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https://www.readbyqxmd.com/read/28346224/mutant-%C3%AE-2-chimaerin-signals-via-bidirectional-ephrin-pathways-in-duane-retraction-syndrome
#1
Alicia A Nugent, Jong G Park, Yan Wei, Alan P Tenney, Nicole M Gilette, Michelle M DeLisle, Wai-Man Chan, Long Cheng, Elizabeth C Engle
Duane retraction syndrome (DRS) is the most common form of congenital paralytic strabismus in humans and can result from α2-chimaerin (CHN1) missense mutations. We report a knockin α2-chimaerin mouse (Chn1KI/KI) that models DRS. Whole embryo imaging of Chn1KI/KI mice revealed stalled abducens nerve growth and selective trochlear and first cervical spinal nerve guidance abnormalities. Stalled abducens nerve bundles did not reach the orbit, resulting in secondary aberrant misinnervation of the lateral rectus muscle by the oculomotor nerve...
March 27, 2017: Journal of Clinical Investigation
https://www.readbyqxmd.com/read/28343983/comprehensive-cell-surface-protein-profiling-identifies-specific-markers-of-human-naive-and-primed-pluripotent-states
#2
Amanda J Collier, Sarita P Panula, John Paul Schell, Peter Chovanec, Alvaro Plaza Reyes, Sophie Petropoulos, Anne E Corcoran, Rachael Walker, Iyadh Douagi, Fredrik Lanner, Peter J Rugg-Gunn
Human pluripotent stem cells (PSCs) exist in naive and primed states and provide important models to investigate the earliest stages of human development. Naive cells can be obtained through primed-to-naive resetting, but there are no reliable methods to prospectively isolate unmodified naive cells during this process. Here we report comprehensive profiling of cell surface proteins by flow cytometry in naive and primed human PSCs. Several naive-specific, but not primed-specific, proteins were also expressed by pluripotent cells in the human preimplantation embryo...
March 21, 2017: Cell Stem Cell
https://www.readbyqxmd.com/read/28343757/clinical-utility-of-newly-developed-highly-purified-human-menopausal-gonadotrophins-a-randomized-controlled-trial
#3
Hwa Seon Koo, Hwang Kwon, Doo Seok Choi, Song Han, Jung Youn Seo, Kwang Moon Yang
The aim of this study was to evaluate the safety and efficacy of IVF-M HP, a newly developed highly purified human menopausal gonadotrophin preparation, for ovarian stimulation in women with infertility undergoing IVF, intracytoplasmic sperm injection (IVF-ICSI) and embryo transfer using a GnRH antagonist protocol. This was a multicentre, randomized, active-controlled, parallel design, open-label, non-inferiority clinical study. Of the 112 patients randomized for treatment using the GnRH antagonist protocol, 111 were treated...
March 1, 2017: Reproductive Biomedicine Online
https://www.readbyqxmd.com/read/28343564/embryos-of-non-native-anoles-are-robust-to-urban-thermal-environments
#4
Sarin Tiatragul, Audeline Kurniawan, Jason J Kolbe, Daniel A Warner
The transformation of natural habitats into urban landscapes dramatically alters thermal environments, which in turn, can impact local biota. Ectothermic organisms that are oviparous are particularly sensitive to these altered environments because their embryos cannot behaviorally thermoregulate and the surrounding environment determines the temperature experienced during development. We studied the effects of urban and forested thermal environments on embryo development and hatchling phenotypes in two non-native lizards (Anolis sagrei and A...
April 2017: Journal of Thermal Biology
https://www.readbyqxmd.com/read/28342438/-use-of-the-term-%C3%A2-pre-embryo%C3%A2-in-the-biomedical-literature-from-its-origin-to-the-present
#5
Modesto Ferrer Colomer, Luis Miguel Pastor
In this article, we present a review about the use of the term ″preembryo″ in the scientific literature as well as Bioethics from its origin, back in June 1979, to the end of the year 2014. We analyze their evolution along the time comparing with other terms commonly used in embryology. Also, we show the relevant journals in which this term appears, (offering the impact index within their specific field), and the authors who use it the most. The term ″preembryo″ arose in the scientific literature in 1979, remaining for about 6 years without reappearing in the scientific literature...
January 2017: Cuadernos de Bioética: Revista Oficial de la Asociación Española de Bioética y Ética Médica
https://www.readbyqxmd.com/read/28341363/a-gene-regulatory-program-controlling-early-xenopus-mesendoderm-formation-network-conservation-and-motifs
#6
REVIEW
Rebekah M Charney, Kitt D Paraiso, Ira L Blitz, Ken W Y Cho
Germ layer formation is among the earliest differentiation events in metazoan embryos. In triploblasts, three germ layers are formed, among which the endoderm gives rise to the epithelial lining of the gut tube and associated organs including the liver, pancreas and lungs. In frogs (Xenopus), where early germ layer formation has been studied intensively, the process of endoderm specification involves the interplay of dozens of transcription factors. Here, we review the interactions between these factors, summarized in a transcriptional gene regulatory network (GRN)...
March 21, 2017: Seminars in Cell & Developmental Biology
https://www.readbyqxmd.com/read/28340751/metal-oxide-based-dispersive-solid-phase-extraction-coupled-with-mass-spectrometry-analysis-for-determination-of-ribose-conjugates-in-human-follicular-fluid
#7
Jie-Mei Chu, Tai-Lang Yin, Shu-Jian Zheng, Jing Yang, Bi-Feng Yuan, Yu-Qi Feng
Polycystic ovary syndrome (PCOS) is the most common cause of anovulatory infertility. The pathogenesis of PCOS remains unclear and early diagnosis of PCOS is challenging. Follicular fluid provides a unique window in the critical processes during oocyte and follicular maturation, and the metabolic level of follicular fluid has important impact on the developmental potential of oocytes and subsequent embryos. Previous studies demonstrated some modified ribonucleosides in biological fluids were diseases related metabolites...
May 15, 2017: Talanta
https://www.readbyqxmd.com/read/28340569/an-immunohistochemical-enzymatic-and-behavioral-study-of-cd157-bst-1-as-a-neuroregulator
#8
Haruhiro Higashida, Mingkun Liang, Toru Yoshihara, Shirin Akther, Azam Fakhrul, Cherepanov Stanislav, Tae-Sik Nam, Uh-Hyun Kim, Satoka Kasai, Tomoko Nishimura, Naila Al Mahmuda, Shigeru Yokoyama, Katsuhiko Ishihara, Maria Gerasimenko, Alla Salmina, Jing Zhong, Takahiro Tsuji, Chiharu Tsuji, Olga Lopatina
BACKGROUND: Recent rodent and human studies provide evidence in support of the fact that CD157, well known as bone marrow stromal cell antigen-1 (BST-1) and a risk factor in Parkinson's disease, also meaningfully acts in the brain as a neuroregulator and affects social behaviors. It has been shown that social behaviors are impaired in CD157 knockout mice without severe motor dysfunction and that CD157/BST1 gene single nucleotide polymorphisms are associated with autism spectrum disorder in humans...
March 24, 2017: BMC Neuroscience
https://www.readbyqxmd.com/read/28340341/tridimensional-visualization-and-analysis-of-early-human-development
#9
Morgane Belle, David Godefroy, Gérard Couly, Samuel A Malone, Francis Collier, Paolo Giacobini, Alain Chédotal
Generating a precise cellular and molecular cartography of the human embryo is essential to our understanding of the mechanisms of organogenesis in normal and pathological conditions. Here, we have combined whole-mount immunostaining, 3DISCO clearing, and light-sheet imaging to start building a 3D cellular map of the human development during the first trimester of gestation. We provide high-resolution 3D images of the developing peripheral nervous, muscular, vascular, cardiopulmonary, and urogenital systems...
March 23, 2017: Cell
https://www.readbyqxmd.com/read/28337286/lps-induces-huvec-angiogenesis-in-vitro-through-mir-146a-mediated-tgf-%C3%AE-1-inhibition
#10
Yize Li, Huayu Zhu, Xu Wei, Heng Li, Zhicao Yu, Hongmei Zhang, Wenchao Liu
Angiogenesis is an essential process for tissue growth and embryo development. However, inflammation, abnormal wound healing, vascular diseases, and tumor development and progression can result from inappropriate angiogenesis. Lipopolysaccharide (LPS) can activate various cells and alter endothelium function and angiogenesis. This study investigated the underlying molecular events involved in LPS-induced angiogenesis and revealed a novel strategy for controlling abnormal angiogenesis. LPS treatment promoted wound healing and tube formation in human umbilical vein endothelial cell (HUVEC) cultures and induced their expression of miR-146a...
2017: American Journal of Translational Research
https://www.readbyqxmd.com/read/28336163/a-meta-analysis-of-the-impact-of-human-leukocyte-antigen-g-on-the-outcomes-of-ivf-icsi
#11
Ziru Niu, Liangyi Wang, Ronald T K Pang, Yifan Guo, William S B Yeung, Yuanqing Yao
This analysis was performed to determine whether the presence of soluble human leukocyte antigen-G (sHLA-G) in embryo culture medium is predictive of clinical outcomes in IVF treatment. The outcomes of implantation, clinical pregnancy, multiple pregnancy and miscarriage, between groups with and without sHLA-G in embryo culture media, were analysed. Fifteen studies with a total of 6170 cases were included. Ten of them were prospective studies while five were retrospective studies. Embryo culture media with sHLA-G were associated with significantly higher implantation rate and clinical pregnancy rate when compared with those without; the odd ratios (ORs) were 2...
March 14, 2017: Reproductive Biomedicine Online
https://www.readbyqxmd.com/read/28335020/znhit3-is-defective-in-peho-syndrome-a-severe-encephalopathy-with-cerebellar-granule-neuron-loss
#12
Anna-Kaisa Anttonen, Anni Laari, Maria Kousi, Yawei J Yang, Tiina Jääskeläinen, Mirja Somer, Eija Siintola, Eveliina Jakkula, Mikko Muona, Saara Tegelberg, Tuula Lönnqvist, Helena Pihko, Leena Valanne, Anders Paetau, Melody P Lun, Johanna Hästbacka, Outi Kopra, Tarja Joensuu, Nicholas Katsanis, Maria K Lehtinen, Jorma J Palvimo, Anna-Elina Lehesjoki
Progressive encephalopathy with oedema, hypsarrhythmia, and optic atrophy (PEHO) syndrome is an early childhood onset, severe autosomal recessive encephalopathy characterized by extreme cerebellar atrophy due to almost total granule neuron loss. By combining homozygosity mapping in Finnish families with Sanger sequencing of positional candidate genes and with exome sequencing a homozygous missense substitution of leucine for serine at codon 31 in ZNHIT3 was identified as the primary cause of PEHO syndrome. ZNHIT3 encodes a nuclear zinc finger protein previously implicated in transcriptional regulation and in small nucleolar ribonucleoprotein particle assembly and thus possibly to pre-ribosomal RNA processing...
March 1, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/28334989/impaired-fetal-muscle-development-and-jak-stat-activation-mark-disease-onset-and-progression-in-a-mouse-model-for-merosin-deficient-congenital-muscular-dystrophy
#13
Andreia M Nunes, Ryan D Wuebbles, Apurva Sarathy, Tatiana M Fontelonga, Marianne Deries, Dean J Burkin, Sólveig Thorsteinsdóttir
Merosin-deficient congenital muscular dystrophy type 1A (MDC1A) is a dramatic neuromuscular disease in which crippling muscle weakness is evident from birth. Here we use the dyW mouse model for human MDC1A to trace the onset of the disease during development in utero. We find that myotomal and primary myogenesis proceed normally in homozygous dyW-/-embryos. Fetal dyW-/-muscles display the same number of myofibers as wildtype muscles, but by E18.5 dyW-/-muscles are significantly smaller and muscle size is not recovered post-natally...
March 7, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28334846/dapl1-a-susceptibility-locus-for-age-related-macular-degeneration-acts-as-a-novel-suppressor-of-cell-proliferation-in-the-retinal-pigment-epithelium
#14
Xiaoyin Ma, Huirong Li, Yipin Wang, Jing Wang, Qinxiang Zheng, Jiajia Hua, Juan Yang, Li Pan, Fan Lu, Jia Qu, Ling Hou
The retinal pigment epithelium (RPE) forms a monolayer at the back of the vertebrate eye and is fundamental to retinal function and homoeostasis. During early development, RPE cells undergo rapid proliferation, but in the adult, they remain normally nonproliferative throughout life. Nevertheless, under pathological conditions such as in proliferative vitreoretinopathy or after retinal ablation, mature RPE cells can re-enter the cell cycle and form nodules or multiple cell layers. Here we show that Dapl1, whose human homolog represents a susceptibility locus for age-related macular degeneration (AMD), is highly up-regulated in quiescent but not proliferating RPE cells and that experimental overexpression of DAPL1 in proliferating RPE cells inhibits their proliferation...
February 22, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28334780/eif4a3-deficient-human-ipscs-and-mouse-models-demonstrate-neural-crest-defects-that-underlie-richieri-costa-pereira-syndrome
#15
Emily E Miller, Gerson S Kobayashi, Camila M Musso, Miranda Allen, Felipe A A Ishiy, Luiz C de Caires Junior, Ernesto S G Guimarães, Karina Griesi-Oliveira, Roseli M Zechi-Ceide, Antonio Richieri-Costa, Debora R Bertola, Maria Rita Passos-Bueno, Debra L Silver
Biallelic loss-of-function mutations in the RNA binding protein EIF4A3 cause Richieri-Costa-Pereira syndrome (RCPS), an autosomal recessive condition mainly characterized by craniofacial and limb malformations. However, the pathogenic cellular mechanisms responsible for this syndrome are entirely unknown. Here we used two complementary approaches, patient-derived induced pluripotent stem cells (iPSCs) and conditional Eif4a3 mouse models, to demonstrate that defective Neural Crest Cell (NCC) development explains RCPS craniofacial abnormalities...
March 2, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28333934/visualizing-the-structure-of-rna-seq-expression-data-using-grade-of-membership-models
#16
Kushal K Dey, Chiaowen Joyce Hsiao, Matthew Stephens
Grade of membership models, also known as "admixture models", "topic models" or "Latent Dirichlet Allocation", are a generalization of cluster models that allow each sample to have membership in multiple clusters. These models are widely used in population genetics to model admixed individuals who have ancestry from multiple "populations", and in natural language processing to model documents having words from multiple "topics". Here we illustrate the potential for these models to cluster samples of RNA-seq gene expression data, measured on either bulk samples or single cells...
March 2017: PLoS Genetics
https://www.readbyqxmd.com/read/28333280/hcg-activates-the-erk1-2-mitogen-activated-protein-kinase-pathway-in-human-endometrial-stromal-cells-transiently-increasing-the-progesterone-receptor-and-regulating-genes-associated-with-endometrial-receptivity
#17
Alejandro Tapia-Pizarro, Sebastián Archiles, Felipe Argandoña, Cecilia Valencia, Keyla Zavaleta, María Cecilia Johnson, Reinaldo González-Ramos, Luigi Devoto
STUDY QUESTION: How does hCG signal in human endometrial stromal cells (ESCs) and what is its role in regulating ESC function? SUMMARY ANSWER: CG signaling in ESCs activates the extracellular signal-regulated protein kinases 1 and 2 (Erk1/2) pathway through exchange protein activated by cAMP (Epac) and transiently increases progesterone receptor (PR) transcript and protein expression and its transcriptional function. WHAT IS KNOWN ALREADY: hCG is one of the earliest embryo-derived secreted signals in the endometrium, which abundantly expresses LH/hCG receptors...
March 14, 2017: Molecular Human Reproduction
https://www.readbyqxmd.com/read/28333245/euploidy-rates-in-donor-egg-cycles-significantly-differ-between-fertility-centers
#18
S Munné, M Alikani, L Ribustello, P Colls, Pedro A Martínez-Ortiz, D H McCulloh
STUDY QUESTION: Do external factors affect euploidy in egg donor cycles? SUMMARY ANSWER: The study demonstrates that during human assisted reproduction, embryonic chromosome abnormalities may be partly iatrogenic. WHAT IS KNOWN ALREADY: Chromosome abnormalities have been linked in the past to culture conditions such as temperature and Ph variations, as well as hormonal stimulation. Those reports were performed with older screening techniques (FISH), or ART methods no longer in use, and the subjects studied were not a homogeneous group...
March 2, 2017: Human Reproduction
https://www.readbyqxmd.com/read/28333028/embryo-stage-of-development-is-not-decisive-for-reproductive-outcomes-in-frozen-thawed-embryo-transfer-cycles
#19
Bruno R de Carvalho, Marina W Paes Barbosa, Helena Bonesi, David B Gomes, Íris O Cabral, Antônio C Paes Barbosa, Adelino A Silva, José R Iglesias, Hitomi M Nakagawa
OBJECTIVE: To evaluate if the outcomes of IVF/ICSI in frozen-thawed embryo transfer and fresh embryo transfer cycles differ in relation to cleavage and blastocyst stages. METHODS: Retrospective cohort study to compare IVF/ICSI outcomes between fresh embryo transfer and frozen-thawed embryo transfer cycles, according to the stage of embryo development. Analysis was carried out on 443 consecutive embryo transfer cycles performed between January 1st and December 31st, 2014...
February 1, 2017: JBRA Assisted Reproduction
https://www.readbyqxmd.com/read/28332949/public-attitudes-in-japan-towards-human-animal-chimeric-embryo-research-using-human-induced-pluripotent-stem-cells
#20
Tsutomu Sawai, Taichi Hatta, Misao Fujita
AIM: To understand the steps and objectives for which Japanese people are willing to accept human-animal chimeric embryo research using human induced pluripotent stem cells. METHODS: An internet-based survey was conducted for the general public and researchers in Japan in 2016. RESULTS: Over 60% of the public and 83.8% of researchers supported the creation of human-swine chimeras and 81.0% of the public and 92.4% of researchers supported the creation of human-swine chimeric embryos...
March 2, 2017: Regenerative Medicine
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