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https://www.readbyqxmd.com/read/27934600/generation-of-human-embryonic-stem-cells-from-abnormal-blastocyst-diagnosed-with-albinism
#1
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
#2
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
#3
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
#4
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
#5
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
#6
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
#7
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
#8
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
#9
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
https://www.readbyqxmd.com/read/27879213/generation-of-hexa-deficient-hipscs-from-fibroblasts-of-a-tay-sachs-disease-patient
#10
Zhong Liu, Rui Zhao
Human iPSC line TSD-01-hiPSC was generated from fibroblasts of a patient with infantile Tay-Sachs disease (TSD). The patient is compound heterozygous at the HEXA gene by carrying a 1278insTATC allele and an IVS12+1G>C allele. STEMCCA lentivirus, which expresses OCT4, SOX2, KLF4, and c-MYC from a polycistronic transcript, were used for reprogramming. TSD-01-hiPSC express pluripotency markers such as OCT4, SOX2, NANOG, Tra-1-60, and alkaline phosphatase, and can differentiate into tissues from all the three embryonic germ layers...
September 2016: Stem Cell Research
https://www.readbyqxmd.com/read/27870561/high-dose-chemotherapy-and-autologous-peripheral-blood-stem-cell-transplantation-for-relapsed-metastatic-germ-cell-tumors-the-indiana-university-experience
#11
Nabil Adra, Rafat Abonour, Sandra K Althouse, Costantine Albany, Nasser H Hanna, Lawrence H Einhorn
Purpose Patients with relapsed metastatic germ cell tumor (GCT) can be cured with second-line and even third-line regimens. We report survival outcomes of patients treated with high-dose chemotherapy (HDCT) and peripheral-blood stem-cell transplantation (PBSCT) at Indiana University between 2004 and 2014. Patients and Methods We conducted a retrospective analysis of 364 consecutive patients with GCT who progressed after cisplatin-based combination chemotherapy and were subsequently treated with HDCT and PBSCT...
November 21, 2016: Journal of Clinical Oncology: Official Journal of the American Society of Clinical Oncology
https://www.readbyqxmd.com/read/27865621/menaquinone-4-vitamin-k2-up-regulates-expression-of-human-intestinal-alkaline-phosphatase-in-caco-2-cells
#12
Seiko Noda, Asako Yamada, Rieko Tanabe, Kanae Nakaoka, Takayuki Hosoi, Masae Goseki-Sone
Alkaline phosphatase (ALP) hydrolyzes several monophosphate esters into inorganic acid and alcohol. In humans, 4 kinds of ALP isozymes have been identified: tissue-nonspecific ALP, intestinal ALP, placental ALP, and germ cell ALP. Intestinal ALP is expressed at a high concentration in the brush border membrane of intestinal epithelial cells and is known to be affected by several kinds of nutrients, such as lipids, but the physiological function of intestinal ALP has remained elusive. Vitamin K is an essential cofactor for the posttranslational carboxylation of glutamate residues into γ-carboxy glutamate...
October 14, 2016: Nutrition Research
https://www.readbyqxmd.com/read/27854341/sept12-ndc1-complexes-are-required-for-mammalian-spermiogenesis
#13
Tsung-Hsuan Lai, Ying-Yu Wu, Ya-Yun Wang, Mei-Feng Chen, Pei Wang, Tsung-Ming Chen, Yi-No Wu, Han-Sun Chiang, Pao-Lin Kuo, Ying-Hung Lin
Male factor infertility accounts for approximately 50 percent of infertile couples. The male factor-related causes of intracytoplasmic sperm injection failure include the absence of sperm, immotile sperm, immature sperm, abnormally structured sperm, and sperm with nuclear damage. Our knockout and knock-in mice models demonstrated that SEPTIN12 (SEPT12) is vital for the formation of sperm morphological characteristics during spermiogenesis. In the clinical aspect, mutated SEPT12 in men results in oligozoospermia or teratozoospermia or both...
November 16, 2016: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/27837554/slow-cooling-cryopreservation-optimized-to-human-pluripotent-stem-cells
#14
Takamichi Miyazaki, Hirofumi Suemori
Human pluripotent stem cells (hPSCs) have the potential for unlimited expansion and differentiation into cells that form all three germ layers. Cryopreservation is one of the key processes for successful applications of hPSCs, because it allows semi-permanent preservation of cells and their easy transportation. Most animal cell lines, including mouse embryonic stem cells, are standardly cryopreserved by slow cooling; however, hPSCs have been difficult to preserve and their cell viability has been extremely low whenever cryopreservation has been attempted...
2016: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/27833438/the-inhibitory-effect-of-flavonoids-on-interleukin-8-release-by-human-gastric-adenocarcinoma-ags-cells-infected-with-cag-pai-helicobacter-pylori
#15
Mariusz A Skiba, Kornelia Szendzielorz, Bogdan Mazur, Wojciech Król
INTRODUCTION: It is well known that the presence of Helicobacter pylori in the stomach induces gastritis and causes an immune response. Exposure of gastric epithelial cell lines to this germ induces the secretion of interleukin-8 (IL-8), which is a potent PMN-activating chemotactic cytokine. Interleukin-8 is usually elevated in gastric biopsy samples of patients with H. pylori-associated gastritis and significantly increases in the supernatant of in vitro cultivated biopsy samples of gastric mucosa with active H...
2016: Central-European Journal of Immunology
https://www.readbyqxmd.com/read/27832543/using-an-inducible-crispr-dcas9-krab-effector-system-to-dissect-transcriptional-regulation-in-human-embryonic-stem-cells
#16
Krishna Mohan Parsi, Erica Hennessy, Nicola Kearns, René Maehr
CRISPR-Cas9 effector systems have wide applications for the stem cell and regenerative medicine field. The ability to dissect the functional gene regulatory networks in pluripotency and potentially in differentiation intermediates of all three germ layers makes this a valuable tool for the stem cell community. Catalytically inactive Cas9 fused to transcriptional/chromatin effector domains allows for silencing or activation of a genomic region of interest. Here, we describe the application of an inducible, RNA-guided, nuclease-deficient (d) Cas9-KRAB system (adapted from Streptococcus pyogenes) to silence target gene expression in human embryonic stem cells, via KRAB repression at the promoter region...
2017: Methods in Molecular Biology
https://www.readbyqxmd.com/read/27796811/differential-expression-of-mirnas-in-the-seminal-plasma-and-serum-of-testicular-cancer-patients
#17
Marianna Pelloni, Giulia Coltrinari, Donatella Paoli, Francesco Pallotti, Francesco Lombardo, Andrea Lenzi, Loredana Gandini
Various microRNAs from the miR-371-3 and miR-302a-d clusters have recently been proposed as markers for testicular germ cell tumours. Upregulation of these miRNAs has been found in both the tissue and serum of testicular cancer patients, but they have never been studied in human seminal plasma. The aim of this study was, therefore, to assess the differences in the expression of miR-371-3 and miR-302a-d between the seminal plasma and serum of testicular cancer patients, and to identify new potential testicular cancer markers in seminal plasma...
October 28, 2016: Endocrine
https://www.readbyqxmd.com/read/27790297/disease-characteristics-and-survival-outcomes-of-extragonadal-primary-germ-cell-tumour-in-two-canadian-tertiary-cancer-centres
#18
Jenny J Ko, Tehmina Asif, Haocheng Li, Nimira Alimohamed, Phuong Thao Nguyen, Daniel Y C Heng
INTRODUCTION: Extragonadal germ cell tumours (EGCTs) are a heterogeneous group with distinct natural history and responses to treatment modalities. We sought to evaluate characteristics and survival outcomes in men with EGCTs. METHODS: We performed a retrospective analysis on a consecutive list of men diagnosed with EGCT in two Albertan cancer centres between 1990 and 2013. Demographic characteristics and outcomes, stratified by primary site, were evaluated. RESULTS: Sixty-nine cases were identified...
May 2016: Canadian Urological Association Journal, Journal de L'Association des Urologues du Canada
https://www.readbyqxmd.com/read/27789408/lymphoblast-derived-integration-free-ips-cell-line-from-a-female-67-year-old-alzheimer-s-disease-patient-with-trem2-r47h-missense-mutation
#19
Friederike Schröter, Kristel Sleegers, Elise Cuyvers, Martina Bohndorf, Wasco Wruck, Christine Van Broeckhoven, James Adjaye
Human lymphoblast cells from a female patient diagnosed with Alzheimer's disease (AD) possessing the missense mutation TREM2 p.R47H were used to generate integration-free induced pluripotent stem cells (iPSCs) employing episomal plasmids expressing OCT4, SOX2, NANOG, LIN28, c-MYC and L-MYC. The iPSCs retained the TREM2 mutation, and were defined as pluripotent based on (i) expression of pluripotent-associated markers, (ii) embryoid body-based differentiation into cell types representative of the three germ layers and (iii) the similarity between the transcriptomes of the iPSC line and the human embryonic stem cell line H1 with a Pearson correlation of 0...
October 20, 2016: Stem Cell Research
https://www.readbyqxmd.com/read/27789404/establishment-of-ehmt1-mutant-induced-pluripotent-stem-cell-ipsc-line-from-a-11-year-old-kleefstra-syndrome-ks-patient-with-autism-and-normal-intellectual-performance
#20
Eszter Varga, Csilla Nemes, Zsuzsanna Táncos, István Bock, Sára Berzsenyi, György Lévay, Viktor Román, Julianna Kobolák, András Dinnyés
Peripheral blood was collected from a clinically characterized female Kleefstra syndrome patient with a heterozygous, de novo, premature termination codon (PTC) mutation (NM_024757.4(EHMT1):c.3413G>A; p.Trp1138Ter). Peripheral blood mononuclear cells (PBMCs) were reprogrammed with the human OSKM transcription factors using the Sendai-virus (SeV) delivery system. The pluripotency of transgene-free iPSC line was verified by the expression of pluripotency-associated markers and by in vitro spontaneous differentiation towards the 3 germ layers...
October 2, 2016: Stem Cell Research
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