Publication

Mutations in RELT Cause Autosomal Recessive Amelogenesis Imperfecta.

Amelogenesis imperfecta (AI) is a collection of isolated (non‐syndromic) inherited diseases affecting dental enamel formation or a clinical phenotype in syndromic conditions. We characterized three consanguineous AI families with generalized irregular hypoplastic enamel with rapid attrition that perfectly segregated with homozygous defects in a novel gene: RELT that is a member of the tumor necrosis factor receptor superfamily (TNFRSF).

Autocrine regulation of mesenchymal progenitor cell fates orchestrates tooth eruption.

Formation of functional skeletal tissues requires highly organized steps of mesenchymal progenitor cell differentiation. The dental follicle (DF) surrounding the developing tooth harbors mesenchymal progenitor cells for various differentiated cells constituting the tooth root–bone interface and coordinates tooth eruption in a manner dependent on signaling by parathyroid hormone-related peptide (PTHrP) and the PTH/PTHrP receptor (PPR). However, the identity of mesenchymal progenitor cells in the DF and how they are regulated by PTHrP-PPR signaling remain unknown.

Epacadostat Plus Pembrolizumab in Patients With Advanced Solid Tumors: Phase I Results From a Multicenter, Open-Label Phase I/II Trial (ECHO-202/KEYNOTE-037).

Abstract
PURPOSE:
Tumors may evade immunosurveillance through upregulation of the indoleamine 2,3-dioxygenase 1 (IDO1) enzyme. Epacadostat is a potent and highly selective IDO1 enzyme inhibitor. The open-label phase I/II ECHO-202/KEYNOTE-037 trial evaluated epacadostat plus pembrolizumab, a programmed death protein 1 inhibitor, in patients with advanced solid tumors. Phase I results on maximum tolerated dose, safety, tolerability, preliminary antitumor activity, and pharmacokinetics are reported.

Distribution of bile acid receptor TGR5 in the gastrointestinal tract of dogs.

Takeda-G-protein-receptor-5 (TGR5) is a receptor for bile acids and its expression has been described in a variety of tissues and species. Characterization of TGR5 distribution and function has been investigated in drug discovery for the treatment of metabolic diseases in humans. Because dogs are one of the species used in biomedical research and share some similarities with human gastrointestinal diseases, the objective of this study was to characterize the distribution of TGR5 receptor in the canine species.

Endogenous Notch Signaling in Adult Kidneys Maintains Segment-Specific Epithelial Cell Types of the Distal Tubules and Collecting Ducts to Ensure Water Homeostasis.

Abstract Background Notch signaling is required during kidney development for nephron formation and principal cell fate selection within the collecting ducts. Whether Notch signaling is required in the adult kidney to maintain epithelial diversity, or whether its loss can trigger principal cell transdifferentiation (which could explain acquired diabetes insipidus in patients receiving lithium) is unclear.

Human papillomavirus infection and its biomarkers' expressions in laryngeal basaloid squamous cell carcinoma.

Abstract: Aims: To investigate the frequency and transcriptional activity of HPV and its correlation to p16 and p21
expression in basaloid squamous cell carcinoma (BSCC) of the larynx. Methods: We evaluated tissues from 29
patients with BSCC of the larynx for the expressions of p16 and p21 proteins by immunohistochemistry (IHC) and
for HPV E6 and E7 mRNA by RNA in situ hybridization (ISH). The presence of genotype-specific HPV DNA was evaluated using PCR-RDB in formalin-fixed paraffin-embedded tissues. P16 and p21 expression and HPV DNA status

Preliminary development of an assay for detection of TERT expression, telomere length, and telomere elongation in single cells.

The telomerase enzyme enables unlimited proliferation of most human cancer cells by elongating telomeres and preventing replicative senescence. Despite the critical importance of telomerase in cancer biology, challenges detecting telomerase activity and expression in individual cells have hindered the ability to study patterns of telomerase expression and function across heterogeneous cell populations. While sensitive assays to ascertain telomerase expression and function exist, these approaches have proven difficult to implement at the single cell level.

Persistence of Lassa Virus Associated With Severe Systemic Arteritis in Convalescing Guinea Pigs (Cavia porcellus).

Lassa fever (LF) survivors develop various clinical manifestations including polyserositis, myalgia, epididymitis, and hearing loss weeks to months after recovery from acute infection. We demonstrate a systemic lymphoplasmacytic and histiocytic arteritis and periarteritis in guinea pigs more than 2 months after recovery from acute Lassa virus (LASV) infection. LASV was detected in the arterial tunica media smooth muscle cells by immunohistochemistry, in situ hybridization, and transmission electron microscopy.

Considerations for Assessing the Extent of Hippocampal Neurogenesis in the Adult and Aging Human Brain

Adult hippocampal neurogenesis (AHN) is implicated in brain adaptations and disease pathogenesis. A seminal study showed adult-born neurons in the subgranular zone (SGZ) of the dentate gyrus (DG) in cancer patients 58–72 years of age, detecting bromodeoxyuridine co-localization with neuronal markers ( Eriksson et al., 1998 ). Subsequently, human AHN was reported using immunohistochemistry targeting markers expressed by neuronal cells at different maturational stages, in situ hybridization (ISH), and 14C decay-defined neuronal age ( Spalding et al., 2013 ).

The Long Noncoding RNA TTTY15, Which Is Located on the Y Chromosome, Promotes Prostate Cancer Progression by Sponging let-7.

Abstract
Background
The link between prostate cancer (PCa) development and aberrant expression of genes located on the Y chromosome remains unclear.

Objective
To identify Y-chromosomal long noncoding RNAs (lncRNAs) with critical roles in PCa and to clarify the corresponding mechanisms.

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