Sulfonamide derivatives with benzothiazole scaffold: Synthesis and carbonic anhydrase I-II inhibition properties.

The secondary sulfonamide derivatives containing benzothiazole scaffold (1-10) were synthesized to determine their inhibition properties on two physiologically essential human carbonic anhydrases isoforms (hCAs, EC, 4.2.1.

Synthesis and characterization of novel acyl hydrazones derived from vanillin as potential aldose reductase inhibitors.

In the polyol pathway, aldose reductase (AR) catalyzes the formation of sorbitol from glucose. In order to detoxify some dangerous aldehydes, AR is essential. However, due to the effects of the active polyol pathway, AR overexpression in the hyperglycemic state leads to microvascular and macrovascular diabetic problems.

Effect of bone morphogenic protein-2 and desferoxamine on distraction osteogenesis.

Background: Angiogenesis is crucial for formation of a stable regenerate during distraction osteogenesis (DO). This experimental study evaluates if bone morphogenic protein-2 (BMP-2) and desferrioxamine (DFO), two agents which are known to induce neoangiogenesis in vivo, would increase angiogenesis and osteogenesis, and improve mechanical properties of bone regenerate in DO model.

Methods: Twenty-four tibias of 24 New Zealand rabbits were osteotomized and fixed with semi-circular fixators.

Synthesis, biological evaluation, and in silico study of novel library sulfonates containing quinazolin-4(3H)-one derivatives as potential aldose reductase inhibitors.

A series of novel sulfonates containing quinazolin-4(3H)-one ring derivatives was designed to inhibit aldose reductase (ALR2, EC 1.1.1.

Regioselective asymmetric bioreduction of trans-4-phenylbut-3-en-2-one by whole-cell of Weissella cibaria N9 biocatalyst.

There is a considerable interest in the asymmetric production of chiral allylic alcohols, the main building blocks of many functional molecules. The asymmetric reduction of α,β-unsaturated ketones is difficult with traditional chemical protocols in a regioselective and stereoselective manner. In this study, the reductive capacity of whole cell of Leuconostoc mesenteroides N6, Weissella paramesenteroides N7, Weissella cibaria N9, and Leuconostoc pseudomesenteroides N13 was investigated as whole-cell biocatalysts in the enantioselective reduction of (E)-4-phenylbut-3-en-2-one (1).

Biocatalytic asymmetric synthesis of (R)-1-tetralol using Lactobacillus paracasei BD101.

Asymmetric bioreduction of ketones is a fundamental process in the production of organic molecules. Compounds containing tetralone rings are found in the structure of many biologically active and pharmaceutical molecules. Biocatalytic reduction of ketones is one of the most promising and significant routes to prepare optically active alcohols.

A novel homozygous RIPK4 variant in a family with severe Bartsocas-Papas syndrome.

Bartsocas-Papas syndrome (BPS) is a rare autosomal recessive disorder characterized by popliteal pterygia, syndactyly, ankyloblepharon, filiform bands between the jaws, cleft lip and palate, and genital malformations. Most of the BPS cases reported to date are fatal either in the prenatal or neonatal period. Causative genetic defects of BPS were mapped on the RIPK4 gene encoding receptor-interacting serine/threonine kinase 4, which is critical for epidermal differentiation and development.

Finding underlying genetic mechanisms of two patients with autism spectrum disorder carrying familial apparently balanced chromosomal translocations.

Background: Genetic etiologies of autism spectrum disorders (ASD) are complex, and the genetic factors identified so far are very diverse. In complex genetic diseases such as ASD, de novo or inherited chromosomal abnormalities are valuable findings for researchers with respect to identifying the underlying genetic risk factors. With gene mapping studies on these chromosomal abnormalities, dozens of genes have been associated with ASD and other neurodevelopmental genetic diseases.

Synthesis of calix[4]azacrown substituted sulphonamides with antioxidant, acetylcholinesterase, butyrylcholinesterase, tyrosinase and carbonic anhydrase inhibitory action.

A series of novel calix[4]azacrown substituted sulphonamide Schiff bases was synthesised by the reaction of calix[4]azacrown aldehydes with different substituted primary and secondary sulphonamides. The obtained novel compounds were investigated as inhibitors of six human (h) isoforms of carbonic anhydrases (CA, EC 4.2.

Black phosphorus as a metal-free, visible-light-active heterogeneous photoredox catalyst for the direct C-H arylation of heteroarenes.

Black phosphorus (BP) is for the first time employed as a metal-free, heterogeneous photoredox catalyst for the direct C-H arylation of heteroarenes with aryl diazonium salts. The arylated heteroarenes are obtained in moderate to good yields under visible-light illumination, and the protocol is shown to be applicable for the scale-up synthesis.

RIPK4 suppresses the TGF-β1 signaling pathway in HaCaT cells.

Receptor-interacting serine/threonine kinase 4 (RIPK4) and transforming growth factor-β 1 (TGF-β1) play critical roles in the development and maintenance of the epidermis. A negative correlation between the expression patterns of RIPK4 and TGF-β signaling during epidermal homeostasis-related events and suppression of RIPK4 expression by TGF-β1 in keratinocyte cell lines suggest the presence of a negative regulatory loop between the two factors. So far, RIPK4 has been shown to regulate nuclear factor-κB (NF-κB), protein kinase C (PKC), wingless-type MMTV integration site family (Wnt), and (mitogen-activated protein kinase) MAPK signaling pathways.

Stress evolution of Ge nanocrystals in dielectric matrices.

Germanium nanocrystals (Ge NCs) embedded in single and multilayer silicon oxide and silicon nitride matrices have been synthesized using plasma enhanced chemical vapor deposition followed by conventional furnace annealing or rapid thermal processing in N ambient. Compositions of the films were determined by Rutherford backscattering spectrometry and x-ray photoelectron spectroscopy. The formation of NCs under suitable process conditions was observed with high resolution transmission electron microscope micrographs and Raman spectroscopy.

HLA-E*0101/0103X is Associated with Susceptibility to Pemphigus Vulgaris: A Case-control Study.

Pemphigus vulgaris (PV) is a life-threatening, autoimmune blistering disease of the skin and mucous membranes. The relationship between PV and human leukocyte antigen (HLA) has been studied in several reports. Previous reports have demonstrated that HLA-E polymorphisms may have a role in the susceptibility to various autoimmune diseases.

Analysis of centrosome and DNA damage response in PLK4 associated Seckel syndrome.

Microcephalic primordial dwarfism (MPD) is a group of autosomal recessive inherited single-gene disorders with intrauterine and postnatal global growth failure. Seckel syndrome is the most common form of the MPD. Ten genes are known with Seckel syndrome.

Leukoencephalopathy with thalamus and brainstem involvement and high lactate caused by novel mutations in the EARS2 gene in two siblings.

Leukoencephalopathy with thalamus and brainstem involvement, and high lactate (LTBL) is a recently identified disease related to mutations in the EARS2 gene encoding glutamyl-tRNA synthetase. We report clinical and radiological findings for two siblings with new pathogenic mutations in the EARS2 gene. Both patients showed symptoms of mild-type disease, but there were clinical differences between the two siblings.

Pyloric atresia-junctional epidermolysis bullosa syndrome showing novel c.4505-4508insACTC mutations in integrin b4 gene (ITGB4).

Epidermolysis bullosa (EB) is a group of inherited blistering skin diseases that vary widely in their pathogenesis and severity. It has been divided into distinct subtypes depending on the level of tissue separation in the dermal- epidermal basement membrane zone. There are four main categories of EB: simplex, junctional, dystrophic and Kindler syndrome.

Role of estrogen related receptor beta (ESRRB) in DFN35B hearing impairment and dental decay.

Background: Congenital forms of hearing impairment can be caused by mutations in the estrogen related receptor beta (ESRRB) gene. Our initial linkage studies suggested the ESRRB locus is linked to high caries experience in humans.

Methods: We tested for association between the ESRRB locus and dental caries in 1,731 subjects, if ESRRB was expressed in whole saliva, if ESRRB was associated with the microhardness of the dental enamel, and if ESRRB was expressed during enamel development of mice.

Antipsychotic medication use in nursing homes: a proposed measure of quality.

Objective: The potential misuse of antipsychotic medications (APMs) is an ongoing quality concern in nursing homes (NHs), especially given recent black box warnings and other evidence regarding the risk of APMs when used in NH populations. One mechanism regulators could use is public reporting of APM use by NHs; however, there is currently no agreed-upon measure of guideline-inconsistent APM use. In this paper, we describe a proposed measure of quality of APM use that is based on Centers for Medicare and Medicaid Services (CMS) Interpretive Guidelines, Food and Drug Administration (FDA) indications for APMs, and severity of behavioral symptoms.

Novel splice-site and missense mutations in the ALDH1A3 gene underlying autosomal recessive anophthalmia/microphthalmia.

Aim: This study aimed to identify the underlying genetic defect responsible for anophthalmia/microphthalmia.

Methods: In total, two Turkish families with a total of nine affected individuals were included in the study. Affymetrix 250 K single nucleotide polymorphism genotyping and homozygosity mapping were used to identify the localisation of the genetic defect in question.

Investigation of CYP21A2 mutations in Turkish patients with 21-hydroxylase deficiency and a novel founder mutation.

Congenital adrenal hyperplasia (CAH) is a group of autosomal recessively inherited disorders characterized by impaired production of adrenal steroids. Approximately 95% of all CAH are caused by mutations of the CYP21A2 that encodes 21-hydroxylase. In this study, mutation analyses of CYP21A2 were performed in 48 CAH patients from 45 Turkish families with the clinical diagnosis of 21-hydroxylase deficiency (21OHD).

Race, education, and the treatment of depression in nursing homes.

Objectives: We investigate, among older adult nursing home residents diagnosed with depression, whether depression treatment differs by race and schooling, and whether differences by schooling differ by race. We examine whether Blacks and less educated residents are placed in facilities providing less treatment, and whether differences reflect disparities in care.

Method: Data from the 2006 Nursing Home Minimum Data Set for 8 states (n = 124,431), are merged with facility information from the Online Survey Certification and Reporting system.

Mutations in RIPK4 cause the autosomal-recessive form of popliteal pterygium syndrome.

The autosomal-recessive form of popliteal pterygium syndrome, also known as Bartsocas-Papas syndrome, is a rare, but frequently lethal disorder characterized by marked popliteal pterygium associated with multiple congenital malformations. Using Affymetrix 250K SNP array genotyping and homozygosity mapping, we mapped this malformation syndrome to chromosomal region 21q22.3.

Penicillin induced epileptiform activity and EEG spectrum analysis of BDNF heterozygous mice: an in vivo electrophysiological study.

Brain-derived neurotrophic factor (BDNF) heterozygous mice (BDNF (+/-)) kindle slowly and have a higher seizure threshold. However, BDNF (+/-) mice exhibit reduced cortical inhibition and disrupted balance of excitation/inhibition synaptic transmission. We investigated penicillin-induced focal cortical epileptiform activity and electroencephalogram (EEG) spectral power of BDNF (+/-) mice, by using electrocorticogram (ECoG) recordings.

Diagnosis and treatment of depression in older community-dwelling adults: 1992-2005.

Objective: To examine evolving patterns of depression diagnosis and treatment in older U.S. adults in the era of newer-generation antidepressants.