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https://www.readbyqxmd.com/read/29470501/tissue-specific-and-mosaic-imprinting-defects-underlie-opposite-congenital-growth-disorders-in-mice
#1
Andrea Freschi, Stella K Hur, Federica Maria Valente, Folami Y Ideraabdullah, Angela Sparago, Maria Teresa Gentile, Andrea Oneglia, Diego Di Nucci, Luca Colucci-D'Amato, Joanne L Thorvaldsen, Marisa S Bartolomei, Andrea Riccio, Flavia Cerrato
Differential DNA methylation defects of H19/IGF2 are associated with congenital growth disorders characterized by opposite clinical pictures. Due to structural differences between human and mouse, the mechanisms by which mutations of the H19/IGF2 Imprinting Control region (IC1) result in these diseases are undefined. To address this issue, we previously generated a mouse line carrying a humanized IC1 (hIC1) and now replaced the wildtype with a mutant IC1 identified in the overgrowth-associated Beckwith-Wiedemann syndrome...
February 22, 2018: PLoS Genetics
https://www.readbyqxmd.com/read/29469716/associated-conditions-in-patients-with-multiple-dermatofibromas-case-reports-and-literature-review
#2
Surget V Beatrous, Ryan R Riahi, Stratton B Grisoli, Philip R Cohen
Dermatofibromas are benign, fibrohistiocytic, dermal tumors. Solitary dermatofibromas may be incidental findings, whereas multiple dermatofibromas may be associated with systemic conditions or previous therapies. Two women and one man with multiple dermatofibromas and an associated systemic condition, immunosuppression, or both, are described. Nine dermatofibromas developed in a woman with hypothyroidism, optic neuritis, and Arnold Chiari I malformation. Five dermatofibromas developed in a woman with breast cancer who had received several systemic antineoplastic therapies...
September 22, 2017: Dermatology Online Journal
https://www.readbyqxmd.com/read/29468060/identification-of-i-x-p10-as-the-sole-molecular-abnormality-in-atypical-chronic-myeloid-leukemia-evolved-into-acute-myeloid-leukemia
#3
Carmelo Gurnari, Paola Panetta, Emiliano Fabiani, Anna Maria Nardone, Diana Postorivo, Giulia Falconi, Luca Franceschini, Manuela Rizzo, Vito Mario Rapisarda, Eleonora De Bellis, Francesco Lo-Coco, Maria Teresa Voso
The World Health Organization classifies atypical chronic myeloid leukemia (aCML) as a myeloproliferative/myelodisplastic hematological disorder. The primary manifestations are leukocytosis with disgranulopoiesis, absence of basophilia and/or monocytosis, splenomegaly and absence of Philadelphia chromosome or BCR/ABL fusion. Overall 50-65% of patients demonstrate karyotypic abnormalities, although no specific cytogenetic alterations have been associated with this disease. X chromosome alterations have been rarely reported in myeloid malignancies...
March 2018: Molecular and Clinical Oncology
https://www.readbyqxmd.com/read/29460462/cri-du-chat-syndrome-characteristics-of-73-brazilian-patients
#4
R S Honjo, C B Mello, L S E Pimenta, E C Nuñes-Vaca, L M Benedetto, R B F Khoury, D M Befi-Lopes, C A Kim
BACKGROUND: Cri du Chat syndrome (CdCS) is a genetic syndrome caused by deletions in the short arm of chromosome 5. Although the main clinical features of CdCS are well known, the neurocognitive and behavioural characteristics of the phenotype are rarely described in detail in the literature. In this study, we analysed the main phenotypic features of CdCS from a parental perspective. METHOD: A questionnaire was sent to 700 Brazilian families that were registered in the Brazilian Association of CdCS...
February 20, 2018: Journal of Intellectual Disability Research: JIDR
https://www.readbyqxmd.com/read/29460304/sperm-retrieval-by-microdissection-testicular-sperm-extraction-and-intracytoplasmic-sperm-injection-outcomes-in-nonobstructive-azoospermic-patients-with-klinefelter-syndrome
#5
C Ozer, P Caglar Aytac, M R Goren, S Toksoz, U Gul, T Turunc
Klinefelter syndrome is the most frequent chromosomal abnormality in patients with nonobstructive azoospermia. The development of advanced assisted reproductive techniques, such as testicular sperm extraction and intracytoplasmic sperm injection, has provided the possibility of biological fathering in nonobstructive azoospermic patients with Klinefelter syndrome. We aimed to evaluate our sperm retrieval rate by microdissection testicular sperm extraction and to analyse the intracytoplasmic sperm injection outcomes in these patients...
February 20, 2018: Andrologia
https://www.readbyqxmd.com/read/29460221/the-genetics-of-aniridia-simple-things-become-complicated
#6
REVIEW
Anna Wawrocka, Maciej R Krawczynski
Aniridia is a rare, panocular disorder characterized by a variable degree of hypoplasia or the absence of iris tissue associated with additional ocular abnormalities. It is inherited in an autosomal dominant manner, with high penetrance and variable expression even within the same family. In most cases the disease is caused by haploinsufficiency truncating mutations in the PAX6 gene; however, in up to 30% of aniridia patients, disease results from chromosomal rearrangements at the 11p13 region. The aim of this review is to present the clinical and genetic aspects of the disease...
February 19, 2018: Journal of Applied Genetics
https://www.readbyqxmd.com/read/29458235/altered-cortical-development-in-fetuses-with-isolated-non-severe-ventriculomegaly-assessed-by-neurosonography
#7
Nadine Hahner, Bienvenido Puerto, Miriam Perez-Cruz, Catarina Policiano, Elena Monterde, Fatima Crispi, Eduard Gratacos, Elisenda Eixarch
OBJECTIVES: To perform a comprehensive assessment of cortical development in fetuses with isolated non-severe ventriculomegaly (INSVM) by neurosonography. METHODS: We prospectively included 40 fetuses with INSVM and 40 controls. INSVM was defined as atrial width between 10.0 and 14.9mm without associated malformation, infection or chromosomal abnormality. Cortical development was assessed by neurosonography at 26 and 30 weeks of gestation measuring depth of selected sulci and applying a maturation scale from 0 (no appearance) to 5 (maximally developed) of main sulci and areas...
February 19, 2018: Prenatal Diagnosis
https://www.readbyqxmd.com/read/29441129/rare-partial-octosomy-and-hexasomy-of-15q11-q13-associated-with-intellectual-impairment-and-development-delay-report-of-two-cases-and-review-of-literature
#8
Haiyu Li, Juan Du, Wen Li, Dehua Cheng, Wenbin He, Duo Yi, Bo Xiong, Shimin Yuan, Chaofeng Tu, Lanlan Meng, Aixiang Luo, Ge Lin, Guangxiu Lu, Yue-Qiu Tan
Background: Small supernumerary marker chromosomes (sSMCs) are common structurally abnormal chromosomes that occur in 0.288% of cases of mental retardation. Isodicentric 15 (idic(15)) is common in sSMCs and usually leads to a rare chromosome disorder with distinctive clinical phenotypes, including early central hypotonia, developmental delay, epilepsy, and autistic behavior. It was previously shown that the partial tetrasomy 15q and partial hexasomy 15q syndromes are usually caused by one and two extra idic(15), respectively...
2018: Molecular Cytogenetics
https://www.readbyqxmd.com/read/29428722/pum1-promotes-ovarian-cancer-proliferation-migration-and-invasion
#9
Xue Guan, Shuo Chen, Yao Liu, Li-Li Wang, Yang Zhao, Zhi-Hong Zong
BACKGROUND: Abnormal expression of the PUM1 gene (pumilio RNA binding family member 1) is closely related to chromosomal mutations and carcinogenesis. However, there is no report about expression or function of PUM1 in ovarian cancer. The present study explored the role of PUM1 in the development and progression of ovarian cancer. METHODS: Immunohistochemistry was used to detect the expression of PUM1 in normal ovarian tissues and ovarian cancer tissues. The PUM1 gene was silenced using small interfering RNAs in ovarian cancer cell line A2780...
February 8, 2018: Biochemical and Biophysical Research Communications
https://www.readbyqxmd.com/read/29427756/crispr-cas9-ablation-of-individual-mirnas-from-a-mirna-family-reveals-their-individual-efficacies-for-regulating-cardiac-differentiation
#10
Ziyao Zhang, Rebecca Ursin, Samiksha Mahapatra, G Ian Gallicano
Although it is well understood that genetic mutations, chromosomal abnormalities, and epigenetic miscues can cause congenital birth defects, many defects are still labeled idiopathic, meaning their origin is not yet understood. microRNAs are quickly entering the causal fray of developmental defects. miRNAs use a 7-8 base-pair seed sequence to target a corresponding sequence on one or multiple mRNAs resulting in rapid down-regulation of translation. miRNAs can also control protein 'amounts' in cells. As a result if miRNAs are over or under expressed during development protein homeostasis can be compromised resulting in defects in the development of organ systems...
February 7, 2018: Mechanisms of Development
https://www.readbyqxmd.com/read/29419861/-data-analysis-of-non-invasive-prenatal-testing-based-on-special-loci-in-cell-free-fetal-dna
#11
Liming Xuan, Lingyin Kong, Yingying Xia, Yan Mao, Jingjing Shen, Yijun Zhu, Yongfeng Xue, Danfeng Sun, Huimin Liu, Bo Liang
OBJECTIVE To analyze the data of non-invasive prenatal testing based on specific loci of circulating cell-free fetal DNA (cffDNA). METHODS Selected loci of target chromosomes were analyzed by sequence capture and sequencing. Meanwhile, 600 loci were selected from other chromosomes for determining the concentration of cffDNA. RESULTS A total of 768 specific loci were captured on chromosomes 21 and 18, and used to determine whether the two were abnormal. When the minimum concentration of detected cffDNA was set at 3% and the threshold of Z score was set to [-6,6], the specificity of the analysis was 99...
February 10, 2018: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/29409347/fryl-deficiency-is-associated-with-defective-kidney-development-and-function-in-mice
#12
Yong-Sub Byun, Eun-Kyoung Kim, Kimi Araki, Ken-Ichi Yamamura, Kihoon Lee, Won-Kee Yoon, Young-Suk Won, Hyoung-Chin Kim, Kyung-Chul Choi, Ki-Hoan Nam
FRY like transcription coactivator ( Fryl) gene located on chromosome 5 is a paralog of FRY microtubule binding protein ( Fry) in vertebrates. It encodes a protein with unknown functions. Fryl gene is conserved in various species ranging from eukaryotes to human. Although there are several reports on functions of Fry gene, functions of Fryl gene remain unclear. A mouse line containing null mutation in Fryl gene by gene trapping was produced in this study for the first time. The survival and growth of Fryl-/- mice were observed...
January 1, 2018: Experimental Biology and Medicine
https://www.readbyqxmd.com/read/29407586/8q24-myc-rearrangement-is-a-recurrent-cytogenetic-abnormality-in-blastic-plasmacytoid-dendritic-cell-neoplasms
#13
Prajwal C Boddu, Sa A Wang, Naveen Pemmaraju, Zhenya Tang, Shimin Hu, Shaoying Li, Jie Xu, L Jeffrey Medeiros, Guilin Tang
8q24/MYC rearrangements resulting in MYC overexpression occur most frequently in lymphoid neoplasms. MYC rearrangements rarely have been described in blastic plasmacytoid dendritic cell neoplasm (BPDCN). Over an 8-year period in our hospital, 5 of 41 (12%) patients with BPDCN were shown 8q24/MYC rearrangements, including 2 with t(6;8)(p21;q24), 1 with t(8;14)(q24;q32), 1 with t(X;8)(q24;q24), and 1 with t(3;8)(p25;q24). 8q24/MYC rearrangement was present in the stemline in 4 patients and in the sideline in one; the latter was a patient with primary myelofibrosis who then developed BPDCN...
February 2, 2018: Leukemia Research
https://www.readbyqxmd.com/read/29396392/upregulation-of-kinesin-family-member-4a-enhanced-cell-proliferation-via-activation-of-akt-signaling-and-predicted-a-poor-prognosis-in-hepatocellular-carcinoma
#14
Yanlin Huang, Hongbo Wang, Yifan Lian, Xiaojuan Wu, Liang Zhou, Jialiang Wang, Meihai Deng, Yuehua Huang
Hepatocellular carcinoma (HCC) is the third most frequent cause of cancer-related death worldwide, and the molecular pathogenesis and development of HCC are largely unknown. In the present study, we found that KIF4A expression was upregulated in HCC (678 samples, P = 2.03E-8) based on a meta-analysis of Oncomine database. We further confirmed that both KIF4A mRNA and protein expressions were overexpressed in human HCC tumour tissues as well as cancer cell lines. Higher KIF4A expression was correlated with poorer overall survival (P < 0...
February 2, 2018: Cell Death & Disease
https://www.readbyqxmd.com/read/29394371/oned-increasing-reproducibility-of-hi-c-samples-with-abnormal-karyotypes
#15
Enrique Vidal, François le Dily, Javier Quilez, Ralph Stadhouders, Yasmina Cuartero, Thomas Graf, Marc A Marti-Renom, Miguel Beato, Guillaume J Filion
The three-dimensional conformation of genomes is an essential component of their biological activity. The advent of the Hi-C technology enabled an unprecedented progress in our understanding of genome structures. However, Hi-C is subject to systematic biases that can compromise downstream analyses. Several strategies have been proposed to remove those biases, but the issue of abnormal karyotypes received little attention. Many experiments are performed in cancer cell lines, which typically harbor large-scale copy number variations that create visible defects on the raw Hi-C maps...
January 31, 2018: Nucleic Acids Research
https://www.readbyqxmd.com/read/29390495/a-boy-with-13-34-mb-interstitial-deletion-of-chromosome-4p15-a-new-case-report-and-review-of-the-literature
#16
Anca Florentina Mitroi, Mariana Aschie, Adriana Apostol, Costel Brinzan, Georgeta Cozaru, Adrian Nelutu Mitroi
RATIONALE: To date, >40 cases have been described with interstitial deletions involving the 4p15 region. PATIENT CONCERNS AND DIAGNOSIS: We report a case of a 3-year-old boy with an interstitial de novo deletion of approximately 13.34 Mb in 4p15.1-15.31 having mild developmental delay and multiple minor congenital abnormalities. LESSONS: This case presents a clinical manifestation that is similar but not identical to other reported cases...
December 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29390291/are-parents-of-children-with-cockayne-syndrome-manifesting-features-of-the-disorder-case-reports
#17
Ali Al Kaissi, Mirya Kuranova, Nadezhda Pleskach, Vladimir Kenis, Nabil M Nassib, Franz Grill, Rudolf Ganger, Susanne Gerit Kircher
RATIONALE: Postnatal growth failure and progressive neurologic dysfunction and increasing multiorgan involvement are the main clinical features of Cockayne syndrome (CS). CS is a rare autosomal recessive disorder of the group of DNA repair diseases. Usually, genetic carriers, such as parents of patients, are not at risk for developing the disease. PATIENT CONCERNS: A series of 14 family subjects (6 children with age range from 6 months to 4 years with CS) and 9 parents (aged from 23 to 34 years) from consanguineous families is reported...
December 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29388226/predicting-fetoplacental-chromosomal-mosaicism-during-non-invasive-prenatal-testing
#18
Nathalie Brison, Maria Neofytou, Luc Dehaspe, Baran Bayindir, Kris Van Den Bogaert, Leila Dardour, Hilde Peeters, Hilde Van Esch, Griet Van Buggenhout, Annick Vogels, Thomy de Ravel, Eric Legius, Koen Devriendt, Joris R Vermeesch
OBJECTIVE: Non-invasive prenatal detection of aneuploidies can be achieved with high accuracy through sequencing of cfDNA in the maternal blood plasma. However, false positive and negative NIPT results remain. Fetoplacental mosaicism is the main cause for false positive and false negative NIPT. We set out to develop a method to detect placental chromosomal mosaicism via genome-wide circulating cell-free maternal plasma DNA (cfDNA) screening. METHOD: Aneuploidy detection was combined with fetal fraction determination to enable the detection of placental mosaicism...
January 31, 2018: Prenatal Diagnosis
https://www.readbyqxmd.com/read/29386716/guidelines-for-medical-management-of-nuclear-radiation-emergencies
#19
REVIEW
Velu Nair, D N Karan, C S Makhani
Management of victim of radiation injury poses a wide spectrum of challenges to the health care provider starting with the evaluation of the damage, the kind of hospitalization and treatment and the regular monitoring of the patient. Undesirable clinical outcomes are probable if prodromal stage evolves rapidly and is severe. Critical systems like neurovascular, gastrointestinal, haematopoietic and cutaneous are afflicted in Acute Radiation Syndrome. Three main elements which are essential for assessment of prognosis and selection of treatment are vomiting onset time, kinetics of depletion of lymphocyte, and chromosome abnormalities...
October 2017: Medical Journal, Armed Forces India
https://www.readbyqxmd.com/read/29381401/noninvasive-prenatal-testing-of-rare-autosomal-aneuploidies-by-semiconductor-sequencing
#20
Mei-Juan Xie, Zhi-Kun Liang, Dan He, Wei-Wen Xu, Ying-Song Wu, Xue-Xi Yang, Ming Li
Rare autosomal aneuploidies (RAAs) can cause miscarriage or other pregnancy complications and lead to inconsistent results of noninvasive prenatal testing (NIPT), but many NIPT providers have not yet started to provide related services. Our aim was to develop a semiconductor sequencing platform (SSP)-based method for detecting RAAs when pregnant women performed NIPT. Fifty-three aneuploidy samples with verified karyotyping or array comparative genomic hybridization (aCGH) results were collected and subjected to RAAs detection using an SSP to develop a method by genomic sequencing...
January 30, 2018: DNA and Cell Biology
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