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https://www.readbyqxmd.com/read/27906793/multimorbidity-and-genetic-characteristics-of-dicer1-syndrome-based-on-systematic-review
#1
Siyu Cai, Wen Zhao, Xiaolu Nie, Ali Abbas, Libing Fu, Safaa Bihi, Guoshuang Feng, Tianyi Liu, Yaqi Lv, Xiaoli Ma, Xiaoxia Peng
It has been reported that germline DICER1 mutations correlate with a distinctive human disease syndrome. Many published studies within this field have been conducted based on rare cases. We systematically searched bibliographic databases, including PubMed, Embase, and COSMIC for articles which are related to diseases covered by DICER1 syndrome. The weighted summary of mutation frequencies among patients with pleuropulmonary blastoma (PPB), cystic nephroma (CN), and Sertoli-Leydig cell tumor (SLCT) were calculated...
November 30, 2016: Journal of Pediatric Hematology/oncology
https://www.readbyqxmd.com/read/27896549/embryonal-rhabdomyosarcoma-in-a-patient-with-a-heterozygous-frameshift-variant-in-the-dicer1-gene-and-additional-manifestations-of-the-dicer1-syndrome
#2
Julia Fremerey, Stefan Balzer, Triantafyllia Brozou, Joerg Schaper, Arndt Borkhardt, Michaela Kuhlen
Germline mutations in the DICER1 gene are associated with an inherited cancer predisposition syndrome also known as the DICER1-syndrome, which is implicated in a broad range of tumors including pleuropulmonary blastoma, ovarian Sertoli-Leydig cell tumors, ciliary body medulloepithelioma (CBME), pituitary blastoma, embryonal rhabdomyosarcoma (eRMS), anaplastic renal sarcoma as well as ocular, sinonasal tumors ovarian sex-cord tumors, thyroid neoplasia and cystic nephroma. This study describes a novel, heterozygous frameshift DICER1 mutation in a patient, who is affected by different tumors of the DICER1-syndrome, including eRMS, CBME and suspected pleuropulmonary blastoma type I...
November 28, 2016: Familial Cancer
https://www.readbyqxmd.com/read/27888191/wt1-directs-the-lineage-specification-of-sertoli-and-granulosa-cells-by-repressing-sf1-expression
#3
Min Chen, Lianjun Zhang, Xiuhong Cui, Xiwen Lin, Yaqiong Li, Yaqing Wang, Yanbo Wang, Yan Qin, Dahua Chen, Chunsheng Han, Bin Zhou, Vicki Huff, Fei Gao
Supporting cells (Sertoli and granulosa) and steroidogenic cells (Leydig and theca-interstitium) are two major somatic cell types in mammalian gonads. However, the mechanisms that control their differentiation during gonad development remain elusive. In this study, we found deletion of Wt1 in ovary after sex determination caused ectopic development of steroidogenic cells at embryonic stage. Furthermore, the differentiation of both Sertoli and granulosa cells was blocked when Wt1 was deleted before sex determination and most genital ridge somatic cells differentiated into steroidogenic cells in both male and female gonads...
November 25, 2016: Development
https://www.readbyqxmd.com/read/27885054/impact-of-uteroplacental-insufficiency-on-postnatal-rat-male-gonad
#4
Valentina Pampanini, Daniela Germani, Antonella Puglianiello, Jan-Bernd Stukenborg, Ahmed Reda, Iuliia Savchuk, Kristin Ros Kjartansdóttir, Stefano Cianfarani, Olle Soder
BACKGROUND: Prenatal events such as intrauterine growth restriction can affect gonadal development of the offspring and have an impact on reproductive health. PURPOSE: To investigate the effects of intrauterine growth restricted induced by uterine artery ligation on the postnatal rat testis. METHODS: Pregnant rats underwent uterine artery ligation at day 19 of gestation. Offspring were sacrificed at 5, 20 and 40 days post-partum (dpp). At sacrifice, one gonad was snap frozen in liquid nitrogen and processed for RNA and steroid extraction...
November 24, 2016: Journal of Endocrinology
https://www.readbyqxmd.com/read/27884405/zika-virus-causes-testis-damage-and-leads-to-male-infertility-in-mice
#5
Wenqiang Ma, Shihua Li, Shuoqian Ma, Lina Jia, Fuchun Zhang, Yong Zhang, Jingyuan Zhang, Gary Wong, Shanshan Zhang, Xuancheng Lu, Mei Liu, Jinghua Yan, Wei Li, Chuan Qin, Daishu Han, Chengfeng Qin, Na Wang, Xiangdong Li, George Fu Gao
Zika virus (ZIKV) persists in the semen of male patients, a first for flavivirus infection. Here, we demonstrate that ZIKV can induce inflammation in the testis and epididymidis, but not in the prostate or seminal vesicle, and can lead to damaged testes after 60 days post-infection in mice. ZIKV induces innate immune responses in Leydig, Sertoli, and epididymal epithelial cells, resulting in the production of pro-inflammatory cytokines/chemokines. However, ZIKV does not induce a rapid and abundant cytokine production in peritubular cell and spermatogonia, suggesting that these cells are vulnerable for ZIKV infection and could be the potential repositories for ZIKV...
November 18, 2016: Cell
https://www.readbyqxmd.com/read/27876458/relative-abundance-of-g-protein-coupled-receptor-30-and-localization-in-testis-and-epididymis-of-sheep-at-different-developmental-stages
#6
Peiyao Lu, Fuchuan Wang, Xianyi Song, Yang Liu, Kai Zhang, Ningxian Cao
The G protein-coupled receptor 30 (GPR30) is a transmembrane estrogen receptor that binds to estrogen, and has been confirmed to have an important role in testicular cell proliferation and development. The main objective of this study was to examine GPR30 gene expression and localization in the testis and epididymis of sheep at different developmental stages. Testes, including the epididymis, were collected from Polled Dorset x Mongolian cross rams at one (n=4; wt), three (n=4; wt), six (n=4; wt), nine (n=4; wt) and 12 (n=4; wt) months of age...
October 11, 2016: Animal Reproduction Science
https://www.readbyqxmd.com/read/27875292/dissociation-of-golgi-associated-dhhc-type-zinc-finger-protein-godz-and-sertoli-cell-gene-with-a-zinc-finger-domain-%C3%AE-serz-%C3%AE-mediated-palmitoylation-by-loss-of-function-analyses-in-knockout-mice
#7
Casey L Kilpatrick, Shoko Murakami, Mengyang Feng, Xia Wu, Rachnanjali Lal, Gong Chen, Keyong Du, Bernhard Luscher
The γ2 subunit of GABA-A receptors (GABAARs) is thought to be subject to palmitoylation by both, Golgi-associated DHHC-type zinc finger protein (GODZ, also known as DHHC3) and its paralog, Sertoli cell gene with a Zinc finger domain-β (SERZ-β, DHHC7) based on overexpression of enzymes and substrates in heterologous cells. We here have further investigated the substrate specificity of these enzymes by characterization of GODZ and SERZ-β knockout (KO) mice as well as double KO (DKO) neurons. Palmitoylation of γ2 and a second substrate, growth associated protein 43 (GAP-43) that is independently implicated in trafficking of GABAARs, was significantly reduced in brain of GODZ KO vs...
November 14, 2016: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/27873740/response-to-the-anastrozole-treatment-in-a-case-with-peutz-jeghers-syndrome-who-was-detected-to-have-large-cell-calcifying-sertoli-cell-tumor-and-developed-pre-pubertal-gynecomastia
#8
Merve Koç Yekedüz, Zeynep Şıklar, Berk Burgu, Zarife Kuloğlu, Pınar Kocaay, Emine Çamtosun, Mehmet İsakoca, Aydan Kansu, Tarkan Soygür, Merih Berberoğlu
Peutz-Jeghers Syndrome (PJS) is inherited as an autosomal dominant trait which is characterized by multiple gastrointestinal hamartomatous polyps, mucocutaneous pigmentation, and an increased risk of neoplasm. Large Cell Calcifying Sertoli Cell Tumor (LCCSCT) is a kind of sex cord-stromal tumor, often bilateral and multifocal, accounting for 0.4 -1.5% of entire testicular tumors which may co-exist with PJS and is characterized radiologically by calcification foci within the testes. Surgical treatment options for this tumor range from testis-preserving surgery to radical orchiectomy...
November 22, 2016: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/27869164/the-hot-spot-p53r172h-mutant-promotes-formation-of-giant-spermatogonia-triggered-by-dna-damage
#9
Y Xue, A Raharja, W Sim, E S M Wong, S A B Rahmat, D P Lane
Overexpression of mutant p53 is a common finding in most cancers but testicular tumours accumulate wild-type p53 (wtp53). In contrast to the accepted concept that p53 homozygous mutant mice do not accumulate mutant p53 in normal cells, our study on a mutant p53 mouse model of Li-Fraumeni syndrome harbouring the hot-spot p53R172H mutation described an elevated level of mutant p53 in non-cancerous mouse tissues. Here we use detailed immunohistochemical analysis to document the expression of p53R172H in mouse testis...
November 21, 2016: Oncogene
https://www.readbyqxmd.com/read/27867114/serine-protease-inhibitor-kazal-type-2-is-expressed-in-the-male-reproductive-tract-of-carp-with-a-possible-role-in-antimicrobial-protection
#10
Mariola A Dietrich, Mariola Słowińska, Halina Karol, Mikołaj Adamek, Dieter Steinhagen, Anna Hejmej, Barbara Bilińska, Andrzej Ciereszko
The presence of the low-molecular-mass serine protease inhibitor Kazal-type (Spink) is a characteristic feature of vertebrate semen. Its main function is control of the serine protease in the acrosome, acrosin. Here we showed for the first time that Spink is present in the seminal plasma of carp, which have anacrosomal spermatozoa. Using a three-step isolation procedure that consisted in gel filtration and RP-HPLC and re-RP-HPLC, we isolated this inhibitor and identified it as serine protease inhibitor Kazal-type 2 (Spink2), a reproductive-derived member of the Spink family...
November 17, 2016: Fish & Shellfish Immunology
https://www.readbyqxmd.com/read/27862157/gonadal-tumour-risk-in-292-phenotypic-female-patients-with-disorders-of-sex-development-containing-y-chromosome-or-y-derived-sequence
#11
He Huang, Chunqing Wang, Qinjie Tian
OBJECTIVE: Phenotypic female disorders of sex development (DSD) patients with Y chromosome or Y-derived sequence have an increased risk of gonadal germ cell tumours (GCTs). The objective of the study was to evaluate tumour risk of DSD, summarize the clinical characteristics of patients with GCTs and propose management suggestions. METHODS: Medical records of 292 patients diagnosed DSD and undergoing bilateral gonadectomy at Peking Union Medical College Hospital from January 1996 to March 2016 were retrospectively reviewed...
October 13, 2016: Clinical Endocrinology
https://www.readbyqxmd.com/read/27861489/characterizing-transcriptional-networks-in-male-rainbow-darter-etheostoma-caeruleum-that-regulate-testis-development-over-a-complete-reproductive-cycle
#12
Paulina A Bahamonde, Mark E McMaster, Mark R Servos, Christopher J Martyniuk, Kelly R Munkittrick
Intersex is a condition that has been associated with exposure to sewage effluents in male rainbow darter (Etheostoma caeruleum). To better understand changes in the transcriptome that are associated with intersex, we characterized annual changes in the testis transcriptome in wild, unexposed fish. Rainbow darter males were collected from the Grand River (Ontario, Canada) in May (spawning), August (post-spawning), October (recrudescence), January (developing) and March (pre-spawning). Histology was used to determine the proportion of spermatogenic cell types that were present during each period of testicular maturation...
2016: PloS One
https://www.readbyqxmd.com/read/27858560/ovarian-sex-cord-stromal-tumors
#13
Kris Ann P Schultz, Anne K Harris, Dominik T Schneider, Robert H Young, Jubilee Brown, David M Gershenson, Louis P Dehner, D Ashley Hill, Yoav H Messinger, A Lindsay Frazier
Ovarian sex cord-stromal tumors are clinically significant heterogeneous tumors that include several pathologic types. These tumors are often found in adolescents and young adults and can present with hormonal manifestations as well as signs and symptoms of a pelvic mass. Serum tumor markers may assist in preoperative diagnosis and surveillance. Several subtypes are associated with genetic predisposition, including those observed in patients with Peutz-Jegher syndrome. Recent studies have elucidated the relationship between Sertoli-Leydig cell tumors and DICER1 mutations...
October 2016: Journal of Oncology Practice
https://www.readbyqxmd.com/read/27853306/osr1-and-spak-cooperatively-modulate-sertoli-cell-support-of-mouse-spermatogenesis
#14
Yung-Liang Liu, Sung-Sen Yang, Shyi-Jou Chen, Yu-Chun Lin, Chin-Chen Chu, Hsin-Hui Huang, Fung-Wei Chang, Mu-Hsien Yu, Shih-Hua Lin, Gwo-Jang Wu, Huey-Kang Sytwu
We investigated the role of oxidative stress-responsive kinase-1 (OSR1) and STE20 (sterile 20)/SPS1-related proline/alanine-rich kinase (SPAK), upstream regulators of the Na(+)-K(+)-2Cl(-) cotransporter (NKCC1)-essential for spermatogenesis-in mouse models of male fertility. Global OSR1(+/-) gene mutations, but not global SPAK(-/-) or Sertoli cell (SC)-specific OSR1 gene knockout (SC-OSR1(-/-)), cause subfertility with impaired sperm function and are associated with reduced abundance of phosphorylated (p)-NKCC1 but increased p-SPAK expression in testicular tissue and spermatozoa...
November 17, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27832966/nonylphenol-induced-apoptosis-and-autophagy-involving-the-akt-mtor-pathway-in-prepubertal-sprague-dawley-male-rats-in-vivo-and-in-vitro
#15
Wenting Huang, Chao Quan, Peng Duan, Sha Tang, Wei Chen, Kedi Yang
This research explores the detrimental effect of nonylphenol (NP) to prepubertal Sprague-Dawley male rats in vivo and in vitro. Herein, forty-two 3-week-old rats were randomly divided into six groups, which were treated with NP (0, NAC, 25, 50, 100, 100+NACmg/kg/2d for 30 consecutive days) by intraperitoneal injection. NP induced a reduction in testosterone (15.58%, 17.23%, 13.38% in 25, 50, 100mg/kg group, respectively), triggered apoptosis related to oxidative stress, and disturbed mRNA and/or protein levels of PI3K, PTEN, PDK1, p-Akt, p-mTOR, p70S6K, caspase-3, LC3B...
November 8, 2016: Toxicology
https://www.readbyqxmd.com/read/27826822/an-updated-systematic-review-on-the-possible-effect-of-nonylphenol-on-male-fertility
#16
Zahra Noorimotlagh, Neemat Jaafarzadeh Haghighi, Mehdi Ahmadimoghadam, Fakher Rahim
Diverse industries like detergents, resins and polymers, hair dyes, intravaginal spermicides, and pesticides produce endocrine disruptor (ED)-containing wastewaters that have hazardous effects on the environment and public health. Nonylphenol (NP) is a chemical substance that consists of a phenolic group and an attached lipophilic linear nonyl chain. NP has weak estrogenic activity and affects estrogen receptor (ER), as well as induces male infertility via a negative impact on spermatogenesis and sperm quality...
November 8, 2016: Environmental Science and Pollution Research International
https://www.readbyqxmd.com/read/27825414/surgical-therapy-of-17%C3%AE-hydroxylase-deficiency-in-30-patients
#17
Jian-Fa Jiang, Yan Deng, Wei Xue, Yan-Fang Wang, Qin-Jie Tian, Ai-Jun Sun
Objective To analyze the clinical features of 17α-hydroxylase deficiency and explore the appropriate timing and methods of surgical treatment. Methods We retrospectively analyzed the clinical data of patients with complete 17α-hydroxylase deficiency,containing Y chromosome material in their karyotype,adimitted to Peking Union Medical College Hospital from January 2004 to December 2014. Results Thirty patients with complete 17α-hydroxylase deficiency were included. Their social gender were all female and the mean age at diagnosis was (16...
October 10, 2016: Zhongguo Yi Xue Ke Xue Yuan Xue Bao. Acta Academiae Medicinae Sinicae
https://www.readbyqxmd.com/read/27818224/perfluorooctane-sulfonate-pfos-disrupts-blood-testis-barrier-by-down-regulating-junction-proteins-via-p38-mapk-atf2-mmp9-signaling-pathway
#18
Lianglin Qiu, Yingyun Qian, Zhenzhen Liu, Chao Wang, Jianhua Qu, Xiaoke Wang, Shoulin Wang
Perfluorooctane sulfonate (PFOS), an ubiquitous environmental pollutant, has been associated with male reproductive disorders. However, the underlying mechanisms are not yet fully understood. In this study, in vivo and in vitro models were used to explore the effects of PFOS on blood-testis barrier (BTB) and related molecular mechanisms. First, male ICR mice were orally administrated PFOS (0.5-10mg/kg/bw) for 4 weeks. Bodyweight, sperm count, BTB integrity and the expression of proteins including p38 mitogen-activated protein kinase (MAPK), activating transcription factor 2 (ATF2), matrix metalloproteinase 9 (MMP9), tissue inhibitor of metalloproteinase 1(TIMP1) and BTB related junction proteins were evaluated...
November 3, 2016: Toxicology
https://www.readbyqxmd.com/read/27815338/regulation-of-the-blood-testis-barrier-by-a-local-axis-in-the-testis-role-of-laminin-%C3%AE-2-in-the-basement-membrane
#19
Ying Gao, Dolores Mruk, Haiqi Chen, Wing-Yee Lui, Will M Lee, C Yan Cheng
Laminin α2 is one of the constituent components of the basement membrane (BM) in adult rat testes. Earlier studies that used a mouse genetic model have shown that a deletion of laminin α2 impedes male fertility by disrupting ectoplasmic specialization (ES; a testis-specific, actin-rich anchoring junction) function along the length of Sertoli cell in the testis. This includes ES at the Sertoli cell-elongating/elongated spermatid interface, which is known as apical ES and possibly the Sertoli-Sertoli cell interface, known as basal ES, at the blood-testis barrier (BTB)...
November 4, 2016: FASEB Journal: Official Publication of the Federation of American Societies for Experimental Biology
https://www.readbyqxmd.com/read/27813081/genetics-and-genomics-of-ovarian-sex-cord-stromal-tumors
#20
REVIEW
Peter J Fuller, Dilys Leung, Simon Chu
Ovarian sex cord-stromal tumors represent ~8% of malignant ovarian tumors. The most common are granulosa cell tumors (GCT) which account for ~90% of malignant sex cord-stromal tumors. Recent studies have unravelled the key genomic and genetic events contributing to their pathogenesis. Sex cord-stromal tumors are found in the hereditary syndromes: Peutz-Jeghers Syndrome, Ollier disease and Maffucci syndrome, and DICER1 syndrome. Genomic studies have largely been limited to GCT where a number of recurring chromosomal abnormalities (monsomy and trisomy) have been identified although their contribution to pathogenesis remains unclear...
November 4, 2016: Clinical Genetics
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