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chromosomal anomalies in human development

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https://www.readbyqxmd.com/read/28781809/a-novel-protein-expression-signature-differentiates-benign-lipomas-from-well-differentiated-liposarcomas
#1
Quang Mather, Jonathon Priego, Kristi Ward, Verma Kundan, Dat Tran, Alok Dwivedi, Brad A Bryan
Benign lipomas and well-differentiated liposarcomas share many histological and molecular features. Due to their similarities, patients with these lipomatous tumors are misdiagnosed up to 40% of the time following radiological detection, up to 17% of the time following histological examination, and in as many as 15% of cases following fluorescent in situ hybridization for chromosomal anomalies. Incorrect classification of these two tumor types leads to increased costs to the patient and delayed accurate diagnoses...
September 2017: Molecular and Clinical Oncology
https://www.readbyqxmd.com/read/28674289/molecular-mechanism-underlying-abnormal-differentiation-of-neural-progenitor-cells-in-the-developing-down-syndrome-brain
#2
Nobuhiro Kurabayashi, Kamon Sanada
 Down syndrome (DS) is caused by trisomy for human chromosome 21. Individuals with DS commonly exhibit mental retardation, which is associated with abnormal brain development. In the neocortex of the DS brain, the density of neurons is markedly reduced, whereas that of astrocytes is increased. Similar to abnormalities seen in DS brains, mouse models of DS show deficits in brain development, and neural progenitor cells that give rise to neurons and glia show dysregulation in their differentiation. These suggest that the dysregulation of progenitor fate choices contributes to alterations in the numbers of neurons and astrocytes in the DS brain...
2017: Yakugaku Zasshi: Journal of the Pharmaceutical Society of Japan
https://www.readbyqxmd.com/read/28630177/integrated-genome-and-transcriptome-sequencing-identifies-a-noncoding-mutation-in-the-genome-replication-factor-donson-as-the-cause-of-microcephaly-micromelia-syndrome
#3
Gilad D Evrony, Dwight R Cordero, Jun Shen, Jennifer N Partlow, Timothy W Yu, Rachel E Rodin, R Sean Hill, Michael E Coulter, Anh-Thu N Lam, Divya Jayaraman, Dianne Gerrelli, Diana G Diaz, Chloe Santos, Victoria Morrison, Antonella Galli, Ulrich Tschulena, Stefan Wiemann, M Jocelyne Martel, Betty Spooner, Steven C Ryu, Princess C Elhosary, Jillian M Richardson, Danielle Tierney, Christopher A Robinson, Rajni Chibbar, Dana Diudea, Rebecca Folkerth, Sheldon Wiebe, A James Barkovich, Ganeshwaran H Mochida, James Irvine, Edmond G Lemire, Patricia Blakley, Christopher A Walsh
While next-generation sequencing has accelerated the discovery of human disease genes, progress has been largely limited to the "low hanging fruit" of mutations with obvious exonic coding or canonical splice site impact. In contrast, the lack of high-throughput, unbiased approaches for functional assessment of most noncoding variants has bottlenecked gene discovery. We report the integration of transcriptome sequencing (RNA-seq), which surveys all mRNAs to reveal functional impacts of variants at the transcription level, into the gene discovery framework for a unique human disease, microcephaly-micromelia syndrome (MMS)...
August 2017: Genome Research
https://www.readbyqxmd.com/read/28592524/loss-of-function-in-robo1-is-associated-with-tetralogy-of-fallot-and-septal-defects
#4
Paul Kruszka, Pranoot Tanpaiboon, Katherine Neas, Kathleen Crosby, Seth I Berger, Ariel F Martinez, Yonit A Addissie, Yupada Pongprot, Rekwan Sittiwangkul, Suchaya Silvilairat, Krit Makonkawkeyoon, Lan Yu, Julia Wynn, James T Bennett, Heather C Mefford, William T Reynolds, Xiaoqin Liu, Mathilda T M Mommersteeg, Wendy K Chung, Cecilia W Lo, Maximilian Muenke
BACKGROUND: Congenital heart disease (CHD) is a common birth defect affecting approximately 1% of newborns. Great progress has been made in elucidating the genetic aetiology of CHD with advances in genomic technology, which we leveraged in recovering a new pathway affecting heart development in humans previously known to affect heart development in an animal model. METHODS: Four hundred and sixteen individuals from Thailand and the USA diagnosed with CHD and/or congenital diaphragmatic hernia were evaluated with chromosomal microarray and whole exome sequencing...
June 7, 2017: Journal of Medical Genetics
https://www.readbyqxmd.com/read/28327570/puf60-variants-cause-a-syndrome-of-id-short-stature-microcephaly-coloboma-craniofacial-cardiac-renal-and-spinal-features
#5
Karen J Low, Morad Ansari, Rami Abou Jamra, Angus Clarke, Salima El Chehadeh, David R FitzPatrick, Mark Greenslade, Alex Henderson, Jane Hurst, Kory Keller, Paul Kuentz, Trine Prescott, Franziska Roessler, Kaja K Selmer, Michael C Schneider, Fiona Stewart, Katrina Tatton-Brown, Julien Thevenon, Magnus D Vigeland, Julie Vogt, Marjolaine Willems, Jonathan Zonana, D D D Study, Sarah F Smithson
PUF60 encodes a nucleic acid-binding protein, a component of multimeric complexes regulating RNA splicing and transcription. In 2013, patients with microdeletions of chromosome 8q24.3 including PUF60 were found to have developmental delay, microcephaly, craniofacial, renal and cardiac defects. Very similar phenotypes have been described in six patients with variants in PUF60, suggesting that it underlies the syndrome. We report 12 additional patients with PUF60 variants who were ascertained using exome sequencing: six through the Deciphering Developmental Disorders Study and six through similar projects...
May 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28270404/pbx1-haploinsufficiency-leads-to-syndromic-congenital-anomalies-of-the-kidney-and-urinary-tract-cakut-in-humans
#6
Pauline Le Tanno, Julie Breton, Marie Bidart, Véronique Satre, Radu Harbuz, Pierre F Ray, Caroline Bosson, Klaus Dieterich, Sylvie Jaillard, Sylvie Odent, Gemma Poke, Rachel Beddow, Maria Christina Digilio, Antonio Novelli, Laura Bernardini, Maria Antonietta Pisanti, Luisa Mackenroth, Karl Hackmann, Ida Vogel, Rikke Christensen, Siv Fokstuen, Frédérique Béna, Florence Amblard, Francoise Devillard, Gaelle Vieville, Alexia Apostolou, Pierre-Simon Jouk, Fitsum Guebre-Egziabher, Hervé Sartelet, Charles Coutton
BACKGROUND: Congenital anomalies of the kidney and urinary tract (CAKUT) represent a significant healthcare burden since it is the primary cause of chronic kidney in children. CNVs represent a recurrent molecular cause of CAKUT but the culprit gene remains often elusive. Our study aimed to define the gene responsible for CAKUT in patients with an 1q23.3q24.1 microdeletion. METHODS: We describe eight patients presenting with CAKUT carrying an 1q23.3q24.1 microdeletion as identified by chromosomal microarray analysis (CMA)...
March 7, 2017: Journal of Medical Genetics
https://www.readbyqxmd.com/read/28266009/a-detailed-musculoskeletal-study-of-a-fetus-with-anencephaly-and-spina-bifida-craniorachischisis-and-comparison-with-other-cases-of-human-congenital-malformations
#7
Malak A Alghamdi, Janine M Ziermann, Lydia Gregg, Rui Diogo
Few descriptions of the musculoskeletal system of humans with anencephaly or spina bifida exist in the literature. Even less is published about individuals in which both phenomena occur together, i.e. about craniorachischisis. Here we provide a detailed report on the musculoskeletal structures of a fetus with craniorachischisis, as well as comparisons with the few descriptions for anencephaly and with musculoskeletal anomalies found in other congenital malformations. We focused in particular on the comparison with trisomies 13, 18, and 21 because neural tube defects have been associated with such chromosomal defects...
June 2017: Journal of Anatomy
https://www.readbyqxmd.com/read/27891448/can-feulgen-stain-be-a-reliable-biomarker-over-pap-stain-for-estimation-of-micronuclei-score
#8
Manish Kumar, Umesh Chandra Prasad, Betina Chandolia, S M Manjunath, Shiva Basu, Silvie Verma
INTRODUCTION: Malignant transformation of the Potentially Malignant Lesions (PML) in the oral cavity is associated with elevated mortality rate because of its aggressive and exceedingly invasive nature. Meticulous diagnosis and prompt therapy of PML may help prevent malignant conversion in oral lesions. Carcinogenic insult to oral cells results in chromosomal damage and formation of Micronuclei (Mn), before the development of clinical symptoms. AIM: To determine the genotoxic effect of smoking and chewing tobacco on target tissue using Mn assay and to evaluate the prevalence of other nuclear anomalies associated with it and to determine the reliability of feulgen stain for Mn assay over Papaincolau (PAP) stain...
October 2016: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/27790464/cytogenetic-analysis-for-suspected-chromosomal-abnormalities-a-five-years-experience
#9
Sunil Kumar Polipalli, Vijay Kumar Karra, Ankur Jindal, Madhavi Puppala, Pratiksha Singh, Kanchan Rawat, Seema Kapoor
INTRODUCTION: Chromosomal abnormalities are the results of alterations in the number or structure of chromosomes causing significant human morbidity and mortality. They are responsible for a large proportion of miscarriages, developmental delay, disorders of sexual development, congenital malformations and mental retardation. AIM: The aim of this study was to describe the prevalence of different chromosomal abnormalities in North Indian patients referred for cytogenetic analysis...
September 2016: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/27550220/congenital-heart-defects-and-left-ventricular-non-compaction-in-males-with-loss-of-function-variants-in-nono
#10
Daryl A Scott, Andres Hernandez-Garcia, Mahshid S Azamian, Valerie K Jordan, Bum Jun Kim, Molly Starkovich, Jinglan Zhang, Lee-Jun Wong, Sandra A Darilek, Amy M Breman, Yaping Yang, James R Lupski, Amyn K Jiwani, Bibhuti Das, Seema R Lalani, Alejandro D Iglesias, Jill A Rosenfeld, Fan Xia
BACKGROUND: The non-POU domain containing octamer-binding gene (NONO) is located on chromosome Xq13.1 and encodes a member of a small family of RNA-binding and DNA-binding proteins that perform a variety of tasks involved in RNA synthesis, transcriptional regulation and DNA repair. Loss-of-function variants in NONO have been described as a cause of intellectual disability in males but have not been described in association with congenital heart defects or cardiomyopathy. In this article, we seek to further define the phenotypic consequences of NONO depletion in human subjects...
January 2017: Journal of Medical Genetics
https://www.readbyqxmd.com/read/27379245/genetic-evaluation-and-use-of-chromosome-microarray-in-patients-with-isolated-heart-defects-benefits-and-challenges-of-a-new-model-in-cardiovascular-care
#11
REVIEW
Benjamin M Helm, Samantha L Freeze
Congenital heart defects (CHDs) are common birth defects and result in significant morbidity and global economic impact. Genetic factors play a role in most CHDs; however, identification of these factors has been historically slow due to technological limitations and incomplete understanding of the impact of human genomic variation on normal and abnormal cardiovascular development. The advent of chromosome microarray (CMA) brought tremendous gains in identifying chromosome abnormalities in a variety of human disorders and is now considered part of a standard evaluation for individuals with multiple congenital anomalies and/or neurodevelopmental disorders...
2016: Frontiers in Cardiovascular Medicine
https://www.readbyqxmd.com/read/27049303/mutation-of-kremen1-a-modulator-of-wnt-signaling-is-responsible-for-ectodermal-dysplasia-including-oligodontia-in-palestinian-families
#12
Yasmin A Issa, Lara Kamal, Amal Abu Rayyan, Dima Dweik, Sarah Pierce, Ming K Lee, Mary-Claire King, Tom Walsh, Moien Kanaan
Tooth development is controlled by the same processes that regulate formation of other ectodermal structures. Mutations in the genes underlying these processes may cause ectodermal dysplasia, including severe absence of primary or permanent teeth. Four consanguineous Palestinian families presented with oligodontia and hair and skin features of ectodermal dysplasia. Appearance of ectodermal dysplasia was consistent with autosomal recessive inheritance. Exome sequencing followed by genotyping of 56 informative relatives in the 4 families suggests that the phenotype is due to homozygosity for KREMEN1 p...
October 2016: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/26975584/focal-cortical-dysplasia-microcephaly-and-epilepsy-in-a-boy-with-1q21-1-q21-3-duplication
#13
Roberta Milone, Angelo Valetto, Roberta Battini, Veronica Bertini, Giulia Valvo, Giovanni Cioni, Federico Sicca
The recent advance of new molecular technologies like array - Comparative Genomic Hybridization has fostered the detection of genomic imbalances in subjects with intellectual disability, epilepsy, and/or congenital anomalies. Though some of the rearrangements are relatively frequent, their consequences on phenotypes can be strongly variable. We report on a boy harbouring a de novo 8.3 Mb duplication of chromosome 1q21.1-q21.3 whose complex unusual phenotype deserves attention, due to the presence of focal cortical dysplasia, microcephaly, and epilepsy...
May 2016: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/26900692/characterization-of-a-complex-chromosomal-rearrangement-involving-a-de-novo-duplication-of-9p-and-9q-and-a-deletion-of-9q
#14
Mónica D Martín-De Saro, Juan M Valdés-Miranda, Lautaro Plaza-Benhumea, Adrián Pérez-Cabrera, Luz M Gonzalez-Huerta, Roberto Guevara-Yañez, Sergio A Cuevas-Covarrubias
Rearrangements of the distal region of 9p are important chromosome imbalances in human beings. Trisomy 9p is the fourth most frequent chromosome anomaly and is a clinically recognizable syndrome. Kleefstra syndrome, previously named 9q subtelomeric deletion syndrome, is either caused by a submicroscopic deletion in 9q34.3 or an intragenic mutation of EHMT1. We report a Mexican male patient with abnormal development, dysmorphism, systemic anomalies and a complex chromosomal rearrangement (CCR). GTG-banding revealed a 46,XY,add(9)(q34...
2015: Cytogenetic and Genome Research
https://www.readbyqxmd.com/read/26900403/complex-intrachromosomal-rearrangement-in-1q-leading-to-1q32-2-microdeletion-a-potential-role-of-srgap2-in-the-gyrification-of-cerebral-cortex
#15
Martina Rincic, Milan Rados, Zeljka Krsnik, Kristina Gotovac, Fran Borovecki, Thomas Liehr, Lukrecija Brecevic
BACKGROUND: Van der Woude syndrome (MIM: 119300, VWS) is a dominantly inherited and the most common orofacial clefting syndrome; it accounts for ~2 % of all cleft lip and palate cases. Intellectual disability (ID) is characterized by significant limitations, both in intellectual functioning (cognitive deficit) and in adaptive behavior as expressed in conceptual, social and practical adaptive skills. Karyotyping has been the first standard test for the detection of genetic imbalance in patients with ID for more than 35 years...
2016: Molecular Cytogenetics
https://www.readbyqxmd.com/read/26697755/compound-heterozygous-mutations-in-nek8-in-siblings-with-end-stage-renal-disease-with-hepatic-and-cardiac-anomalies
#16
Ramakrishnan Rajagopalan, Christopher M Grochowski, Melissa A Gilbert, Alexandra M Falsey, Karlene Coleman, Rene Romero, Kathleen M Loomes, David A Piccoli, Marcella Devoto, Nancy B Spinner
We studied two brothers who presented in the newborn period with cardiac, renal, and hepatic anomalies that were initially suggestive of ALGS, although no mutations in JAG1 or NOTCH2 were identified. Exome sequencing demonstrated compound heterozygous mutations in the NEK8 gene (Never in mitosis A-related Kinase 8), a ciliary kinase indispensable for cardiac and renal development based on murine studies. The mutations included a c.2069_2070insC variant (p.Ter693LeufsTer86), and a c.1043C>T variant (p.Thr348Met) in the highly conserved RCC1 (Regulation of Chromosome Condensation 1) domain...
March 2016: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/26690521/frequency-of-congenital-malformations-and-chromosomal-disorders-in-bacau-and-vaslui-counties-romania
#17
Cristina-Elena Popa, Gogu Ghiorghiţа
This paper presents the state of genetic health of the human populations in two Romanian counties, Bacau and Vaslui, as they are different in area, number of inhabitants, level of economic and social development, etc. The data presented in this paper is from the Public Health Directions of the two counties, reflecting the situation recorded during 2006-2013. In the 8 years study, 1894 cases of congenital and chromosomal disorders were recorded in the newborns from the populations in the two counties. The identified cases were distributed based on years, categories of disorders and sexes...
December 2015: Journal of Genetics
https://www.readbyqxmd.com/read/26680650/array-based-molecular-karyotyping-in-fetal-brain-malformations-identification-of-novel-candidate-genes-and-chromosomal-regions
#18
Sophia K Krutzke, Hartmut Engels, Andrea Hofmann, Madita M Schumann, Kirsten Cremer, Alexander M Zink, Alina Hilger, Michael Ludwig, Ulrich Gembruch, Heiko Reutter, Waltraut M Merz
BACKGROUND: For the majority of congenital brain malformations, the underlying cause remains unknown. Recent studies have implicated rare copy number variations (CNVs) in their etiology. METHODS: Here, we used array-based molecular karyotyping to search for causative CNVs in 33 fetuses of terminated pregnancies with prenatally detected brain malformations and additional extracerebral anomalies. RESULTS: In 11 fetuses, we identified 15 CNVs (0...
January 2016: Birth Defects Research. Part A, Clinical and Molecular Teratology
https://www.readbyqxmd.com/read/26658127/rcan1-links-impaired-neurotrophin-trafficking-to-aberrant-development-of-the-sympathetic-nervous-system-in-down-syndrome
#19
Ami Patel, Naoya Yamashita, Maria Ascaño, Daniel Bodmer, Erica Boehm, Chantal Bodkin-Clarke, Yun Kyoung Ryu, Rejji Kuruvilla
Down syndrome is the most common chromosomal disorder affecting the nervous system in humans. To date, investigations of neural anomalies in Down syndrome have focused on the central nervous system, although dysfunction of the peripheral nervous system is a common manifestation. The molecular and cellular bases underlying peripheral abnormalities have remained undefined. Here, we report the developmental loss of sympathetic innervation in human Down syndrome organs and in a mouse model. We show that excess regulator of calcineurin 1 (RCAN1), an endogenous inhibitor of the calcineurin phosphatase that is triplicated in Down syndrome, impairs neurotrophic support of sympathetic neurons by inhibiting endocytosis of the nerve growth factor (NGF) receptor, TrkA...
December 14, 2015: Nature Communications
https://www.readbyqxmd.com/read/26615903/the-endocrine-function-of-human-placenta-an-overview
#20
REVIEW
Mariana A Costa
During pregnancy, several tightly coordinated and regulated processes take place to enable proper fetal development and gestational success. The formation and development of the placenta is one of these critical pregnancy events. This organ plays essential roles during gestation, including fetal nourishment, support and protection, gas exchange and production of several hormones and other mediators. Placental hormones are mainly secreted by the syncytiotrophoblast, in a highly and tightly regulated way. These hormones are important for pregnancy establishment and maintenance, exerting autocrine and paracrine effects that regulate decidualization, placental development, angiogenesis, endometrial receptivity, embryo implantation, immunotolerance and fetal development...
January 2016: Reproductive Biomedicine Online
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