keyword
MENU ▼
Read by QxMD icon Read
search

Hereditary

keyword
https://www.readbyqxmd.com/read/27926837/the-significance-of-the-location-of-mutations-for-the-native-state-dynamics-of-human-lysozyme
#1
Minkoo Ahn, Christine L Hagan, Ana Bernardo-Gancedo, Erwin De Genst, Francisco N Newby, John Christodoulou, Anne Dhulesia, Mireille Dumoulin, Carol V Robinson, Christopher M Dobson, Janet R Kumita
The conversion of human lysozyme into amyloid fibrils is associated with a rare but fatal hereditary form of nonneuropathic systemic amyloidosis. The accumulation of large amounts of aggregated protein is thought to be initiated by the formation of transient intermediate species of disease-related lysozyme variants, essentially due to the loss of global cooperativity under physiologically relevant conditions. Interestingly, all five naturally occurring, amyloidogenic, single-point mutations are located in the β-domain of lysozyme, the region that is predominantly unfolded during the formation of the transient intermediate species...
December 6, 2016: Biophysical Journal
https://www.readbyqxmd.com/read/27926510/genetic-and-epigenetic-characterization-of-the-brca1-gene-in-brazilian-women-at-risk-for-hereditary-breast-cancer
#2
Paula Silva Felicio, Matias Eliseo Melendez, Lidia Maria Rebolho Batista Arantes, Ligia Maria Kerr, Dirce Maria Carraro, Rebeca Silveira Grasel, Natalia Campacci, Cristovam Scapulatempo-Neto, Gabriela Carvalho Fernandes, Ana Carolina de Carvalho, Edenir Inêz Palmero
This study aimed to characterize women at-risk for hereditary BC regarding their clinical and molecular characteristics (mutation and methylation in the BRCA1 gene) and correlate the gene expression levels with histopathological, clinical and family history information. BRCA1 real time qPCR was performed to evaluate methylation status and gene expression. The study included 88 women grouped according to the BRCA1 mutational status: 23 BRCA1 mutated, 22 with a Variant of Unknown Significance (VUS) in BRCA1 and 43 BRCA1 WT...
December 1, 2016: Oncotarget
https://www.readbyqxmd.com/read/27926368/genetic-syndromes-with-pancreatic-manifestations
#3
REVIEW
Meredith E Pittman, Lodewijk A A Brosens, Laura D Wood
Although the pancreas is affected by only a small fraction of known inherited disorders, several of these syndromes predispose patients to pancreatic adenocarcinoma, a cancer that has a consistently dismal prognosis. Still other syndromes are associated with neuroendocrine tumors, benign cysts, or recurrent pancreatitis. Because of the variability of pancreatic manifestations and outcomes, it is important for clinicians to be familiar with several well-described genetic disorders to ensure that patients are followed appropriately...
December 2016: Surgical Pathology Clinics
https://www.readbyqxmd.com/read/27925686/slc4a11-three-dimensional-homology-model-rationalizes-corneal-dystrophy-causing-mutations
#4
Katherine E Badior, Kumari Alka, Joseph R Casey
We studied the structural effects of point mutations of a membrane protein that cause genetic disease. SLC4A11 is a membrane transport protein (OH(-) /H(+) /NH3 /H2 O) of basolateral corneal endothelium, whose mutations cause some cases of Congenital Hereditary Endothelial Dystrophy and Fuchs Endothelial Corneal Dystrophy. We created a three-dimensional homology model of SLC4A11 membrane domain, using Band 3 (SLC4A1) crystal structure as template. The homology model was assessed in silico and by analysis of mutants designed on the basis of the model...
December 7, 2016: Human Mutation
https://www.readbyqxmd.com/read/27924582/modeling-rasopathies-with-genetically-modified-mouse-models
#5
Isabel Hernández-Porras, Carmen Guerra
The RAS/MAPK signaling pathway plays key roles in development, cell survival and proliferation, as well as in cancer pathogenesis. Molecular genetic studies have identified a group of developmental syndromes, the RASopathies, caused by germ line mutations in this pathway. The syndromes included within this classification are neurofibromatosis type 1 (NF1), Noonan syndrome (NS), Noonan syndrome with multiple lentigines (NS-ML, formerly known as LEOPARD syndrome), Costello syndrome (CS), cardio-facio-cutaneous syndrome (CFC), Legius syndrome (LS, NF1-like syndrome), capillary malformation-arteriovenous malformation syndrome (CM-AVM), and hereditary gingival fibromatosis (HGF) type 1...
2017: Methods in Molecular Biology
https://www.readbyqxmd.com/read/27923559/nrf2-protects-photoreceptor-cells-from-photo-oxidative-stress-induced-by-blue-light
#6
Wan-Ju Chen, Caiying Wu, Zhenhua Xu, Yoshiki Kuse, Hideaki Hara, Elia J Duh
Oxidative stress plays a key role in age-related macular degeneration and hereditary retinal degenerations. Light damage in rodents has been used extensively to model oxidative stress-induced photoreceptor degeneration, and photo-oxidative injury from blue light is particularly damaging to photoreceptors. The endogenous factors protecting photoreceptors from oxidative stress, including photo-oxidative stress, are continuing to be elucidated. In this study, we evaluated the effect of blue light exposure on photoreceptors and its relationship to Nrf2 using cultured murine photoreceptor (661W) cells...
December 3, 2016: Experimental Eye Research
https://www.readbyqxmd.com/read/27923065/mutations-in-the-heme-exporter-flvcr1-cause-sensory-neurodegeneration-with-loss-of-pain-perception
#7
Deborah Chiabrando, Marco Castori, Maja di Rocco, Martin Ungelenk, Sebastian Gießelmann, Matteo Di Capua, Annalisa Madeo, Paola Grammatico, Sophie Bartsch, Christian A Hübner, Fiorella Altruda, Lorenzo Silengo, Emanuela Tolosano, Ingo Kurth
Pain is necessary to alert us to actual or potential tissue damage. Specialized nerve cells in the body periphery, so called nociceptors, are fundamental to mediate pain perception and humans without pain perception are at permanent risk for injuries, burns and mutilations. Pain insensitivity can be caused by sensory neurodegeneration which is a hallmark of hereditary sensory and autonomic neuropathies (HSANs). Although mutations in several genes were previously associated with sensory neurodegeneration, the etiology of many cases remains unknown...
December 2016: PLoS Genetics
https://www.readbyqxmd.com/read/27922502/the-limb-girdle-muscular-dystrophies-and-the-dystrophinopathies
#8
Stanley Jones P Iyadurai, John T Kissel
PURPOSE OF REVIEW: The classic approach to identifying and accurately diagnosing limb-girdle muscular dystrophies (LGMDs) relied heavily on phenotypic characterization and ancillary studies including muscle biopsy. Because of rapid advances in genetic sequencing methodologies, several additional LGMDs have been molecularly characterized, and the diagnostic approach to these disorders has been simplified. This article summarizes the epidemiology, clinical features, and genetic defects underlying the LGMDs...
December 2016: Continuum: Lifelong Learning in Neurology
https://www.readbyqxmd.com/read/27922494/approach-to-the-patient-with-hyperckemia
#9
Shannon L Venance
PURPOSE OF REVIEW: Neurologists commonly receive consultation requests regarding the evaluation of patients with an elevated serum creatine kinase (CK), a condition known as hyperCKemia. This article outlines an approach to the history and examination of patients with hyperCKemia in order to narrow the localization and differential of an elevated CK and guide possible next steps. This article aims to help clinicians identify treatable or reversible etiologies as well as those that will change management...
December 2016: Continuum: Lifelong Learning in Neurology
https://www.readbyqxmd.com/read/27922245/a-novel-mutation-in-a-case-of-pseudohypoparathyroidism-type-ia
#10
Birgül Kırel, Meliha Demiral, Özkan Bozdağ, Kadri Karaer
Pseudohypoparathyroidism (PHP) type Ia is characterized by multiple hormone resistance; primarily parathyroid hormone (PTH) resistance and Albright's hereditary osteodystrophy (AHO) which involves skeletal and developmental defects. The AHO phenotype alone without hormone resistance is defined as pseudoPHP. A boy was first diagnosed as having both rickets and primary hypothyroidism at 2.5 months of age. His calcium level remained within normal levels after vitamin D treatment, but, elevated PTH and ALP levels and normal-high phosphate levels persisted during his follow-up by age of 2...
2016: Turkish Journal of Pediatrics
https://www.readbyqxmd.com/read/27921132/-differential-diagnosis-of-juvenile-normal-pressure-glaucoma
#11
K Geidel, P Wiedemann, J D Unterlauft
The case of a 50-year-old female patient with autosomal dominant optic atrophy is described, which was initially misinterpreted and treated as normal pressure glaucoma. Bilateral partial optic atrophy can be diagnosed by chance with mild manifestation of symptoms and can initially be misinterpreted as glaucoma. Taking a detailed medical history and performing a thorough optic nerve head examination can raise the suspicion of hereditary optic atrophy. The reliable detection of autosomal dominant optic atrophy by genetic investigations should be strived for in such cases...
December 5, 2016: Der Ophthalmologe: Zeitschrift der Deutschen Ophthalmologischen Gesellschaft
https://www.readbyqxmd.com/read/27921039/clinical-manifestation-and-management-of-adpkd-in-western-countries
#12
REVIEW
Claudia Sommerer, Martin Zeier
BACKGROUND: Autosomal dominant polycystic kidney disease (ADPKD) is the most common hereditary kidney disease in Western countries. The prevalence is between 2.4/10,000 and 3.9/10,000. ADPKD represents a systemic disease resulting in deterioration in renal function. Until now, mutations in two genes (PKD1 and PKD2) have been identified. Recently, the European Medicines Agency (EMA) approved the use of the vasopressin V2 receptor antagonist tolvaptan to slow the progression of cyst development and renal insufficiency connected with ADPKD in adult patients with chronic kidney disease stages 1-3 at initiation of treatment with evidence of rapidly progressing disease...
October 2016: Kidney Diseases
https://www.readbyqxmd.com/read/27921038/the-clinical-manifestation-and-management-of-autosomal-dominant-polycystic-kidney-disease-in-china
#13
REVIEW
Cheng Xue, Chen-Chen Zhou, Ming Wu, Chang-Lin Mei
BACKGROUND: Autosomal dominant polycystic kidney disease (ADPKD) is the most common monogenic hereditary kidney disease characterized by progressive enlargement of renal cysts. The incidence is 1-2‰ worldwide. Mutations in two genes (PKD1 and PKD2) cause ADPKD. Currently, there is no pharmaceutical treatment available for ADPKD patients in China. Summary: This review focused on advances in clinical manifestation, gene diagnosis, risk factors, and management of ADPKD in China. There is an age-dependent increase in total kidney volume (TKV) and decrease in renal function in Chinese ADPKD patients...
October 2016: Kidney Diseases
https://www.readbyqxmd.com/read/27920806/hereditary-multiple-exostoses-a-review-of-clinical-appearance-and-metabolic-pattern
#14
REVIEW
Giovanni Beltrami, Gabriele Ristori, Guido Scoccianti, Angela Tamburini, Rodolfo Capanna
Hereditary multiple exostoses (HME) is an inherited genetic condition characterized by the presence of multiple exostoses (osteochondromas). MHE is a relatively rare autosomal dominant disorder, mainly caused by loss of function mutations in two genes: exostosin-1 (EXT1) and exostosin-2 (EXT2). These genes are linked to heparan sulfate (HS) synthesis, but the specific molecular mechanism leading to the disruption of the cartilage structure and the consequent exostoses formation is still not resolved. The aim of this paper is to encounter the main aspects of HME reviewing the literature, in order to improve clinical features and evolution, and the metabolic-pathogenetic mechanisms underlying...
May 2016: Clinical Cases in Mineral and Bone Metabolism
https://www.readbyqxmd.com/read/27919470/spontaneous-sublingual-haematoma-in-acquired-haemophilia-case-report
#15
T Spindler, N Mc Goldrick, J McMahon, R Campbell Tait
Acquired haemophilia is a rare disease in which bleeding is more severe than in hereditary haemophilia and usually occurs in the soft tissues, the gastrointestinal tract, or the mucous membranes. There have been only a few presentations of spontaneous sublingual haematoma in acquired haemophilia, but prompt management of the airway and identification of the underlying cause was crucial in all.
December 2, 2016: British Journal of Oral & Maxillofacial Surgery
https://www.readbyqxmd.com/read/27919340/consequences-of-irradiation-on-adult-spermatogenesis-between-infertility-and-hereditary-risk
#16
Henri-Baptiste Marjault, Isabelle Allemand
DNA damage response in adult spermatogenic cells should limit the propagation of mutations to the offspring, without being detrimental to fertility. In differentiating spermatogenic cells, the genomic instability is limited in time, whereas in spermatogonial stem cells it can be maintained all along life. Spermatogonial stem cells are long-lived cells that support normal germ cell differentiation and must be preserved throughout life. However after irradiation spermatogenesis recovery can be impaired as a consequence of the radiation-induced decline in spermatogonial stem cell...
October 2016: Mutation Research
https://www.readbyqxmd.com/read/27919248/bone-mineral-density-in-patients-with-multiple-sclerosis-hereditary-ataxia-or-hereditary-spastic-paraplegia-after-at-least-10%C3%A2-years-of-disease-a-case-control-study
#17
Cecilia Smith Simonsen, Elisabeth Gulowsen Celius, Cathrine Brunborg, Chantal Tallaksen, Erik Fink Eriksen, Trygve Holmøy, Stine Marit Moen
BACKGROUND: Although disability is considered the main cause of low bone mineral density (BMD) in multiple sclerosis (MS), other factors related to the disease process or treatment could also be involved. The aim of this study was to assess whether patients with MS are more likely to develop low BMD (osteopenia or osteoporosis) than patients with the non-inflammatory neurological diseases Hereditary Spastic Paraplegia (HSP) and Hereditary Ataxia (HA). METHODS: We performed a case control study comparing BMD (spine, hip and total body) and biochemical measures of bone metabolism in 91 MS patients and 77 patients with HSP or HA, matched for age, gender and disability...
December 5, 2016: BMC Neurology
https://www.readbyqxmd.com/read/27917352/interval-valued-fuzzy-formula-see-text-tolerance-competition-graphs
#18
Tarasankar Pramanik, Sovan Samanta, Madhumangal Pal, Sukumar Mondal, Biswajit Sarkar
This paper develops an interval-valued fuzzy [Formula: see text]-tolerance competition graphs which is the extension of basic fuzzy graphs and [Formula: see text] is any real valued function. Interval-valued fuzzy [Formula: see text]-tolerance competition graph is constructed by taking all the fuzzy sets of a fuzzy [Formula: see text]-tolerance competition graph as interval-valued fuzzy sets. Product of two IVFPTCGs and relations between them are defined. Here, some hereditary properties of products of interval-valued fuzzy [Formula: see text]-tolerance competition graphs are represented...
2016: SpringerPlus
https://www.readbyqxmd.com/read/27917291/mutations-in-phosphodiesterase-6-identified-in-familial-cases-of-retinitis-pigmentosa
#19
Inayat Ullah, Firoz Kabir, Clare Brooks S Gottsch, Muhammad Asif Naeem, Aditya A Guru, Radha Ayyagari, Shaheen N Khan, Sheikh Riazuddin, Javed Akram, S Amer Riazuddin
To delineate the genetic determinants associated with retinitis pigmentosa (RP), a hereditary retinal disorder, we recruited four large families manifesting cardinal symptoms of RP. We localized these families to regions on the human genome harboring the α and β subunits of phosphodiesterase 6 and identified mutations that were absent in control chromosomes. Our data suggest that mutations in PDE6A and PDE6B are responsible for the retinal phenotype in these families.
2016: Human Genome Variation
https://www.readbyqxmd.com/read/27916885/development-of-genetic-testing-for-fragile-x-syndrome-and-associated-disorders-and-estimates-of-the-prevalence-of-fmr1-expansion-mutations
#20
REVIEW
James N Macpherson, Anna Murray
The identification of a trinucleotide (CGG) expansion as the chief mechanism of mutation in Fragile X syndrome in 1991 heralded a new chapter in molecular diagnostic genetics and generated a new perspective on mutational mechanisms in human genetic disease, which rapidly became a central paradigm ("dynamic mutation") as more and more of the common hereditary neurodevelopmental disorders were ascribed to this novel class of mutation. The progressive expansion of a CGG repeat in the FMR1 gene from "premutation" to "full mutation" provided an explanation for the "Sherman paradox," just as similar expansion mechanisms in other genes explained the phenomenon of "anticipation" in their pathogenesis...
November 30, 2016: Genes
keyword
keyword
12217
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"