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https://www.readbyqxmd.com/read/27925688/rare-deleterious-pard3-variants-in-the-apkc-binding-region-are-implicated-in-the-pathogenesis-of-human-cranial-neural-tube-defects-via-disrupting-apical-tight-junction-formation
#1
Xiaoli Chen, Yu An, Yonghui Gao, Liu Guo, Lei Rui, Hua Xie, Mei Sun, Siv Lam Hung, Xiaoming Sheng, Jizhen Zou, Yihua Bao, Hongyan Guan, Bo Niu, Zandong Li, Richard H Finnell, James F Gusella, Bai-Lin Wu, Ting Zhang
Increasing evidence that mutation of planar cell polarity (PCP) genes contributes to human cranial NTD susceptibility prompted us to hypothesize that rare variants of genes in the core apical-basal polarity (ABP) pathway are risk factors for cranial NTDs. In this study, we screened for rare genomic variation of PARD3 in 138 cranial NTD cases and 274 controls. Overall, the rare deleterious variants of PARD3 were significantly associated with increased risk for cranial NTDs (11/138 vs.7/274, p<0.05, OR = 3...
December 7, 2016: Human Mutation
https://www.readbyqxmd.com/read/27924807/genetic-and-molecular-analyses-indicate-independent-effects-of-tgifs-on-nodal-and-gli3-in-neural-tube-patterning
#2
Kenichiro Taniguchi, Anoush E Anderson, Tiffany A Melhuish, Anne L Carlton, Arkadi Manukyan, Ann E Sutherland, David Wotton
Holoprosencephaly (HPE) is a prevalent craniofacial developmental disorder that has both genetic and environmental causes. The gene encoding TG-interacting factor 1 (TGIF1) is among those that are routinely screened in HPE patients. However, the mechanisms by which TGIF1 variants cause HPE are not fully understood. TGIF1 is a transcriptional repressor that limits the output of the Transforming Growth Factor ß (TGFß)/Nodal signaling pathway, and HPE in patients with TGIF1 variants has been suggested to be due to increased Nodal signaling...
December 7, 2016: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/27924730/congenital-malformations-attributed-to-prenatal-exposure-to-cyclophosphamide
#3
Padmanabhan Rengasamy
Cyclophosphamide (CPA) remains one of the most widely prescribed anticancer drugs. It is also used in the treatment of rheumatoid arthritis, childhood nephrotic syndrome and systemic lupus erythematosus. It is a potent immunosuppressive agent. It is commonly used in blood and bone marrow transplantation. With the growing trend among women postponing childbearing, the number of women who are diagnosed with breast cancer is also increasing thus escalating the chances of exposure of the unborn child to antineoplastic drugs...
December 6, 2016: Anti-cancer Agents in Medicinal Chemistry
https://www.readbyqxmd.com/read/27924460/proteomic-profile-of-maternal-aged-blastocoel-fluid-suggests-a-novel-role-for-ubiquitin-system-in-blastocyst-quality
#4
Gabriella Tedeschi, Elena Albani, Elena Monica Borroni, Valentina Parini, Anna Maria Brucculeri, Elisa Maffioli, Armando Negri, Simona Nonnis, Mauro Maccarrone, Paolo Emanuele Levi-Setti
PURPOSE: The etiology of maternal aging, a common cause of female factor infertility and a rate-limiting step in vitro fertilization (IVF) success, remains still unclear. Proteomic changes responsible for the impaired successful pregnancy outcome after IVF with aged blastocysts have not been yet evaluated. The objective of this prospective study was to employ proteomic techniques and bioinformatic tools to enlight differences at the protein level in blastocoel fluid of aged and younger woman...
December 6, 2016: Journal of Assisted Reproduction and Genetics
https://www.readbyqxmd.com/read/27921090/the-effect-of-intrauterine-human-chorionic-gonadotropin-injection-before-embryo-transfer-on-the-implantation-and-pregnancy-rate-in-infertile-patients-a-randomized-clinical-trial
#5
Razieh Dehghani Firouzabadi, Sima Janati, Mohammad Hossein Razi
BACKGROUND: Implantation is one of the essential steps for the success of assisted reproductive techniques (ART). Their success depends on three main factors: embryo quality, endometrial receptivity (ER), and synchrony between embryo and endometrium. There are various factors that regulate the complex process of implantation. In this regard, one may refer to human chorionic gonadotropin (hCG) as the most important factor. OBJECTIVE: This study aims to investigate the effect of intrauterine hCG injection before embryo transfer (ET) on pregnancy outcome in infertile couples...
October 2016: International Journal of Reproductive Biomedicine (Yazd, Iran)
https://www.readbyqxmd.com/read/27919073/mitochondrial-replacement-in-human-oocytes-carrying-pathogenic-mitochondrial-dna-mutations
#6
Eunju Kang, Jun Wu, Nuria Marti Gutierrez, Amy Koski, Rebecca Tippner-Hedges, Karen Agaronyan, Aida Platero-Luengo, Paloma Martinez-Redondo, Hong Ma, Yeonmi Lee, Tomonari Hayama, Crystal Van Dyken, Xinjian Wang, Shiyu Luo, Riffat Ahmed, Ying Li, Dongmei Ji, Refik Kayali, Cengiz Cinnioglu, Susan Olson, Jeffrey Jensen, David Battaglia, David Lee, Diana Wu, Taosheng Huang, Don P Wolf, Dmitry Temiakov, Juan Carlos Izpisua Belmonte, Paula Amato, Shoukhrat Mitalipov
Maternally inherited mitochondrial (mt)DNA mutations can cause fatal or severely debilitating syndromes in children, with disease severity dependent on the specific gene mutation and the ratio of mutant to wild-type mtDNA (heteroplasmy) in each cell and tissue. Pathogenic mtDNA mutations are relatively common, with an estimated 778 affected children born each year in the United States. Mitochondrial replacement therapies or techniques (MRT) circumventing mother-to-child mtDNA disease transmission involve replacement of oocyte maternal mtDNA...
November 30, 2016: Nature
https://www.readbyqxmd.com/read/27917907/ecat1-is-essential-for-human-oocyte-maturation-and-pre-implantation-development-of-the-resulting-embryos
#7
Changyu Liu, Min Li, Tianjie Li, Hongcui Zhao, Jin Huang, Yun Wang, Qian Gao, Yang Yu, Qinghua Shi
ECAT1 is a subunit of the subcortical maternal complex that is required for cell cycle progression during pre-implantation embryonic development; however, its exact function remains to be elucidated. Here we investigated the expression of ECAT1 in human ovarian tissue, oocytes and pre-implantation embryos and assessed its function by using RNA interference (RNAi) in oocytes. ECAT1 mRNA was highly expressed in human oocytes and zygotes, as well as in two-cell, four-cell and eight-cell embryos, but declined significantly in morulae and blastocysts...
December 5, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27916814/low-density-lipoprotein-receptor-contributes-to-%C3%AE-carotene-uptake-in-the-maternal-liver
#8
Varsha Shete, Brianna K Costabile, Youn-Kyung Kim, Loredana Quadro
Vitamin A regulates many essential mammalian biological processes, including embryonic development. β-carotene is the main source of vitamin A in the human diet. Once ingested, it is packaged into lipoproteins, predominantly low-density lipoproteins (LDL), and transported to different sites within the body, including the liver and developing tissues, where it can either be stored or metabolized to retinoids (vitamin A and its derivatives). The molecular mechanisms of β-carotene uptake by the liver or developing tissues remain elusive...
November 29, 2016: Nutrients
https://www.readbyqxmd.com/read/27916276/a-surveillance-mechanism-ensures-repair-of-dna-lesions-during-zygotic-reprogramming
#9
Sabrina Ladstätter, Kikuë Tachibana-Konwalski
Sexual reproduction culminates in a totipotent zygote with the potential to produce a whole organism. Sperm chromatin reorganization and epigenetic reprogramming that alter DNA and histone modifications generate a totipotent embryo. Active DNA demethylation of the paternal genome has been proposed to involve base excision and DNA repair-based mechanisms. The nature and consequence of DNA lesions generated during reprogramming are not known. Using mouse genetics and chemical biology, we discovered that Tet3-dependent zygotic reprogramming generates paternal DNA lesions that are monitored by a surveillance mechanism...
November 21, 2016: Cell
https://www.readbyqxmd.com/read/27916207/integrating-insulin-into-single-step-culture-medium-regulates-human-embryo-development-in%C3%A2-vitro
#10
Mohamed Fawzy, Mohamed Sabry, Mohamed Nour, Mohamed Y Abdelrahman, Eman Roshdy, Yasmin Magdi, Hazem Abdelghafar
OBJECTIVE: To evaluate the effect of supplementing single-step embryo culture medium with insulin on human embryo development. DESIGN: Comparative study. SETTING: Two private centers. PATIENT(S): The study involved a sibling oocyte split of 5,142 retrieved oocytes from 360 patients. INTERVENTION(S): Sibling oocytes split after intracytoplasmic sperm injection for culture from day 0 through day 5 or 6 in insulin-supplemented or control medium...
December 1, 2016: Fertility and Sterility
https://www.readbyqxmd.com/read/27915038/intrauterine-administration-of-hcg-activated-autologous-human-peripheral-blood-mononuclear-cells-pbmc-promotes-live-birth-rates-in-frozen-thawed-embryo-transfer-cycles-of-patients-with-repeated-implantation-failure
#11
Saijiao Li, Jing Wang, Yan Cheng, Danni Zhou, Tailang Yin, Wangming Xu, Nan Yu, Jing Yang
Recurrent implantation failure refers to unsuccessful implantation after repeated transfers of morphologically good quality embryos into a normal uterus. Recently, accumulating evidence has suggested that local immune cells at the implantation site have actively contributed to embryo implantation. Our aim was to study the effects of intrauterine administration of hCG-activated autologous human PBMC on clinical pregnancy, implantation rates and live birth rate of patients who received frozen/thawed embryo transfer...
November 27, 2016: Journal of Reproductive Immunology
https://www.readbyqxmd.com/read/27911818/planar-cell-polarity-signaling-in-the-uterus-directs-appropriate-positioning-of-the-crypt-for-embryo-implantation
#12
Jia Yuan, Jeeyeon Cha, Wenbo Deng, Amanda Bartos, Xiaofei Sun, Hsin-Yi Henry Ho, Jean-Paul Borg, Terry P Yamaguchi, Yingzi Yang, Sudhansu K Dey
Blastocyst implantation is a complex process requiring coordination of a dynamic sequence of embryo-uterine interactions. Blood vessels enter the uterus from the mesometrium, demarcating the uterus into mesometrial (M) and antimesometrial (AM) domains. Implantation occurs along the uterine longitudinal axis within specialized implantation chambers (crypts) that originate within the evaginations directed from the primary lumen toward the AM domain. The morphological orientation of crypts in rodent uteri was recognized more than a century ago, but the mechanism remained unknown...
November 28, 2016: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/27910733/a-comparative-morphologic-and-morphometric-study-about-geniculate-ganglion-development-in-man-and-in-rat
#13
Ana Sánchez-Del-Rey, José Maria Sánchez-Fernández, Arantza Ibargutxi, Agustin Martinez-Ibargüen, Francisco Santaolalla
CONCLUSIONS: Human-rat geniculate ganglion (GG) have multiple origins: (1) An initial proximity (20 μm) to the endocranial foramen of the IAM, suggests neural crest induction; and (2) The influence of epibranchial placodes: the tensor tympani muscle (TTM) and the otic apical coil. OBJECTIVES: This study was undertaken to determine the comparative development of human-rat GG. MATERIALS AND METHODS: A light microscopic study of the GG in human material obtained from spontaneous abortions at 9, 13, 14, 17, 18, and 30 weeks, and one neonate was done...
December 2, 2016: Acta Oto-laryngologica
https://www.readbyqxmd.com/read/27909687/morphogenesis-of-human-embryonic-stem-cells-into-mature-neurons-under-in-vitro-culture-conditions
#14
Geeta Shroff
AIM: To describe the morphogenesis of different neuronal cells from the human embryonic stem cell (hESC) line, SCT-N, under in vitro culture conditions. METHODS: The directed neuronal cell line was produced from a single, spare, pre-implantation stage fertilized ovum that was obtained during a natural in vitro fertilization process. The hESCs were cultured and maintained as per our proprietary in-house technology in a Good Manufacturing Practice, Good Laboratory Practice and Good Tissue Practice compliant laboratory...
November 20, 2016: World Journal of Experimental Medicine
https://www.readbyqxmd.com/read/27908602/kisspeptin-and-embryo-implantation-after-icsi
#15
Zehra Jamil, Syeda Sadia Fatima, Sara Arif, Faiza Alam, Rehana Rehman
A cross-sectional study was carried out at the Australian Concept Infertility Medical Centre from June 2014 to June 2015 to relate serum kisspeptin levels on human chorionic gonadotrophin (HCG) day with pregnancy outcome after intracytoplasmic sperm injection (ICSI). A total of 176 women aged 20 to 42 years, with regular menstrual cycles, normal thyroid function and prolactin levels selected for ICSI were included in the study. Patients with uterine fibroids, metabolic disorders, short agonist and antagonist protocol were excluded...
November 18, 2016: Reproductive Biomedicine Online
https://www.readbyqxmd.com/read/27907920/aneuploidy-detection-and-mtdna-quantification-in-bovine-embryos-with-different-cleavage-onset-using-a-next-generation-sequencing-based-protocol
#16
Miroslav Hornak, David Kubicek, Petr Broz, Pavlina Hulinska, Katerina Hanzalova, Darren Griffin, Marie Machatkova, Jiri Rubes
Bovine embryos are now routinely used in agricultural systems as a means of disseminating superior genetics worldwide, ultimately with the aim of feeding an ever-growing population. Further investigations, common for human IVF embryos, thus have priority to improve cattle IVF, as has screening for aneuploidy (abnormal chromosome number). Although the incidence and consequences of aneuploidy are well documented in human preimplantation embryos, they are less well known for the embryos of other animals. To address this, we assessed aneuploidy levels in thirty-one 2-cell bovine embryos derived from early- and late-cleaving zygotes...
December 2, 2016: Cytogenetic and Genome Research
https://www.readbyqxmd.com/read/27907851/effects-of-antiandrogenic-progestins-chlormadinone-and-cyproterone-acetate-and-the-estrogen-17%C3%AE-ethinylestradiol-ee2-and-their-mixtures-transactivation-with-human-and-rainbowfish-hormone-receptors-and-transcriptional-effects-in-zebrafish-danio-rerio-eleuthero
#17
Patricia Franziska Siegenthaler, Peter Bain, Francesco Riva, Karl Fent
Synthetic progestins act as endocrine disrupters in fish but their risk to the environment is not sufficiently known. Here, we focused on an unexplored antiandrogenic progestin, chlormadinone acetate (CMA), and the antiandrogenic progestin cyproterone acetate (CPA). The aim was to evaluate whether their in vitro interaction with human and rainbowfish (Melanotaenia fluviatilis) sex hormone receptors is similar. Furthermore, we investigated their activity in zebrafish (Danio rerio) eleuthero-embryos. First, we studied agonistic and antagonistic activities of CMA, CPA, and 17α-ethinylestradiol (EE2), in recombinant yeast expressing either the human progesterone (PGR), androgen (AR), or estrogen receptor...
November 9, 2016: Aquatic Toxicology
https://www.readbyqxmd.com/read/27906186/preimplantation-factor-is-an-anti-apoptotic-effector-in-human-trophoblasts-involving-p53-signaling-pathway
#18
Hadia Moindjie, Esther Dos Santos, Rita-Josiane Gouesse, Nelly Swierkowski-Blanchard, Valérie Serazin, Eytan R Barnea, François Vialard, Marie-Noëlle Dieudonné
From the earliest stages of gestation, embryonic-maternal interaction has a key role in a successful pregnancy. Various factors present during gestation may significantly influence this type of juxta/paracrine interaction. PreImplantation Factor (PIF) is a recently identified factor with activity at the fetomaternal interface. PIF is secreted by viable embryos and directly controls placental development by increasing the invasive capacity of human extravillous trophoblasts (EVTs). To further specify PIF's role in the human placenta, we analyzed the genome-wide expression profile of the EVT in the presence of a synthetic PIF analog (sPIF)...
December 1, 2016: Cell Death & Disease
https://www.readbyqxmd.com/read/27904023/early-embryonic-development-of-long-tendons-in-the-human-foot
#19
Masahito Yamamoto, Yasuhiro Shiraishi, Kei Kitamura, Zhe Wu Jin, Gen Murakami, Jose Francisco Rodríguez-Vázquez, Shin-Ichi Abe
To examine a common plantar tendinous plate for long flexors of the toe and fingers in human embryos, we observed sections of 10 embryos at 5-6 weeks (crown-rump length or CRL 15-21 mm). The heel or tuber of the calcaneus was underdeveloped in 3 embryos with CRL 15 mm and the talus appeared not to be piled up on the calcaneus but these two bones were arranged along the lateromedial axis. As reported in the hand, we demonstrated, in the deep side of tarsal bones, a common tendinous plate formed by a joining of the flexor halluces longus and flexor digitorum longus tendons...
2016: Okajimas Folia Anatomica Japonica
https://www.readbyqxmd.com/read/27904020/is-the-ultimobranchial-body-a-reality-or-myth-a-study-using-serial-sections-of-human-embryos
#20
Yohei Honkura, Masahito Yamamoto, Toshihito Yoshimoto, Jose Francisco Rodriguez-Vazquez, Gen Murakami, Yukio Katori, Shin-Ichi Abe
Reported morphologies of the ultimobranchial body had varied between researchers: a cluster of mitotic cells, a duct-like structure and a rosette-like cell mass. To clarify the true morphology, we studied tilted horizontal sections of 20 human embryos (crown-rump length 5-18 mm; 4-6 weeks). The sections displayed a ladder-like arrangement of the second to fourth endodermal pouches and, in 5 early embryos we found the fifth pouch attached to the fifth ectodermal groove near the fourth pharyngeal arch artery...
2016: Okajimas Folia Anatomica Japonica
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