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https://www.readbyqxmd.com/read/28454424/association-between-polymorphisms-in-tp53-and-mdm2-genes-and-susceptibility-to-prostate-cancer
#1
Mohammad Hashemi, Shadi Amininia, Mahboubeh Ebrahimi, Nasser Simforoosh, Abbas Basiri, Seyed Amir Mohsen Ziaee, Behzad Narouie, Mehdi Sotoudeh, Mohammad Javad Mollakouchekian, Esmaeil Rezghi Maleki, Hamideh Hanafi-Bojd, Maryam Rezaei, Gholamreza Bahari, Mohsen Taheri, Saeid Ghavami
Tumor protein 53 (TP53), a tumor suppressor gene, is a vital cellular cancer suppressor in multicellular organisms. Murine double minute-2 (MDM2) is an oncoprotein that inhibits TP53 activity. A number of studies have examined the association of TP53 and MDM2 polymorphisms with the risk of common forms of cancer, but the findings remain inconclusive. The present study aimed to evaluate the impact of the 40-bp insertion/deletion (I/D) polymorphism (rs3730485) in the MDM2 promoter region and the 16-bp I/D polymorphism (rs17878362) in TP53 on the susceptibility of prostate cancer (PCa) in a sample of the Iranian population...
April 2017: Oncology Letters
https://www.readbyqxmd.com/read/28454199/-genetic-diagnostics-for-cardiomyopathies
#2
Frauke Czepluch, Bernd Wollnik, Gerd Hasenfuß
Cardiomyopathies often have a genetic etiology. New genetic diagnostic strategies based on next generation sequencing (NGS)-approaches will continuously increase our knowledge about the genetic basis of cardiomyopathies within the following years. Diagnostics and therapy of rare, genetically-induced cardiac diseases increasingly require special cardiac and genetic knowledge. Interestingly, mutations in the same gene or even identical gene mutations can be associated with different cardiomyopathy phenotypes and can exhibit incomplete penetrance or variable expressivity...
May 2017: Deutsche Medizinische Wochenschrift
https://www.readbyqxmd.com/read/28454108/telomere-erosion-in-nf1-tumorigenesis
#3
Rhiannon E Jones, Julia W Grimstead, Ashni Sedani, Duncan Baird, Meena Upadhyaya
Neurofibromatosis type 1 (NF1; MIM# 162200) is a familial cancer syndrome that affects 1 in 3,500 individuals worldwide and is inherited in an autosomal dominant fashion. Malignant Peripheral Nerve Sheath Tumors (MPNSTs) represent a significant cause of morbidity and mortality in NF1 and currently there is no treatment or definite prognostic biomarkers for these tumors. Telomere shortening has been documented in numerous tumor types. Short dysfunctional telomeres are capable of fusion and it is considered that the ensuing genomic instability may facilitate clonal evolution and the progression to malignancy...
April 9, 2017: Oncotarget
https://www.readbyqxmd.com/read/28454012/spatial-clustering-of-childhood-leukaemia-with-the-integration-of-the-paediatric-environmental-history
#4
Alberto Cárceles-Álvarez, Juan A Ortega-García, Fernando A López-Hernández, Mayra Orozco-Llamas, Blanca Espinosa-López, Esther Tobarra-Sánchez, Lizbeth Alvarez
BACKGROUND: Leukaemia remains the most common type of paediatric cancer and its aetiology remains unknown, but considered to be multifactorial. It is suggested that the initiation in utero by relevant exposures and/or inherited genetic variants and, other promotional postnatal exposures are probably required to develop leukaemia. This study aimed to map the incidence and analyse possible clusters in the geographical distribution of childhood acute leukaemia during the critical periods and to evaluate the factors that may be involved in the aetiology by conducting community and individual risk assessments...
April 25, 2017: Environmental Research
https://www.readbyqxmd.com/read/28453858/digenic-inheritance-of-prokr2-and-wdr11-mutations-in-pituitary-stalk-interruption-syndrome
#5
Shana E McCormack, Dong Li, Yeon Joo Kim, Ji Young Lee, Soo-Hyun Kim, Robert Rapaport, Michael A Levine
Context: Pituitary stalk interruption syndrome (PSIS, ORPHA95496) is a congenital defect of the pituitary gland characterized by the triad of a very thin/interrupted pituitary stalk, an ectopic (or absent) posterior pituitary gland, and hypoplasia or aplasia of the anterior pituitary gland. Complex genetic patterns of inheritance of this disorder are increasingly recognized. Objective: The objective of this study was to identify a genetic etiology of PSIS in an affected child...
April 27, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28453643/early-onset-obesity-unrecognized-first-evidence-for-gnas-mutations-and-methylation-changes
#6
Annette Grüters-Kieslich, Monica Reyes, Amita Sharma, Cem Demirci, Terry J DeClue, Erwin Lankes, Dov Tiosano, Dirk Schnabel, Harald Jüppner
Context: Early-onset obesity, characteristic for disorders affecting the leptin-melanocortin pathway, is also observed in pseudohypoparathyroidism type Ia (PHP1A), a disorder caused by maternal GNAS mutations that disrupt expression or function of the stimulatory G protein (Gsα). Mutations and/or epigenetic abnormalities at the same genetic locus are also the cause of pseudohypoparathyroidism type Ib (PHP1B). However, although equivalent biochemical and radiographic findings can be encountered in these related disorders caused by GNAS abnormalities they are considered distinct clinical entities...
April 27, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28453600/whole-exome-sequencing-in-eight-thai-patients-with-leber-congenital-amaurosis-reveals-mutations-in-the-ctnna1-and-cyp4v2-genes
#7
Worapoj Jinda, Todd D Taylor, Yutaka Suzuki, Wanna Thongnoppakhun, Chanin Limwongse, Patcharee Lertrit, Adisak Trinavarat, La-Ongsri Atchaneeyasakul
Purpose: Our goal was to describe the clinical and molecular genetic findings in Thai patients with Leber congenital amaurosis (LCA). Methods: Whole exome sequencing (WES) was performed in eight unrelated patients. All genes responsible for inherited retinal diseases (IRDs) based on RetNet were selected for analysis. Potentially causative variants were filtered through a bioinformatics pipeline and validated using Sanger sequencing. Segregation analysis of the causative genes was performed in family members when available...
April 1, 2017: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/28453362/a-novel-mutation-in-the-dominantly-inherited-topors-gene-supports-haploinsufficiency-as-the-mechanism-of-retinitis-pigmentosa
#8
Marta Latasiewicz, Anna Paola Salvetti, Robert E MacLaren
BACKGROUND: Inherited retinal degenerations are a major cause of untreatable blindness in the younger age group. Recent advances in gene therapy using adeno-associated viral (AAV) vectors have raised the possibility of slowing or stopping retinal degenerations with gene replacement in cases of gene deficiency. MATERIALS AND METHODS: In this report, we present a family with autosomal dominant retinitis pigmentosa. A screen for common ADRP genes was performed with 105 genes targeted...
April 28, 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/28449395/breast-milk-iga-to-foods-has-different-epitope-specificity-than-serum-iga-evidence-for-entero-mammary-link-for-food-specific-iga
#9
Antti E Seppo, Emma M Savilahti, M Cecilia Berin, Hugh A Sampson, Kirsi M Järvinen
BACKGROUND: We have previously shown that maternal cow's milk (CM) elimination results in down-regulation of CM-specific IgA antibody levels in BM, but not in serum, suggesting that an entero-mammary link may exist for food-specific antibody-secreting cells. OBJECTIVE: We sought to investigate whether food-specific IgA epitope profiles differ intra-individually between mother's serum and BM. We also examined how infants' food epitope-specific IgA develops in early infancy and the relationship of IgA epitope recognition with development of cow's milk allergy (CMA)...
April 27, 2017: Clinical and Experimental Allergy: Journal of the British Society for Allergy and Clinical Immunology
https://www.readbyqxmd.com/read/28449333/inheritance-and-the-sunshine-vitamin
#10
G Roberts
No abstract text is available yet for this article.
May 2017: Clinical and Experimental Allergy: Journal of the British Society for Allergy and Clinical Immunology
https://www.readbyqxmd.com/read/28449304/a-case-of-familial-transmission-of-the-newly-described-dnmt3a-overgrowth-syndrome
#11
Gabrielle Lemire, Julie Gauthier, Jean-François Soucy, Marie-Ange Delrue
DNMT3A-Overgrowth Syndrome (also known as Tatton-Brown-Rahman Syndrome) (MIM 615879) has recently been described in 13 individuals with de novo heterozygous mutations in DNMT3A gene. This autosomal dominant condition is characterized by overgrowth, dysmorphic facial features and moderate intellectual disability. Missense and truncating point mutations, a small in-frame deletion, as well as microdeletion 2p23 have been reported. Moreover, DNMT3A is commonly somatically mutated in acute myeloid leukemia. We herein report a family with two siblings and their father affected by the syndrome...
April 27, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28448548/altered-striatal-endocannabinoid-signaling-in-a-transgenic-mouse-model-of-spinocerebellar-ataxia-type-3
#12
Carmen Rodríguez-Cueto, Mariluz Hernández-Gálvez, Cecilia J Hillard, Patricia Maciel, Sara Valdeolivas, José A Ramos, María Gómez-Ruiz, Javier Fernández-Ruiz
Spinocerebellar ataxia type-3 (SCA-3) is the most prevalent autosomal dominant inherited ataxia. We recently found that the endocannabinoid system is altered in the post-mortem cerebellum of SCA-3 patients, and similar results were also found in the cerebellar and brainstem nuclei of a SCA-3 transgenic mouse model. Given that the neuropathology of SCA-3 is not restricted to these two brain regions but rather, it is also evident in other structures (e.g., the basal ganglia), we studied the possible changes to endocannabinoid signaling in the striatum of these transgenic mice...
2017: PloS One
https://www.readbyqxmd.com/read/28448516/natural-variation-of-pirna-expression-affects-immunity-to-transposable-elements
#13
Sergei Ryazansky, Elizaveta Radion, Anastasia Mironova, Natalia Akulenko, Yuri Abramov, Valeriya Morgunova, Maria Y Kordyukova, Ivan Olovnikov, Alla Kalmykova
In the Drosophila germline, transposable elements (TEs) are silenced by PIWI-interacting RNA (piRNA) that originate from distinct genomic regions termed piRNA clusters and are processed by PIWI-subfamily Argonaute proteins. Here, we explore the variation in the ability to restrain an alien TE in different Drosophila strains. The I-element is a retrotransposon involved in the phenomenon of I-R hybrid dysgenesis in Drosophila melanogaster. Genomes of R strains do not contain active I-elements, but harbour remnants of ancestral I-related elements...
April 2017: PLoS Genetics
https://www.readbyqxmd.com/read/28448277/long-term-consequences-of-obesity-on-female-fertility-and-the-health-of-the-offspring
#14
Suchitra Chandrasekaran, Genevieve Neal-Perry
PURPOSE OF REVIEW: Obesity has reached near epidemic levels among reproductive age women with a myriad of consequences. Obesity adversely affects the maternal milieu by creating conditions that decrease fertility and increase the risk of gestational diabetes, hypertensive disease in pregnancy, fetal growth abnormalities and congenital anomalies. The effects of obesity are not limited to pregnancy. Indeed, beyond the immediate postpartum period, obese women maintain a higher prevalence of insulin resistance and cardiovascular disease...
April 26, 2017: Current Opinion in Obstetrics & Gynecology
https://www.readbyqxmd.com/read/28448044/generation-of-ipsc-derived-human-brain-organoids-to-model-early-neurodevelopmental-disorders
#15
Elke Gabriel, Jay Gopalakrishnan
The restricted availability of suitable in vitro models that can reliably represent complex human brain development is a significant bottleneck that limits the translation of basic brain research into clinical application. While induced pluripotent stem cells (iPSCs) have replaced the ethically questionable human embryonic stem cells, iPSC-based neuronal differentiation studies remain descriptive at the cellular level but fail to adequately provide the details that could be derived from a complex, 3D human brain tissue...
April 14, 2017: Journal of Visualized Experiments: JoVE
https://www.readbyqxmd.com/read/28447591/non-crystallographic-symmetry-of-liquid-metal-flat-crystallographic-faults-and-polymorph-transformation-of-the-m7c3-carbide
#16
Alexander L Talis, Valentin S Kraposhin, Sergey Yu Kondrat'ev, Vladimir I Nikolaichik, Ekaterina V Svyatysheva, Ayal A Everstov
The fine lamellar fault structure of primary M7C3 carbide particles in the heat-resistant Fe-Cr-Ni-C alloy of the HP series (0.45C-25Cr-35Ni) in the cast condition has been revealed using transmission electron microscopy. The lamellar fault structure is regarded as an inheritance of the initial melt structure. A one-to-one correspondence between the crystal structures of M7C3, M5C2, M3C and M23C6 carbides and constructions of the projective 103 Desargues configuration and its subconfigurations is shown. Mutual mapping between 103 Desargues subconfigurations determines transformations of the ten-vertex equal-edged triangulated clusters appearing as building units of these carbides...
May 1, 2017: Acta Crystallographica. Section A, Foundations and Advances
https://www.readbyqxmd.com/read/28447420/red-cell-membrane-disorders
#17
REVIEW
J Narla, N Mohandas
Significant advances have been made in our understanding of the structural basis for altered cell function in various inherited red cell membrane disorders with reduced red cell survival and resulting hemolytic anemia. The current review summarizes these advances as they relate to defining the molecular and structural basis for disorders involving altered membrane structural organization (hereditary spherocytosis [HS] and hereditary elliptocytosis [HE]) and altered membrane transport function (hereditary overhydrated stomatocytosis and hereditary xerocytosis)...
May 2017: International Journal of Laboratory Hematology
https://www.readbyqxmd.com/read/28447407/wiedemann-rautenstrauch-syndrome-a-phenotype-analysis
#18
Stefano Paolacci, Debora Bertola, José Franco, Shehla Mohammed, Marco Tartaglia, Bernd Wollnik, Raoul C Hennekam
Wiedemann-Rautenstrauch syndrome (WRS) is a neonatal progeroid disorder characterized by growth retardation, lipodystrophy, a distinctive face, and dental anomalies. Patients reported to date demonstrate a remarkable variability in phenotype, which hampers diagnostics. We performed a literature search, and analyzed 51 reported patients, using the originally reported patients as "gold standard." In 15 patients sufficient information and photographic evidence was available to confirm the clinical diagnosis. In 12 patients the diagnosis was suggestive but lack of data prevented a definite diagnosis, and in 24 patients an alternative diagnosis was likely...
April 26, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28447403/management-of-inherited-bleeding-disorders-in-pregnancy-green-top-guideline-no-71-joint-with-ukhcdo
#19
(no author information available yet)
No abstract text is available yet for this article.
April 27, 2017: BJOG: An International Journal of Obstetrics and Gynaecology
https://www.readbyqxmd.com/read/28447322/successful-hepatectomy-for-hepatic-abscess-with-chronic-granulomatous-disease-a-case-report
#20
Ryo Muranushi, Makoto Suzuki, Kenichiro Araki, Norio Kubo, Sayaka Otake, Yutaka Nishida, Takashi Ishige, Hirokazu Arakawa, Hiroyuki Kuwano, Ken Shirabe
BACKGROUND: Chronic granulomatous disease (CGD), a rare inherited disorder, is characterized by impaired ability of phagocytic cells to kill certain bacteria and fungi. Although liver abscess is a common manifestation of CGD, its optimal management in these patients is unknown. Here, we present a case of successful hepatectomy for hepatic abscess in a patient with CGD. CASE PRESENTATION: An adolescent patient with previously diagnosed CGD presented to the pediatrics department of our institution with fever...
December 2017: Surgical Case Reports
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