keyword
MENU ▼
Read by QxMD icon Read
search

chromosomal anomalies in human development

keyword
https://www.readbyqxmd.com/read/29655603/new-technologies-to-uncover-the-molecular-basis-of-disorders-of-sex-development
#1
REVIEW
Hayk Barseghyan, Emmanuèle C Délot, Eric Vilain
The elegant developmental biology experiments conducted in the 1940s by French physiologist Alfred Jost demonstrated that the sexual phenotype of a mammalian embryo depended whether the embryonic gonad develops into a testis or not. In humans, anomalies in the processes that regulate development of chromosomal, gonadal or anatomic sex result in a spectrum of conditions termed Disorders/Differences of Sex Development (DSD). Each of these conditions is rare, and understanding of their genetic etiology is still incomplete...
April 12, 2018: Molecular and Cellular Endocrinology
https://www.readbyqxmd.com/read/29628935/neurodevelopmental-genetic-diseases-associated-with-microdeletions-and-microduplications-of-chromosome-17p13-3
#2
REVIEW
Sara M Blazejewski, Sarah A Bennison, Trevor H Smith, Kazuhito Toyo-Oka
Chromosome 17p13.3 is a region of genomic instability that is linked to different rare neurodevelopmental genetic diseases, depending on whether a deletion or duplication of the region has occurred. Chromosome microdeletions within 17p13.3 can result in either isolated lissencephaly sequence (ILS) or Miller-Dieker syndrome (MDS). Both conditions are associated with a smooth cerebral cortex, or lissencephaly, which leads to developmental delay, intellectual disability, and seizures. However, patients with MDS have larger deletions than patients with ILS, resulting in additional symptoms such as poor muscle tone, congenital anomalies, abnormal spasticity, and craniofacial dysmorphisms...
2018: Frontiers in Genetics
https://www.readbyqxmd.com/read/29570242/germline-but-not-somatic-de-novo-mutations-are-common-in-human-congenital-diaphragmatic-hernia
#3
Nori Matsunami, Hari Shanmugam, Lisa Baird, Jeff Stevens, Janice L Byrne, Douglas C Barnhart, Carrie Rau, Marcia L Feldkamp, Bradley A Yoder, Mark F Leppert, H Joseph Yost, Luca Brunelli
OBJECTIVES: Congenital diaphragmatic hernia (CDH) is a developmental defect of the diaphragm that causes high newborn morbidity and mortality. CDH is considered to be a multifactorial disease, with strong evidence implicating genetic factors. Although recent studies suggest the biological role of deleterious germline de novo variants, the effect of gene variants specific to the diaphragm remains unclear, and few single genes have been definitively implicated in human disease. METHODS: We performed genome sequencing on 16 individuals with CDH and their unaffected parents, including 10 diaphragmatic samples...
March 23, 2018: Birth Defects Research
https://www.readbyqxmd.com/read/29533680/copy-number-variation-in-fetal-alcohol-spectrum-disorder
#4
Mehdi Zarrei, Geoffrey G Hicks, James N Reynolds, Bhooma Thiruvahindrapuram, Worrawat Engchuan, Molly Pind, Sylvia Lamoureux, John Wei, Zhouzhi Wang, Christian R Marshall, Richard F Wintle, Albert E Chudley, Stephen W Scherer
Fetal alcohol spectrum disorder (FASD) is characterized by a combination of neurological, developmental, and congenital defects that may occur as a consequence of prenatal alcohol exposure. Earlier reports showed that large chromosomal anomalies may link to FASD. Here, we examined the prevalence and types of copy number variations (CNVs) in FASD cases previously diagnosed by a multidisciplinary FASD team in sites across Canada. We genotyped 95 children with FASD and 87 age-matched, typically developing controls on the Illumina Human Omni2...
March 13, 2018: Biochemistry and Cell Biology, Biochimie et Biologie Cellulaire
https://www.readbyqxmd.com/read/29465581/atypical-microdeletion-in-22q11-deletion-syndrome-reveals-new-candidate-causative-genes-a-case-report-and-literature-review
#5
Huiping Shi, Zhaoyue Wang
RATIONALE: 22q11 deletion syndrome, the most common chromosomal microdeletion disease, is caused by megabase-sized deletions on chromosome 22q11.2. It is characterized by a wide spectrum of congenital anomalies in velopharyngeal and facial, cardiac, genitourinary, vertebroskeletal, respiratory, digestive, and central nervous systems. Phenotype-genotype studies have revealed several causative genes that regulate the development of the third and fourth pharyngeal arches in human. However, the exact pathogenesis of this syndrome remains unknown...
February 2018: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29453407/neovasculature-can-be-induced-by-patching-an-arterial-graft-into-a-vein-a-novel-in-vivo-model-of-spontaneous-arteriovenous-fistula-formation
#6
Yukinobu Ito, Makoto Yoshida, Daichi Maeda, Masato Takahashi, Hiroshi Nanjo, Hirotake Masuda, Akiteru Goto
Arteriovenous malformations consist of tangles of arteries and veins that are often connected by a fistula. The causes and mechanisms of these clinical entities are not fully understood. We discovered that suturing an arterial patch into the common jugular vein of rabbits led to spontaneous neovascularization, the formation of an arteriovenous fistula and the development of an arteriovenous shunt. An arterial patch excised from the common carotid artery was sutured into the common jugular vein. Within a month, a dense nidus-like neovasculature formed around the patch...
February 16, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29416566/can-telomere-shortening-be-the-main-indicator-of-non-viable-fetus-elimination
#7
Nataliya Huleyuk, Iryna Tkach, Danuta Zastavna, Miroslaw Tyrka
Background: Telomeres are transcriptionally inactive genomic areas, which, if shortened, are associated with pathological processes, unsuccessful fertilization, aging, and death. Telomere dysfunction has also been linked to chromosomal rearrangements and genomic instability. The role of telomeres in postnatal life has been extensively studied and discussed both in physiological as well as in pathological processes. However, the role of telomere length in prenatal development is still poorly understood, and mainly concerns the preimplantation stage...
2018: Molecular Cytogenetics
https://www.readbyqxmd.com/read/29378665/identification-of-novel-candidate-genes-for-46-xy-disorders-of-sex-development-dsd-using-a-c57bl-6j-y-pos-mouse-model
#8
Hayk Barseghyan, Aleisha Symon, Mariam Zadikyan, Miguel Almalvez, Eva E Segura, Ascia Eskin, Matthew S Bramble, Valerie A Arboleda, Ruth Baxter, Stanley F Nelson, Emmanuèle C Délot, Vincent Harley, Eric Vilain
BACKGROUND: Disorders of sex development (DSD) have an estimated frequency of 0.5% of live births encompassing a variety of urogenital anomalies ranging from mild hypospadias to a discrepancy between sex chromosomes and external genitalia. In order to identify the underlying genetic etiology, we had performed exome sequencing in a subset of DSD cases with 46,XY karyotype and were able to identify the causative genetic variant in 35% of cases. While the genetic etiology was not ascertained in more than half of the cases, a large number of variants of unknown clinical significance (VUS) were identified in those exomes...
January 30, 2018: Biology of Sex Differences
https://www.readbyqxmd.com/read/29373757/mutations-involving-the-sry-related-gene-sox8-are-associated-with-a-spectrum-of-human-reproductive-anomalies
#9
Marie-France Portnoi, Marie-Charlotte Dumargne, Sandra Rojo, Selma F Witchel, Andrew J Duncan, Caroline Eozenou, Joelle Bignon-Topalovic, Sventlana A Yatsenko, Aleksandar Rajkovic, Miguel Reyes-Mugica, Kristian Almstrup, Lelia Fusee, Yogesh Srivastava, Sandra Chantot-Bastaraud, Capucine Hyon, Christine Louis-Sylvestre, Pierre Validire, Caroline de Malleray Pichard, Celia Ravel, Sophie Christin-Maitre, Raja Brauner, Raffaella Rossetti, Luca Persani, Eduardo H Charreau, Liliana Dain, Violeta A Chiauzzi, Inas Mazen, Hassan Rouba, Caroline Schluth-Bolard, Stuart MacGowan, W H Irwin McLean, Etienne Patin, Ewa Rajpert-De Meyts, Ralf Jauch, John C Achermann, Jean-Pierre Siffroi, Ken McElreavey, Anu Bashamboo
SOX8 is an HMG-box transcription factor closely related to SRY and SOX9. Deletion of the gene encoding Sox8 in mice causes reproductive dysfunction but the role of SOX8 in humans is unknown. Here, we show that SOX8 is expressed in the somatic cells of the early developing gonad in the human and influences human sex-determination. We identified two individuals with 46,XY disorders/differences in sex development (DSD) and chromosomal rearrangements encompassing the SOX8 locus and a third individual with 46,XY DSD and a missense mutation in the HMG-box of SOX8...
January 24, 2018: Human Molecular Genetics
https://www.readbyqxmd.com/read/29364376/-maxillary-lateral-incisor-partial-anodontia-sequence-a-clinical-entity-with-epigenetic-origin
#10
Alberto Consolaro, Maurício Almeida Cardoso, Renata Bianco Consolaro
The relationship between maxillary lateral incisor anodontia and the palatal displacement of unerupted maxillary canines cannot be considered as a multiple tooth abnormality with defined genetic etiology in order to be regarded as a "syndrome". Neither were the involved genes identified and located in the human genome, nor was it presumed on which chromosome the responsible gene would be located. The palatal maxillary canine displacement in cases of partial anodontia of the maxillary lateral incisor is potentially associated with environmental changes caused by its absence in its place of formation and eruption, which would characterize an epigenetic etiology...
November 2017: Dental Press Journal of Orthodontics
https://www.readbyqxmd.com/read/29305299/identification-of-oaf-and-pvrl1-as-candidate-genes-for-an-ocular-anomaly-characterized-by-peters-anomaly-type-2-and-ectopia-lentis
#11
Dezső David, Deepti Anand, Carlos Araújo, Brian Gloss, Joana Fino, Marcel Dinger, Päivi Lindahl, Minna Pöyhönen, Laivuori Hannele, João Lavinha
Keratolenticular dysgenesis (KLD) and ectopia lentis are congenital eye defects. The aim of this study is the identification of molecular genetic alterations responsible for those ocular anomalies with neurologic impairment in an individual with a de novo balanced chromosome translocation t(11;18)(q23.3;q11.2)dn. Disruption of OAF, the human orthologue of the Drosophila oaf, by the 11q23.3 breakpoint results in reduced expression of this transcriptional regulator. Furthermore, four most likely nonfunctional chimeric transcripts comprising up to OAF exon 3, derived from the der(11) allele, have also been identified...
March 2018: Experimental Eye Research
https://www.readbyqxmd.com/read/29219113/diagnostic-role-of-microrna-expression-profile-in-the-prenatal-amniotic-fluid-samples-of-pregnant-women-with-down-syndrome
#12
Emin Karaca, Ayça Aykut, Biray Ertürk, Burak Durmaz, Ahmet Güler, Barış Büke, Ahmet Özgür Yeniel, Ahmet Mete Ergenoğlu, Ferda Özkınay, Mehmet Özeren, Mert Kazandı, Fuat Akercan, Sermet Sağol, Cumhur Gündüz, Özgür Çoğulu
BACKGROUND: Down syndrome is the most common chromosomal anomaly in humans. Down syndrome is the most common chromosomal anomaly in humans affecting people from every race and age. Most of the cases are can be diagnosed by prenatal diagnostic methods in pregnancy. Due to the longtime of culture method applied for prenatal diagnosis, genetic analysis has been developed and developing for rapid diagnosis. For this reason, the effective use of miRNAs was investigated in the rapid analysis of prenatal samples with Down syndrome...
December 8, 2017: Balkan Medical Journal
https://www.readbyqxmd.com/read/29198724/monoallelic-bmp2-variants-predicted-to-result-in-haploinsufficiency-cause-craniofacial-skeletal-and-cardiac-features-overlapping-those-of-20p12-deletions
#13
Tiong Yang Tan, Claudia Gonzaga-Jauregui, Elizabeth J Bhoj, Kevin A Strauss, Karlla Brigatti, Erik Puffenberger, Dong Li, LiQin Xie, Nanditha Das, Ioanna Skubas, Ron A Deckelbaum, Virginia Hughes, Susannah Brydges, Sarah Hatsell, Chia-Jen Siao, Melissa G Dominguez, Aris Economides, John D Overton, Valerie Mayne, Peter J Simm, Bryn O Jones, Stefanie Eggers, Gwenaël Le Guyader, Fanny Pelluard, Tobias B Haack, Marc Sturm, Angelika Riess, Stephan Waldmueller, Michael Hofbeck, Katharina Steindl, Pascal Joset, Anita Rauch, Hakon Hakonarson, Naomi L Baker, Peter G Farlie
Bone morphogenetic protein 2 (BMP2) in chromosomal region 20p12 belongs to a gene superfamily encoding TGF-β-signaling proteins involved in bone and cartilage biology. Monoallelic deletions of 20p12 are variably associated with cleft palate, short stature, and developmental delay. Here, we report a cranioskeletal phenotype due to monoallelic truncating and frameshift BMP2 variants and deletions in 12 individuals from eight unrelated families that share features of short stature, a recognizable craniofacial gestalt, skeletal anomalies, and congenital heart disease...
December 7, 2017: American Journal of Human Genetics
https://www.readbyqxmd.com/read/29061165/sustained-endocrine-profiles-of-a-girl-with-wagr-syndrome
#14
Yui Takada, Yasunari Sakai, Yuki Matsushita, Kazuhiro Ohkubo, Yuhki Koga, Satoshi Akamine, Michiko Torio, Yoshito Ishizaki, Masafumi Sanefuji, Hiroyuki Torisu, Chad A Shaw, Masayo Kagami, Toshiro Hara, Shouichi Ohga
BACKGROUND: Wilms tumor, aniridia, genitourinary anomalies and mental retardation (WAGR) syndrome is a rare genetic disorder caused by heterozygous deletions of WT1 and PAX6 at chromosome 11p13. Deletion of BDNF is known eto be associated with hyperphagia and obesity in both humans and animal models; however, neuroendocrine and epigenetic profiles of individuals with WAGR syndrome remain to be determined. CASE PRESENTATION: We report a 5-year-old girl with the typical phenotype of WAGR syndrome...
October 23, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/29040498/genome-stability-of-bovine-in-vivo-conceived-cleavage-stage-embryos-is-higher-compared-to-in-vitro-produced-embryos
#15
Olga Tšuiko, Maaike Catteeuw, Masoud Zamani Esteki, Aspasia Destouni, Osvaldo Bogado Pascottini, Urban Besenfelder, Vitezslav Havlicek, Katrien Smits, Ants Kurg, Andres Salumets, Thomas D'Hooghe, Thierry Voet, Ann Van Soom, Joris Robert Vermeesch
STUDY QUESTION: Is the rate and nature of chromosome instability (CIN) similar between bovine in vivo-derived and in vitro-cultured cleavage-stage embryos? SUMMARY ANSWER: There is a major difference regarding chromosome stability of in vivo-derived and in vitro-cultured embryos, as CIN is significantly lower in in vivo-derived cleavage-stage embryos compared to in vitro-cultured embryos. WHAT IS KNOWN ALREADY: CIN is common during in vitro embryogenesis and is associated with early embryonic loss in humans, but the stability of in vivo-conceived cleavage-stage embryos remains largely unknown...
November 1, 2017: Human Reproduction
https://www.readbyqxmd.com/read/29034883/establishment-of-a-congenital-tooth-agenesis-related-gene-msx1-knockout-human-embryonic-stem-cell-lines-by-crispr-cas9-technology
#16
Yanting Xue, Minghui Zhu, Dajiang Qin, Yongjin Li, Xiaotong Cen, Xiaofang Sun, Wenwei Lian, Baojian Liao
Human MSX1 gene is mapped to chromosome 4 and encodes a 303aa homeobox protein MSX1. MSX1 expression appears during early tooth development of vertebrate embryogenesis. Mutations in this protein are related to human tooth anomalie, cleft lip and palate and congenital ectodermal dysplasia syndrome. Most of the confirmed pathogenic mutations are located in exon2 encoded homeobox domain. Here, we report the establishment of MSX1 gene knockout human embryonic stem (hES) cell lines by CRISPR-Cas9 technology. These cell lines provide good materials for further studies of the roles MSX1 plays in human tooth development and congenital tooth agenesis...
October 2017: Stem Cell Research
https://www.readbyqxmd.com/read/28969278/expressional-analysis-of-msx1-human-revealed-its-role-in-sagittal-jaw-relationship
#17
Prateek Gupta, Thakur Prasad Chaturvedi, Vipul Sharma
INTRODUCTION: Abnormal skeletal jaw relationships is an important factor causing difficulty in speech, mastication, sleep and social interaction, thus affect the overall well being of an individual. AIM: The present study was an attempt to decipher the role of human MSX1 in terms of sagittal jaw relationship by employing Polymerase Chain Reaction (PCR) based analysis. MATERIALS AND METHODS: Ninety-eight case subjects belonging to North India with skeletal Class II and Class III jaw relationships were selected...
August 2017: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/28932296/genetic-diagnosis-of-chromosomal-congenital-anomalies-in-albanian-pediatric-patients-by-array-cgh
#18
Anila Babameto-Laku, Dorina Roko, Gentian Vyshka
AIM: The aim of our study was to identify chromosomal imbalances by whole-genome microarray-based comparative genomic hybridization (array CGH) in DNA samples of children in which karyotype results cannot be obtained. The present paper describes the first Albanian experience of an array CGH application. MATERIAL AND METHODS: The cohort included seven children with developmental delay or intellectual disability, facial dysmorphism and congenital anomalies according to clinical criteria, suggestive of chromosomal anomalies...
August 15, 2017: Open Access Macedonian Journal of Medical Sciences
https://www.readbyqxmd.com/read/28781809/a-novel-protein-expression-signature-differentiates-benign-lipomas-from-well-differentiated-liposarcomas
#19
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
#20
REVIEW
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
keyword
keyword
56451
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"