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https://www.readbyqxmd.com/read/28073973/human-foetal-ovary-shares-meiotic-preventing-factors-with-the-developing-testis
#1
Nelly Frydman, Marine Poulain, Brahim Arkoun, Clotilde Duquenne, Sophie Tourpin, Sébastien Messiaen, René Habert, Virginie Rouiller-Fabre, Alexandra Benachi, Gabriel Livera
STUDY QUESTION: How can pre-meiotic germ cells persist in the human foetal ovary? SUMMARY ANSWER: Numerous oogonia escaping meiotic entry were retrieved throughout human ovarian development simultaneously with the expression of signalling pathways preventing meiosis, typically described in the rodent embryonic testis. WHAT IS KNOWN ALREADY: The transition from mitosis to meiosis is a key event in female germ cells that remains poorly documented in research on the human ovary...
January 9, 2017: Human Reproduction
https://www.readbyqxmd.com/read/28053071/mouse-models-for-drug-discovery-can-new-tools-and-technology-improve-translational-power
#2
Aamir Zuberi, Cathleen Lutz
The use of mouse models in biomedical research and preclinical drug evaluation is on the rise. The advent of new molecular genome-altering technologies such as CRISPR/Cas9 allows for genetic mutations to be introduced into the germ line of a mouse faster and less expensively than previous methods. In addition, the rapid progress in the development and use of somatic transgenesis using viral vectors, as well as manipulations of gene expression with siRNAs and antisense oligonucleotides, allow for even greater exploration into genomics and systems biology...
December 2016: ILAR Journal
https://www.readbyqxmd.com/read/28049852/in-vivo-severity-ranking-of-ras-pathway-mutations-associated-with-developmental-disorders
#3
Granton A Jindal, Yogesh Goyal, Kei Yamaya, Alan S Futran, Iason Kountouridis, Courtney A Balgobin, Trudi Schüpbach, Rebecca D Burdine, Stanislav Y Shvartsman
Germ-line mutations in components of the Ras/MAPK pathway result in developmental disorders called RASopathies, affecting about 1/1,000 human births. Rapid advances in genome sequencing make it possible to identify multiple disease-related mutations, but there is currently no systematic framework for translating this information into patient-specific predictions of disease progression. As a first step toward addressing this issue, we developed a quantitative, inexpensive, and rapid framework that relies on the early zebrafish embryo to assess mutational effects on a common scale...
January 17, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28038682/comparison-of-a-teratogenic-transcriptome-based-predictive-test-based-on-human-embryonic-versus-inducible-pluripotent-stem-cells
#4
Vaibhav Shinde, Sureshkumar Perumal Srinivasan, Margit Henry, Tamara Rotshteyn, Jürgen Hescheler, Jörg Rahnenführer, Marianna Grinberg, Johannes Meisig, Nils Blüthgen, Tanja Waldmann, Marcel Leist, Jan Georg Hengstler, Agapios Sachinidis
BACKGROUND: Human embryonic stem cells (hESCs) partially recapitulate early embryonic three germ layer development, allowing testing of potential teratogenic hazards. Because use of hESCs is ethically debated, we investigated the potential for human induced pluripotent stem cells (hiPSCs) to replace hESCs in such tests. METHODS: Three cell lines, comprising hiPSCs (foreskin and IMR90) and hESCs (H9) were differentiated for 14 days. Their transcriptome profiles were obtained on day 0 and day 14 and analyzed by comprehensive bioinformatics tools...
December 30, 2016: Stem Cell Research & Therapy
https://www.readbyqxmd.com/read/28025795/possible-role-of-hiwi2-in-modulating-tight-junction-proteins-in-retinal-pigment-epithelial-cells-through-akt-signaling-pathway
#5
Suganya Sivagurunathan, Karthikka Palanisamy, Jayamuruga Pandian Arunachalam, Subbulakshmi Chidambaram
PIWI subfamily of proteins is shown to be primarily expressed in germline cells. They maintain the genomic integrity by silencing the transposable elements. Although the role of PIWI proteins in germ cells has been documented, their presence and function in somatic cells remains unclear. Intriguingly, we detected all four members of PIWI-like proteins in human ocular tissues and somatic cell lines. When HIWI2 was knocked down in retinal pigment epithelial cells, the typical honeycomb morphology was affected...
December 26, 2016: Molecular and Cellular Biochemistry
https://www.readbyqxmd.com/read/28018848/mitochondrial-transfer-implications-for-assisted-reproductive-technologies
#6
REVIEW
A S Reznichenko, C Huyser, M S Pepper
The use of mitochondrial transfer as a clinic procedure is drawing closer to reality. Here we provide a detailed overview of mitochondrial transfer techniques - both established and recent - including pronuclear, spindle, ooplasmic and blastomere transfer. Reasons as to why some techniques are more suitable for the prevention of mitochondrial DNA disease than others, as well as the advantages and disadvantages of each methodology, are discussed. The possible clinical introduction of these techniques has raised concerns about the adverse effects they may have on resultant embryos and offspring...
December 2016: Applied & Translational Genomics
https://www.readbyqxmd.com/read/28000896/mir%C3%A2-223%C3%A2-3p-regulates-cell-growth-and-apoptosis-via-fbxw7-suggesting-an-oncogenic-role-in-human-testicular-germ-cell-tumors
#7
Jikai Liu, Hao Shi, Xidan Li, Gang Chen, Catharina Larsson, Weng-Onn Lui
miR‑223‑3p is deregulated in several tumor types and plays an important role in tumorigenesis and progression. However, its role in the pathogenesis of testicular germ cell tumor (TGCT) remains uncharacterized. We previously demonstrated that miR‑223‑3p expression was increased in TGCTs compared with normal testes (NT), suggesting that miR‑223‑3p may have an oncogenic role in TGCT. Using published dataset and The Cancer Genome Atlas database, we validated higher miR‑223‑3p expression in TGCTs than NT, and found a negative correlation between miR-223-3p and FBXW7 mRNA expression levels...
February 2017: International Journal of Oncology
https://www.readbyqxmd.com/read/27992447/heat-sensing-receptor-trpv1-is-a-mediator-of-thermotaxis-in-human-spermatozoa
#8
Luca De Toni, Andrea Garolla, Massimo Menegazzo, Sabina Magagna, Andrea Di Nisio, Iva Šabović, Maria Santa Rocca, Valentina Scattolini, Andrea Filippi, Carlo Foresta
The molecular bases of sperm thermotaxis, the temperature-oriented cell motility, are currently under investigation. Thermal perception relies on a subclass of the transient receptor potential [TRP] channels, whose member TRPV1 is acknowledged as the heat sensing receptor. Here we investigated the involvement of TRPV1 in human sperm thermotaxis. We obtained semen samples from 16 normozoospermic subjects attending an infertility survey programme, testis biopsies from 6 patients with testicular germ cell cancer and testis fine needle aspirates from 6 patients with obstructive azoospermia undergoing assisted reproductive technologies...
2016: PloS One
https://www.readbyqxmd.com/read/27992363/germ-cell-specific-sustained-activation-of-wnt-signalling-perturbs-spermatogenesis-in-aged-mice-possibly-through-non-coding-rnas
#9
Manish Kumar, Joshua Atkins, Murray Cairns, Ayesha Ali, Pradeep S Tanwar
Dysregulated Wnt signalling is associated with human infertility and testicular cancer. However, the role of Wnt signalling in male germ cells remains poorly understood. In this study, we first confirmed the activity of Wnt signalling in mouse, dog and human testes. To determine the physiological importance of the Wnt pathway, we developed a mouse model with germ cell-specific constitutive activation of βcatenin. In young mutants, similar to controls, germ cell development was normal. However, with age, mutant testes showed defective spermatogenesis, progressive germ cell loss, and flawed meiotic entry of spermatogonial cells...
December 15, 2016: Oncotarget
https://www.readbyqxmd.com/read/27983647/critical-function-of-prdm2-in-the-neoplastic-growth-of-testicular-germ-cell-tumors
#10
Erika Di Zazzo, Carola Porcile, Silvia Bartollino, Bruno Moncharmont
Testicular germ cell tumors (TGCTs) derive from primordial germ cells. Their maturation is blocked at different stages, reflecting histological tumor subtypes. A common genetic alteration in TGCT is a deletion of the chromosome 1 short arm, where the PRDM2 gene, belonging to the Positive Regulatory domain gene (PRDM) family, is located. Expression of PRDM2 gene is shifted in different human tumors, where the expression of the two principal protein forms coded by PRDM2 gene, RIZ1 and RIZ2, is frequently unbalanced...
December 14, 2016: Biology
https://www.readbyqxmd.com/read/27938333/pseudomyxoma-peritonei-of-a-mature-ovarian-teratoma-caused-by-mismatch-repair-deficiency-in-a-patient-with-lynch-syndrome-a-case-report
#11
Yoshimasa Gohda, Rei Noguchi, Tomoko Horie, Toru Igari, Harumi Nakamura, Yasunori Ohta, Kiyoshi Yamaguchi, Tsuneo Ikenoue, Seira Hatakeyama, Nozomi Yusa, Yoichi Furukawa, Hideaki Yano
BACKGROUND: Pseudomyxoma peritonei (PMP) is a rare disease with an estimated incidence of 1-2 cases per million individuals per year. PMP is characterized by the accumulation of abundant mucinous or gelatinous fluid derived from disseminated tumorous cells. Most of the tumorous cells are originated from rupture of appendiceal neoplasms, but some are from the metastasis of cancer of the colon, ovary, fallopian tube, urachus, colorectum, gallbladder, stomach, pancreas, lung and breast. Although frequent mutations in KRAS and/or GNAS genes have been reported, precise molecular mechanism underlying PMP remains to be elucidated...
December 9, 2016: BMC Medical Genetics
https://www.readbyqxmd.com/read/27934600/generation-of-human-embryonic-stem-cells-from-abnormal-blastocyst-diagnosed-with-albinism
#12
Yi Sun, Xiaoying Zhou, Jing Chen, Juan Du, Guangxiu Lu, Ge Lin, Qi Ouyang
Human embryonic stem cell (hESC) line chHES-478 was derived from abnormal blastocyst diagnosed with albinism after preimplantation genetic diagnosis (PGD) treatment. DNA sequencing analysis confirmed that chHES-478 cell line carried a compound heterozygous mutation, c.896G>A(p.Arg299His) and c.929_930insC(p.Pro310Glnfs*9), of TYR gene. Characteristic tests proved that the chHES-478 cell line presented typical markers of pluripotency and had the capability to form the three germ layers both in vitro and in vivo...
November 10, 2016: Stem Cell Research
https://www.readbyqxmd.com/read/27934598/human-embryonic-stem-cells-derived-from-abnormal-blastocyst-donated-by-polycystic-kidney-syndrome-patient
#13
Qi Ouyang, Xiaoying Zhou, Jing Chen, Juan Du, Guangxiu Lu, Ge Lin, Yi Sun
Human embryonic stem cell (hESC) line chHES-468 was derived from abnormal blastocyst donated by polycystic kidney syndrome (PKD) patient after preimplantation genetic diagnosis (PGD) treatment. DNA sequencing analysis confirmed that chHES-468 cell line carried a heterozygous mutation, c.10526_10527delAG, of PKD1. Characteristic tests proved that the chHES-468 cell line presented typical markers of pluripotency and had the capability to form the three germ layers both in vitro and in vivo.
November 5, 2016: Stem Cell Research
https://www.readbyqxmd.com/read/27934597/generation-of-human-embryonic-stem-cells-from-abnormal-blastocyst-diagnosed-with-adrenoleukodystrophy
#14
Qi Ouyang, Xiaoying Zhou, Jing Chen, Juan Du, Guangxiu Lu, Ge Lin, Yi Sun
Human embryonic stem cell (hESC) line chHES-480 was derived from abnormal blastocyst diagnosed with adrenoleukodystrophy (ALD) after preimplantation genetic diagnosis (PGD) treatment. DNA sequencing analysis confirmed that chHES-480 cell line carried a hemizygous missense mutation c.1825G>A(p.Glu609Lys) of ABCD1 gene. Characteristic tests proved that the chHES-480 cell line presented typical markers of pluripotency and had the capability to form the three germ layers both in vitro and in vivo.
November 9, 2016: Stem Cell Research
https://www.readbyqxmd.com/read/27934595/generation-of-human-embryonic-stem-cell-line-chhes-458-from-abnormal-embryos-with-htt-gene-mutation
#15
Pingyuan Xie, Yanfang Sun, Xiaoying Zhou, Jing Chen, Juan Du, Yi Sun, Guangxiu Lu, Ge Lin, Qi Ouyang
The human embryonic stem cell (hESC) line chHES-458 was derived from a abnormal blastocyst carrying the expanded CAG repeat mutation of the HTT gene that would lead to Huntington disease. This cell line maintained a normal karyotype 46, XX during long-term culture and displayed pluripotent characteristics, including expression of pluripotency-related transcription factors and capacity of forming well-differentiated three germ layers after being injected into the SCID mice.
November 5, 2016: Stem Cell Research
https://www.readbyqxmd.com/read/27934592/generation-of-merrf-patient-derived-induced-pluripotent-stem-cell-line-imerrf-c7
#16
Dong Liang, Huanran Hu, Tianhui Xu, Yan Wang, Ping Hu, Zhengfeng Xu
Human iPSC line iMERRF-C7 was generated from PBMCs of a patient with mitochondrial disorder MERRF. Using Sendai virus, the reprogramming factors Oct3/4, Sox2, Klf4, and cMyc were delivered non-integratively. The resulting iPSCs expressed pluripotency markers, could differentiate into the three germ layers in vivo, had normal genomic structure, and retained the disease-causing m.8344 mutation with similar heteroplasmic level.
November 5, 2016: Stem Cell Research
https://www.readbyqxmd.com/read/27932549/proteolytic-degradation-of-heat-shock-protein-a2-occurs-in-response-to-oxidative-stress-in-male-germ-cells-of-the-mouse
#17
Elizabeth G Bromfield, R John Aitken, Eileen A McLaughlin, Brett Nixon
STUDY QUESTION: Does oxidative stress compromise the protein expression of heat shock protein A2 (HSPA2) in the developing germ cells of the mouse testis? SUMMARY ANSWER: Oxidative stress leads to the modification of HSPA2 by the lipid aldehyde 4-hydroxynonenal (4HNE) and initiates its degradation via the ubiquitin-proteasome system. WHAT IS KNOWN ALREADY: Previous work has revealed a deficiency in HSPA2 protein expression within the spermatozoa of infertile men that have failed fertilization in a clinical setting...
December 8, 2016: Molecular Human Reproduction
https://www.readbyqxmd.com/read/27926513/mael-is-essential-for-cancer-cell-survival-and-tumorigenesis-through-protection-of-genetic-integrity
#18
Su-Hyeon Kim, Eun-Ran Park, Eugene Cho, Won-Hee Jung, Ju-Yeon Jeon, Hyun-Yoo Joo, Kee-Ho Lee, Hyun-Jin Shin
Germ line-specific genes are activated in somatic cells during tumorigenesis, and are accordingly referred to as cancer germline genes. Such genes that act on piRNA (Piwi-interacting RNA) processing play an important role in the progression of cancer cells. Here, we show that the spermatogenic transposon silencer maelstrom (Mael), a piRNA-processing factor, is required for malignant transformation and survival of cancer cells. A specific Mael isoform was distinctively overexpressed in diverse human cancer cell lines and its depletion resulted in cancer-specific cell death, characterized by apoptosis and senescence, accompanied by an increase in reactive oxygen-species and DNA damage...
December 1, 2016: Oncotarget
https://www.readbyqxmd.com/read/27911909/early-onset-paternal-smoking-and-offspring-adiposity-further-investigation-of-a-potential-intergenerational-effect-using-the-hunt-study
#19
David Carslake, Pia R Pinger, Pål Romundstad, George Davey Smith
Recently it has been suggested that rearing conditions during preadolescence in one generation may affect health outcomes in subsequent generations. Such parental effects, potentially induced by epigenetic modifications in the germ line, have attracted considerable attention because of their implications for public health and social policies. Yet, to date, evidence in humans has been rare due to data limitations and much further investigation in large studies is required. The aim of this paper is to reproduce and extend a recent study which found that paternal smoking before age 11 was associated with elevated body mass index (BMI) among male offspring in the Avon Longitudinal Study of Parents and Children (ALSPAC)...
2016: PloS One
https://www.readbyqxmd.com/read/27879217/generation-of-optic-atrophy-1-patient-derived-induced-pluripotent-stem-cells-ips-opa1-behr-for-disease-modeling-of-complex-optic-atrophy-syndromes-behr-syndrome
#20
Stefan Hauser, Stefanie Schuster, Yvonne Theurer, Matthis Synofzik, Ludger Schöls
Human skin fibroblasts were isolated from a 48-year-old patient carrying compound heterozygous mutations (c.610+364G>A and c.1311A>G) in OPA1, responsible for early onset optic atrophy complicated by ataxia and pyramidal signs (Behr syndrome; OMIM #210000). Fibroblasts were reprogrammed using episomal plasmids carrying hOCT4, hSOX2, hKLF4, hL-MYC and hLIN28. The generated transgene-free line iPS-OPA1-BEHR showed no additional genomic aberrations, maintained the disease-relevant mutations, expressed important pluripotency markers and was capable to differentiate into cells of all three germ layers in vitro...
September 2016: Stem Cell Research
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