimensional profile photographs and ~9,000,000 genotyped or imputed single-nucleotide polymorphisms. We detected significant association of 32 traits with at least 1 (and up to 6) of 32 different genomic regions, more than doubling the number of robustly associated face morphology loci reported until now (from 11 to 23). These GWAS hits are strongly enriched in regulatory sequences active specifically during craniofacial development.

Disentangling the effect of host genetics and gut microbiota on resistance to an intestinal parasite.

Resistance to infection is a multifactorial trait, and recent work has suggested that the gut microbiota can also contribute to resistance. Here, we performed a fecal microbiota transplant to disentangle the contribution of the gut microbiota and host genetics as drivers of resistance to the intestinal nematode Heligmosomoides polygyrus. We transplanted the microbiota of a strain of mice (SJL), resistant to H.

Role of Molecular Recognition in l-Cystine Crystal Growth Inhibition.

l-Cystine kidney stones-aggregates of single crystals of the hexagonal form of l-cystine-afflict more than 20 000 individuals in the United States alone. Current therapies are often ineffective and produce adverse side effects. Recognizing that the growth of l-cystine crystals is a critical step in stone pathogenesis, real-time in situ atomic force microscopy of growth on the (0001) face of l-cystine crystals and measurements of crystal growth anisotropy were performed in the presence of prospective inhibitors drawn from a 31-member library.

l-Cystine Diamides as l-Cystine Crystallization Inhibitors for Cystinuria.

l-Cystine bismorpholide (1a) and l-cystine bis(N'-methylpiperazide) (1b) were seven and twenty-four times more effective than l-cystine dimethyl ester (CDME) in increasing the metastable supersaturation range of l-cystine, respectively, effectively inhibiting l-cystine crystallization. This behavior can be attributed to inhibition of crystal growth at microscopic length scale, as revealed by atomic force microscopy. Both 1a and 1b are more stable than CDME, and 1b was effective in vivo in a knockout mouse model of cystinuria.

Efficacy of corn silage inoculants on the fermentation quality under farm conditions and their influence on Aspergillus parasitucus, A. flavus and A. fumigatus determined by q-PCR.

Laboratory-scale silos were prepared to evaluate the efficacy of two different lactic acid bacteria (LAB) on the fermentation quality and mycobiota of corn silage. Their influence on Aspergillus species' variability by using the q-PCR technique was studied. Silage inoculated with Lactobacillus rhamnosus RC007 or L.

Genotoxicity and cytotoxicity evaluation of probiotic Saccharomyces cerevisiae RC016: a 60-day subchronic oral toxicity study in rats.

Aims: To acquire data on the safety-in-use of the probiotic Saccharomyces cerevisiae RC016 and test its ability to reduce genotoxicity caused by dietary aflatoxins (AFs).

Methods And Results: The probiotic was orally administered to Wistar rats. Six groups (n = 6) were arranged: feed and probiotic controls, two levels of AFs-contaminated feed and two treatments including both the probiotic and the toxin.

Pain-patient Minnesota Multiphasic Personality Inventory (MMPI) subgroups: evaluation of long-term treatment outcome.

Six hundred thirty-five chronic pain patients completed the Minnesota Multiphasic Personality Inventory (MMPI) prior to participation in a multidisciplinary inpatient pain treatment program. Three male and four female MMPI subgroups were identified by means of cluster analyses for each of two samples. Pretreatment and long-term follow-up differences were then examined among the MMPI subgroups.

Duplication of the short arm of chromosome 9. Analysis of five cases.

Five females with duplication of the short arm of one chromosome 9 are reported, one tetrasomic and four trisomic for 9p. The tetrasomy is due to an isochromosome 9p while the trisomies are due in one case to an intrachromosomal duplication present in lymphocytes but not in fibroblasts, two are secondary to translocations with chromosomes 22 and 13 respectively, and one is a mosaic with a cell line with an additional deleted chromosome 9 present in lymphocytes and fibroblasts. This analysis indicates that duplications 9p may result in impairment of ovarian function.

Preferential maternal derivation in inv dup(15): analysis of eight new cases.

Eight patients are reported with a de novo extra inverted duplicated chromosome 15. The abnormal chromosome was considered to be the same in all cases, but its precise delineation remained uncertain and was defined as either 15pter leads to 15q12::15q12 leads to 15pter or 15pter leads to 15q11::15q13 leads to 15pter. Analysis with various techniques of the satellite regions of the bisatellited chromosomes demonstrated maternal derivation in six and paternal derivation in one of the seven families.

Ring chromosome and latent centromeres.

A ring 12 chromosome was found in a male child with minor phenotypic alterations. No obvious loss of chromosome material was detected. Since there is no other case of a ring 12 in the literature, it was not possible to determine whether the phenotype was due to (invisible) terminal deletions or to karyotypic variation.