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https://www.readbyqxmd.com/read/28743110/clinical-endocrine-and-molecular-genetic-analysis-of-a-large-cohort-of-saudi-arabian-patients-with-laron-syndrome
#1
Abdullah A Al-Ashwal, Afaf Al-Sagheir, Khushnooda Ramzan, Mohammed Al-Owain, Rabab Allam, Alya Qari, Nouf S Al-Numair, Faiqa Imtiaz
BACKGROUND/AIMS: Laron syndrome (LS) is an autosomal recessive disease characterized by marked short stature and very low serum IGF-1 and IGFBP-3 levels. This study assessed the clinical and endocrine features alongside determining the growth hormone receptor gene (GHR) mutation in Saudi Arabian patients with LS in order to establish whether or not a genotype/phenotype correlation is evident in this large cohort. SUBJECTS AND METHODS: A total of 40 Saudi Arabian patients with a suspected diagnosis of LS were recruited and subjected to a full clinical and endocrine investigation together with direct sequencing of the coding regions of the GHR gene...
July 25, 2017: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/28742585/genetics-of-endometriosis
#2
Kavitha Krishnamoorthy, Alan H Decherney
Endometriosis is a complex, puzzling disease in women of reproductive age. The exact cause of the disease is unknown; however, different genetic and environmental factors contribute to the evolution of the disorder. Further investigation has led to the discovery of inheritance as a complex genetic trait. Candidate genes were identified to isolate regions of genes that affect disease risk. Additional linkage studies have been performed to map specific genes along the entire genome. Recent advances to determine the genetic component of endometriosis include genome-wide association studies...
September 2017: Clinical Obstetrics and Gynecology
https://www.readbyqxmd.com/read/28742282/med-resulting-from-recessively-inherited-mutations-in-the-gene-encoding-calcium-activated-nucleotidase-cant1
#3
Karthika Balasubramanian, Bing Li, Deborah Krakow, Lisette Nevarez, Patric J Ho, Julia A Ainsworth, Deborah A Nickerson, Michael J Bamshad, LaDonna Immken, Ralph S Lachman, Daniel H Cohn
Multiple Epiphyseal Dysplasia (MED) is a relatively mild skeletal dysplasia characterized by mild short stature, joint pain, and early-onset osteoarthropathy. Dominantly inherited mutations in COMP, MATN3, COL9A1, COL9A2, and COL9A3, and recessively inherited mutations in SLC26A2, account for the molecular basis of disease in about 80-85% of the cases. In two families with recurrent MED of an unknown molecular basis, we used exome sequencing and candidate gene analysis to identify homozygosity for recessively inherited missense mutations in CANT1, which encodes calcium-activated nucleotidase 1...
July 25, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28741461/the-enzymatic-degradation-of-heparan-sulfate
#4
Laura Griffin, Tracey Gloster
Glycosaminoglycans (GAGs) such as heparan sulfate (HS) interact with a number of factors in the extracellular matrix (ECM) and as a consequence play a key role in the metabolic processes occurring within the cell. The dynamic synthesis and degradation of HS (and all GAGs) are necessary for ensuring that optimal chains are present for these functions. The degradation of HS begins at the cell surface and finishes in the lysosome, after which components can be recycled. Deficiencies or mutations in the lysosomal enzymes that process GAGs result in rare Mucopolysaccharidoses disorders (MPSs)...
July 24, 2017: Protein and Peptide Letters
https://www.readbyqxmd.com/read/28740725/huntington-s-disease-calcium-dyshomeostasis-and-pathology-models
#5
Y A Kolobkova, V A Vigont, A V Shalygin, E V Kaznacheyeva
Huntington's disease (HD) is a severe inherited neurodegenerative disorder characterized by motor dysfunction, cognitive decline, and mental impairment. At the molecular level, HD is caused by a mutation in the first exon of the gene encoding the huntingtin protein. The mutation results in an expanded polyglutamine tract at the N-terminus of the huntingtin protein, causing the neurodegenerative pathology. Calcium dyshomeostasis is believed to be one of the main causes of the disease, which underlies the great interest in the problem among experts in molecular physiology...
April 2017: Acta Naturae
https://www.readbyqxmd.com/read/28740527/molecular-genetics-in-primary-hyperparathyroidism-the-role-of-genetic-tests-in-differential-diagnosis-disease-prevention-strategy-and-therapeutic-planning-a-2017-update
#6
REVIEW
Francesca Marini, Luisella Cianferotti, Francesca Giusti, Maria Luisa Brandi
Primary hyperparathyroidism (PHPT) is one of the most frequent endocrine disease in developed countries. It mainly occurs as sporadic cases (about 90-95% of cases), while only the remaining 5-10% is represented by familial inherited parathyroid disorders due to causative mutations in specific target genes. Clinical variability among the different familial parathyroid syndromes is generally linked to the specific mutated gene and it can predispose subjects to different manifestations of parathyroid pathology, various degrees of PHPT severity, persistence and/or after-surgery recurrences...
January 2017: Clinical Cases in Mineral and Bone Metabolism
https://www.readbyqxmd.com/read/28739660/a-gene-implicated-in-activation-of-retinoic-acid-receptor-targets-is-a-novel-renal-agenesis-gene-in-humans
#7
Patrick D Brophy, Maria Rasmussen, Mrutyunjaya Parida, Greg Bonde, Benjamin W Darbro, Xiaojing Hong, Jason C Clarke, Kevin A Peterson, James Denegre, Michael Schneider, Caroline R Sussman, Lone Sunde, Dorte L Lildballe, Jens Michael Hertz, Robert A Cornell, Stephen A Murray, John R Manak
Renal agenesis (RA) is one of the more extreme examples of congenital anomalies of the kidney and urinary tract (CAKUT). Bilateral renal agenesis is almost invariably fatal at birth, and unilateral renal agenesis can lead to future health issues including end stage renal disease. Genetic investigations have identified several gene variants which cause RA, including EYA1, LHX1, and WT1 However, whereas compound null mutations of genes encoding α and γ retinoic acid receptors (RARs) cause RA in mice, to date there have been no reports of variants in RAR genes causing RA in humans...
July 24, 2017: Genetics
https://www.readbyqxmd.com/read/28739378/succinate-dehydrogenase-sdh-deficiency-carney-triad-and-the-epigenome
#8
REVIEW
Nikolaos Settas, Fabio R Faucz, Constantine A Stratakis
In this report, we review the relationship between succinate dehydrogenase (SDH) deficiency and the epigenome, especially with regards to two clinical conditions. Carney triad (CT) is a very rare disease with synchronous or metachronous occurrence of at least three different tumor entities; gastric gastrointestinal stromal tumor (GIST), paraganglioma (PGL), and pulmonary chondroma. This condition affects mostly females and it is never inherited. Another disease that shares two of the tumor components of CT, namely GIST and PGL is the Carney-Stratakis syndrome (CSS) or dyad...
July 21, 2017: Molecular and Cellular Endocrinology
https://www.readbyqxmd.com/read/28738860/germline-emsy-sequence-alterations-in-hereditary-breast-cancer-and-ovarian-cancer-families
#9
Kirsi M Määttä, Riikka Nurminen, Minna Kankuri-Tammilehto, Anne Kallioniemi, Satu-Leena Laasanen, Johanna Schleutker
BACKGROUND: BRCA1 and BRCA2 mutations explain approximately one-fifth of the inherited susceptibility in high-risk Finnish hereditary breast and ovarian cancer (HBOC) families. EMSY is located in the breast cancer-associated chromosomal region 11q13. The EMSY gene encodes a BRCA2-interacting protein that has been implicated in DNA damage repair and genomic instability. We analysed the role of germline EMSY variation in breast/ovarian cancer predisposition. The present study describes the first EMSY screening in patients with high familial risk for this disease...
July 24, 2017: BMC Cancer
https://www.readbyqxmd.com/read/28738187/presymptomatic-atrophy-in-autosomal-dominant-alzheimer-s-disease-a%C3%A2-serial-mri-study
#10
Kirsi M Kinnunen, David M Cash, Teresa Poole, Chris Frost, Tammie L S Benzinger, R Laila Ahsan, Kelvin K Leung, M Jorge Cardoso, Marc Modat, Ian B Malone, John C Morris, Randall J Bateman, Daniel S Marcus, Alison Goate, Stephen Salloway, Stephen Correia, Reisa A Sperling, Jasmeer P Chhatwal, Richard Mayeux, Adam M Brickman, Ralph N Martins, Martin R Farlow, Bernardino Ghetti, Andrew J Saykin, Clifford R Jack, Peter R Schofield, Eric McDade, Michael W Weiner, John M Ringman, Paul M Thompson, Colin L Masters, Christopher C Rowe, Martin N Rossor, Sebastien Ourselin, Nick C Fox
INTRODUCTION: Identifying at what point atrophy rates first change in Alzheimer's disease is important for informing design of presymptomatic trials. METHODS: Serial T1-weighed magnetic resonance imaging scans of 94 participants (28 noncarriers, 66 carriers) from the Dominantly Inherited Alzheimer Network were used to measure brain, ventricular, and hippocampal atrophy rates. For each structure, nonlinear mixed-effects models estimated the change-points when atrophy rates deviate from normal and the rates of change before and after this point...
July 21, 2017: Alzheimer's & Dementia: the Journal of the Alzheimer's Association
https://www.readbyqxmd.com/read/28738062/analysis-of-novel-runx2-mutations-in-chinese-patients-with-cleidocranial-dysplasia
#11
Xianli Zhang, Yang Liu, Xiaozhe Wang, Xiangyu Sun, Chenying Zhang, Shuguo Zheng
Cleidocranial dysplasia (CCD) is an autosomal dominant inheritable skeletal disorder characterized by cranial dysplasia, clavicle hypoplasia and dental abnormalities. This disease is mainly caused by heterozygous mutations in RUNX2, a gene that encodes an osteoblast-specific transcription factor. In the present study, mutational analyses of RUNX2 gene were performed on four unrelated Chinese patients with CCD. Four different RUNX2 mutations were detected in these patients, including one nonsense mutation (c...
2017: PloS One
https://www.readbyqxmd.com/read/28737457/-importance-of-gross-deletions-in-the-diagnosis-of-tuberous-sclerosis-complex-the-first-hungarian-cases
#12
Erzsébet Kövesdi, Judit Bene, Nikoletta Nagy, Ágnes Horváth, Béla Melegh, Kinga Hadzsiev
Tuberous sclerosis complex is a rare disease with high phenotypic heterogeneity, characterized by the appearance of multiplex hamartomas in the different organs. The disease is inherited by autosomal dominant manner, due to the mutations of two genes: the TSC1 or the TSC2. In this publication we present the cases of two young male and two middle-aged female patients, where pathogenetic differences of TSC1/TSC2 could not be verified by Sanger sequencing. However, multiplex ligation-dependent probe amplification confirmed different sizes of deletions in different regions of the TSC2 gene...
July 2017: Orvosi Hetilap
https://www.readbyqxmd.com/read/28736829/clonal-analysis-of-regulatory-t-cell-defect-in-patients-with-autoimmune-polyendocrine-syndrome-type-1-suggests-intrathymic-impairment
#13
Tuisku-Tuulia Koivula, Sini M Laakso, Heikki J Niemi, Eliisa Kekäläinen, Pia Laine, Lars Paulin, Petri Auvinen, T Petteri Arstila
Mutations in the Autoimmune Regulator (AIRE) gene disrupt thymic T cell development and negative selection, leading to the recessively inherited polyendocrine autoimmune disease APS-1 (autoimmune polyendocrine syndrome type 1). The patients also have a functional defect in the FOXP3(+) regulatory T cell population, but its origin is unclear. Here we have used T cell receptor sequencing to analyze the clonal relationship of major CD4(+) T cell subsets in 3 patients and 3 healthy controls. The naive regulatory T cells showed little overlap with helper T cell subsets, supporting divergence in the thymus...
July 22, 2017: Scandinavian Journal of Immunology
https://www.readbyqxmd.com/read/28736735/arginine-and-citrulline-for-the-treatment-of-melas-syndrome
#14
Ayman W El-Hattab, Mohammed Almannai, Fernando Scaglia
MELAS (mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes) syndrome is a maternally inherited mitochondrial disease with a broad spectrum of manifestations. In addition to impaired energy production, nitric oxide (NO) deficiency occurs in MELAS syndrome and leads to impaired blood perfusion in microvasculature that can contribute to several complications including stroke-like episodes, myopathy, and lactic acidosis. The supplementation of NO precursors, L-arginine and L-citrulline, increases NO production and hence can potentially have therapeutic utility in MELAS syndrome...
January 2017: Journal of Inborn Errors of Metabolism and Screening
https://www.readbyqxmd.com/read/28735012/fgwas-functional-genome-wide-association-analysis
#15
Chao Huang, Paul Thompson, Yalin Wang, Yang Yu, Jingwen Zhang, Dehan Kong, Rivka R Colen, Rebecca C Knickmeyer, Hongtu Zhu
Functional phenotypes (e.g., subcortical surface representation), which commonly arise in imaging genetic studies, have been used to detect putative genes for complexly inherited neuropsychiatric and neurodegenerative disorders. However, existing statistical methods largely ignore the functional features (e.g., functional smoothness and correlation). The aim of this paper is to develop a functional genome-wide association analysis (FGWAS) framework to efficiently carry out whole-genome analyses of functional phenotypes...
July 19, 2017: NeuroImage
https://www.readbyqxmd.com/read/28734179/computational-analysis-for-the-determination-of-deleterious-nssnps-in-human-mthfd1-gene
#16
Mansi Desai, J B Chauhan
Single nucleotide polymorphisms (SNPs) are the most common genetic polymorphisms and play a major role in many inherited diseases. Methylenetetrahydrofolate dehydrogenase 1 (MTHFD1) is one of the enzymes involved in folate metabolism. In the present study, the functional and structural consequences of nsSNPs of human MTHFD1 gene was analyzed using various computational tools like SIFT, PolyPhen2, PANTHER, PROVEAN, SNAP2, nsSNPAnalyzer, PhD-SNP, SNPs&GO, I-Mutant, MuPro, ConSurf, InterPro, NCBI Conserved Domain Search tool, ModPred, SPARKS-X, RAMPAGE, FT Site and PyMol...
July 11, 2017: Computational Biology and Chemistry
https://www.readbyqxmd.com/read/28733970/new-genes-causing-hereditary-parkinson-s-disease-or-parkinsonism
#17
REVIEW
Andreas Puschmann
PURPOSE OF REVIEW: This article reviews was to review genes where putative or confirmed pathogenic mutations causing Parkinson's disease or Parkinsonism have been identified since 2012, and summarizes the clinical and pathological picture of the associated disease subtypes. RECENT FINDINGS: Newly reported genes for dominant Parkinson's disease are DNAJC13, CHCHD2, and TMEM230. However, the evidence for a disease-causing role is not conclusive, and further genetic and functional studies are warranted...
September 2017: Current Neurology and Neuroscience Reports
https://www.readbyqxmd.com/read/28733362/loss-of-cln5-causes-altered-neurogenesis-in-a-childhood-neurodegenerative-disorder
#18
E Savchenko, Y Singh, H Konttinen, K Lejavova, L Mediavilla Santos, A Grubman, V Kärkkäinen, V Keksa-Goldsteine, N Naumenko, P Tavi, A R White, T M Malm, J Koistinaho, K M Kanninen
Neural stem/progenitor cells (NPCs) generate new neurons in the brain throughout the lifetime in an intricate process called neurogenesis. Neurogenic alterations are a common feature of several adult-onset neurodegenerative diseases. The neuronal ceroid lipofuscinoses (NCLs) are the most common group of inherited neurodegenerative diseases that mainly affect children. Pathological features of the NCLs include accumulation of lysosomal storage material, neuroinflammation, and neuronal degeneration, yet the exact cause of this group of diseases remains poorly understood...
July 21, 2017: Disease Models & Mechanisms
https://www.readbyqxmd.com/read/28733223/sequencing-of-fic1-bsep-and-mdr3-in-a-large-cohort-of-patients-with-cholestasis-revealed-a-high-number-of-different-genetic-variants
#19
Carola Dröge, Michele Bonus, Ulrich Baumann, Caroline Klindt, Elke Lainka, Simone Kathemann, Florian Brinkert, Enke Grabhorn, Eva-Doreen Pfister, Daniel Wenning, Alexander Fichtner, Daniel N Gotthardt, Karl Heinz Weiss, Patrick McKiernan, Ratna Dua Puri, I C Verma, Stefanie Kluge, Holger Gohlke, Lutz Schmitt, Ralf Kubitz, Dieter Häussinger, Verena Keitel
BACKGROUND&AIMS: The bile salt export pump (BSEP, ABCB11), multidrug resistance protein 3 (MDR3, ABCB4) and the ATPase familial intrahepatic cholestasis 1 (FIC1, ATP8B1) mediate bile formation. Mutations in these genes underlie cholestatic liver diseases ranging from intrahepatic cholestasis of pregnancy, benign recurrent intrahepatic cholestasis or low phospholipid-associated cholelithiasis to progressive familial intrahepatic cholestasis. METHODS: Coding exons with flanking intron regions of ATP8B1, ABCB11, and ABCB4 were sequenced in cholestatic patients with assumed genetic cause...
July 18, 2017: Journal of Hepatology
https://www.readbyqxmd.com/read/28732149/beware-of-the-origin-of-numbers-standard-scoring-of-the-sf-12-and-sf-36-summary-measures-distorts-measurement-and-score-interpretations
#20
Peter Hagell, Albert Westergren, Kristofer Årestedt
The 12-item Short Form Health Survey (SF-12) is a generic health rating scale developed to reproduce the Physical and Mental Component Summary scores (PCS and MCS, respectively) of a longer survey, the SF-36. The standard PCS/MCS scoring algorithm has been criticized because its expected dimensionality often lacks empirical support, scoring is based on the assumption that physical and mental health are uncorrelated, and because scores on physical health items influence MCS scores, and vice versa. In this paper, we review the standard PCS/MCS scoring algorithm for the SF-12 and consider alternative scoring procedures: the RAND-12 Health Status Inventory (HSI) and raw sum scores...
August 2017: Research in Nursing & Health
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