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https://www.readbyqxmd.com/read/29352308/high-efficiency-production-of-human-serum-albumin-in-the-posterior-silk-glands-of-transgenic-silkworms-bombyx-mori-l
#1
Qiujie Qian, Zhengying You, Lupeng Ye, Jiaqian Che, Yiran Wang, Shaohua Wang, Boxiong Zhong
Human serum albumin (HSA) is an important biological preparation with a variety of biological functions in clinical applications. In this study, the mRNA of a fusion transposase derived from the pESNT-PBase plasmid and a pBHSA plasmid containing the HSA gene under the control of a fibroin light chain (FL) promoter were co-injected into fertilized eggs. Fifty-six transgenic silkworm pedigrees expressing theexogenous recombinant HSA (rHSA) in the posterior silk glands (PSGs) with stable inheritance were successfully obtained...
2018: PloS One
https://www.readbyqxmd.com/read/29352079/identification-and-validation-of-a-new-source-of-low-grain-cadmium-accumulation-in-durum-wheat
#2
Atena Oladzad Abbasabadi, Ajay Kumar, Seyed Pirseyedi, Evan Salsman, Marina Dobrydina, Roshan Sharma Poudel, Wesam A AbuHammad, Shiaoman Chao, Justin D Faris, Elias M Elias
Cadmium (Cd) is a heavy metal that has no known biological function and is toxic for many living organisms. The maximum level of Cd concentration allowed in the international market for wheat grain is 0.2 mg kg-1. Because phenotyping for Cd uptake is expensive and time consuming, molecular markers associated with genes conferring low Cd uptake would expedite selection and lead to the development of durum cultivars with reduced Cd concentrations. Here, we identified single nucleotide polymorphisms (SNPs) associated with a novel low Cd uptake locus in the durum experimental line D041735, which has hexaploid common wheat in its pedigree...
January 19, 2018: G3: Genes—Genomes—Genetics
https://www.readbyqxmd.com/read/29350691/a-novel-mutation-leu396arg-in-opa1-is-associated-with-a-severe-phenotype-in-a-large-dominant-optic-atrophy-pedigree
#3
M J Schnieders, W Goar, M Griess, B R Roos, T E Scheetz, E M Stone, J H Fingert
No abstract text is available yet for this article.
January 19, 2018: Eye
https://www.readbyqxmd.com/read/29348176/contribution-of-the-trnaile-4317a-g-mutation-to-the-phenotypic-manifestation-of-the-deafness-associated-mitochondrial-12s-rrna-1555a-g-mutation
#4
Feilong Meng, Zheyun He, Xiaowen Tang, Jing Zheng, Xiaofen Jin, Yi Zhu, Xiaoyan Ren, Mi Zhou, Meng Wang, Shasha Gong, Jun Qin Mo, Qiang Shu, Min-Xin Guan
The 1555A>G mutation in mitochondrial 12S rRNA has been associated with aminoglycoside-induced and nonsyndromic deafness in many individuals worldwide. Mitochondrial genetic modifiers are proposed to influence the phenotypic expression of m.1555A>G mutation. Here, we report that a deafness-susceptibility allele (m.4317A>G) in the tRNAIle gene modulates the phenotype expression of m.1555A>G mutation. Strikingly, a large Han Chinese pedigree carrying both m.4317A>G and m.1555A>G mutations exhibited much higher penetrance of deafness than those carrying only m...
January 18, 2018: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/29344138/clinical-and-genetic-analysis-of-tuberous-sclerosis-complex-associated-renal-angiomyolipoma-in-chinese-pedigrees
#5
Shuqiang Li, Yushi Zhang, Jinxing Wei, Xuepei Zhang
Tuberous sclerosis complex-associated renal angiomyolipoma (TSC-RAML) confers a high risk of bleeding and even mortality. However, data on TSC-RAML in Chinese pedigrees is extremely lacking. The present study aimed to investigate its clinical and genetic characteristics by obtaining a detailed medical history from 6 probands and their family members, and reassessing blood tests, computed tomography and renal dynamic imaging examinations that were conducted in the TSC-RAML patients. The TSC1/TSC2 mutation was detected in 2 families...
December 2017: Oncology Letters
https://www.readbyqxmd.com/read/29343036/-analysis-of-genotype-and-hematological-phenotype-of-14-patients-with-coinheritance-hk%C3%AE-%C3%AE-and-south-east-deletion-thalassemia
#6
L Y Zhong, F Wang, P S Chen, Y J Xie, J Y Tan, M Liu, B Huang, W B Lin
Objective: To analyze the genotype-phenotype correlations among those thalassemia samples with the presence of -α(3.7,) --(SEA) and normal α(2) alleles on their α-globin gene clusters. Methods: Fourteen patients(including 1fetus, 4 males and 9 females, aged 0- 56 years old)who were suspected diagnosed by hematologic analysis and genetic testing among 16 080 participants in our laboratory since from August 2011 to August 2016, were enrolled. Complete blood cell count was performed on XE4000i automatic hemocyte analyzer...
January 9, 2018: Zhonghua Yi Xue za Zhi [Chinese medical journal]
https://www.readbyqxmd.com/read/29339765/mutations-in-bassoon-in-individuals-with-familial-and-sporadic-progressive-supranuclear-palsy-like-syndrome
#7
Ichiro Yabe, Hiroaki Yaguchi, Yasutaka Kato, Yasuo Miki, Hidehisa Takahashi, Satoshi Tanikawa, Shinichi Shirai, Ikuko Takahashi, Mari Kimura, Yuka Hama, Masaaki Matsushima, Shinsuke Fujioka, Takahiro Kano, Masashi Watanabe, Shin Nakagawa, Yasuyuki Kunieda, Yoshio Ikeda, Masato Hasegawa, Hiroshi Nishihara, Toshihisa Ohtsuka, Shinya Tanaka, Yoshio Tsuboi, Shigetsugu Hatakeyama, Koichi Wakabayashi, Hidenao Sasaki
Clinical diagnosis of progressive supranuclear palsy (PSP) is sometimes difficult because various phenotypes have been identified. Here, we report a mutation in the bassoon (BSN) gene in a family with PSP-like syndrome. Their clinical features resembled not only those of PSP patients but also those of individuals with multiple system atrophy and Alzheimer's disease. The neuropathological findings showed a novel three + four repeat tauopathy with pallido-luysio-nigral degeneration and hippocampal sclerosis...
January 16, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29339498/mafa-missense-mutation-causes-familial-insulinomatosis-and-diabetes-mellitus
#8
Donato Iacovazzo, Sarah E Flanagan, Emily Walker, Rosana Quezado, Fernando Antonio de Sousa Barros, Richard Caswell, Matthew B Johnson, Matthew Wakeling, Michael Brändle, Min Guo, Mary N Dang, Plamena Gabrovska, Bruno Niederle, Emanuel Christ, Stefan Jenni, Bence Sipos, Maike Nieser, Andrea Frilling, Ketan Dhatariya, Philippe Chanson, Wouter W de Herder, Björn Konukiewitz, Günter Klöppel, Roland Stein, Márta Korbonits, Sian Ellard
The β-cell-enriched MAFA transcription factor plays a central role in regulating glucose-stimulated insulin secretion while also demonstrating oncogenic transformation potential in vitro. No disease-causing MAFA variants have been previously described. We investigated a large pedigree with autosomal dominant inheritance of diabetes mellitus or insulinomatosis, an adult-onset condition of recurrent hyperinsulinemic hypoglycemia caused by multiple insulin-secreting neuroendocrine tumors of the pancreas. Using exome sequencing, we identified a missense MAFA mutation (p...
January 16, 2018: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/29338003/the-prevalence-of-autosomal-dominant-polycystic-kidney-disease-adpkd-a-meta-analysis-of-european-literature-and-prevalence-evaluation-in-the-italian-province-of-modena-suggest-that-adpkd-is-a-rare-and-underdiagnosed-condition
#9
Andrea Solazzo, Francesca Testa, Silvia Giovanella, Marco Busutti, Luciana Furci, Paola Carrera, Maurizio Ferrari, Giulia Ligabue, Giacomo Mori, Marco Leonelli, Gianni Cappelli, Riccardo Magistroni
BACKGROUND AND OBJECTIVES: ADPKD is erroneously perceived as a not rare condition, which is mainly due to the repeated citation of a mistaken interpretation of old epidemiological data, as reported in the Dalgaard's work (1957). Even if ADPKD is not a common condition, the correct prevalence of ADPKD in the general population is uncertain, with a wide range of estimations reported by different authors. In this work, we have performed a meta-analysis of available epidemiological data in the European literature...
2018: PloS One
https://www.readbyqxmd.com/read/29335620/maternal-dominance-and-additive-genetic-effects-in-nile-tilapia-influence-on-growth-fillet-yield-and-body-size-traits
#10
R Joshi, J A Woolliams, The Meuwissen, H M Gjøen
There are only few studies of dominance effects in non-inbred aquaculture species, since commonly used mating designs often have low power to separate dominance, maternal and common environmental effects. Here, a factorial design with reciprocal cross, common rearing of eggs and subsequent lifecycle stages and pedigree assignment using DNA microsatellites was used to separate these effects and estimate dominance (d2) and maternal (m2) ratios in Nile tilapia for six commercial traits. The study included observations on 2524 offspring from 155 full-sib families...
January 16, 2018: Heredity
https://www.readbyqxmd.com/read/29335530/segregation-of-mitochondrial-dna-heteroplasmy-through-a-developmental-genetic-bottleneck-in-human-embryos
#11
Vasileios I Floros, Angela Pyle, Sabine Dietmann, Wei Wei, Walfred W C Tang, Naoko Irie, Brendan Payne, Antonio Capalbo, Laila Noli, Jonathan Coxhead, Gavin Hudson, Moira Crosier, Henrik Strahl, Yacoub Khalaf, Mitinori Saitou, Dusko Ilic, M Azim Surani, Patrick F Chinnery
Mitochondrial DNA (mtDNA) mutations cause inherited diseases and are implicated in the pathogenesis of common late-onset disorders, but how they arise is not clear1,2. Here we show that mtDNA mutations are present in primordial germ cells (PGCs) within healthy female human embryos. Isolated PGCs have a profound reduction in mtDNA content, with discrete mitochondria containing ~5 mtDNA molecules. Single-cell deep mtDNA sequencing of in vivo human female PGCs showed rare variants reaching higher heteroplasmy levels in late PGCs, consistent with the observed genetic bottleneck...
January 15, 2018: Nature Cell Biology
https://www.readbyqxmd.com/read/29331980/dmc1-mutation-that-causes-human-non-obstructive-azoospermia-and-premature-ovarian-insufficiency-identified-by-whole-exome-sequencing
#12
Wen-Bin He, Chao-Feng Tu, Qiang Liu, Lan-Lan Meng, Shi-Min Yuan, Ai-Xiang Luo, Fu-Sheng He, Juan Shen, Wen Li, Juan Du, Chang-Gao Zhong, Guang-Xiu Lu, Ge Lin, Li-Qing Fan, Yue-Qiu Tan
BACKGROUND: The genetic causes of the majority of male and female infertility caused by human non-obstructive azoospermia (NOA) and premature ovarian insufficiency (POI) with meiotic arrest are unknown. OBJECTIVE: To identify the genetic cause of NOA and POI in two affected members from a consanguineous Chinese family. METHODS: We performed whole-exome sequencing of DNA from both affected patients. The identified candidate causative gene was further verified by Sanger sequencing for pedigree analysis in this family...
January 13, 2018: Journal of Medical Genetics
https://www.readbyqxmd.com/read/29330334/detection-of-heterozygous-mutation-in-hook-microtubule-tethering-protein-1-in-three-patients-with-decapitated-and-decaudated-spermatozoa-syndrome
#13
Huixing Chen, Yong Zhu, Zijue Zhu, Erlei Zhi, Keming Lu, Xiaobo Wang, Feng Liu, Zheng Li, Weiliang Xia
BACKGROUND: The mechanism of intramanchette transport is crucial to the transformation of sperm tail and the nuclear condensation during spermiogenesis. Although few dysfunctional proteins could result in abnormal junction between the head and tail of spermatozoon, little is known about the genetic cues in this process. OBJECTIVE: Based on patients with severe decapitated and decaudated spermatozoa (DDS) syndrome, the study aimed to validate whether new mutation exists on their Hook microtubule-tethering protein 1 (HOOK1) genes and follow their results of assisted reproduction treatment (ART)...
January 12, 2018: Journal of Medical Genetics
https://www.readbyqxmd.com/read/29328376/identification-of-a-novel-compound-heterozygous-mutation-of-the-cyp21a2-gene-causing-21%C3%A2-hydroxylase-deficiency-in-a-chinese-pedigree
#14
Jia Liu, Xiujuan Zhang, Haiqing Zhang, Li Fang, Jin Xu, Qingbo Guan, Chao Xu
21‑Hydroxylase deficiency (21‑OHD) is the most common cause of congenital adrenal hyperplasia. Inherited in an autosomal recessive manner, 21‑OHD is caused by mutations in the cytochrome P450 family 21 subfamily A member 2 (CYP21A2) gene. The present study was designed to investigate the genetic characteristics of one Chinese pedigree and to identify the genotype‑phenotype association, thereby facilitating the precise diagnosis of 21‑OHD at the molecular level. Members of a Chinese family with 21‑OHD were screened for mutations in the CYP21A2 gene...
January 8, 2018: Molecular Medicine Reports
https://www.readbyqxmd.com/read/29325334/-analysis-on-the-novel-compound-heterozygous-mutation-f%C3%A2-%C2%AA-of-a-patient-with-hereditary-factor-%C3%A2-%C2%AA-deficiency
#15
K Xu, K Y Shu, F F Li, T Chen, J Liu, S S Jin, J J Guo, Z H Zhang, M H Jiang
Objective: To investigate the clinical phenotype and genotype characteristics of a Chinese hereditary factor Ⅺ deficiency pedigree. Methods: The activated partial thromboplastin time (APTT), prothrombin time (PT), FⅪ activity (FⅪ: C) were measured by clotting method using automatic coagulation analyzer. The FⅪ antigen (FⅪ: Ag) was assayed by enzyme-linked immunosorbent assay (ELISA). Fifteen exons of F11 from the proband and his pedigree members were amplified by polymerase chain reaction (PCR), then sequenced...
December 26, 2017: Zhonghua Yi Xue za Zhi [Chinese medical journal]
https://www.readbyqxmd.com/read/29324801/clinical-characteristics-and-registry-validated-extended-pedigrees-of-germline-tp53-mutation-carriers-in-denmark
#16
Ulrik Stoltze, Anne-Bine Skytte, Henriette Roed, Henrik Hasle, Bent Ejlertsen, Thomas van Overeem Hansen, Kjeld Schmiegelow, Anne-Marie Gerdes, Karin Wadt
INTRODUCTION: TP53 mutation carrier (Li-Fraumeni Syndrome, LFS) cohort studies often suffer from lack of extensive pedigree exploration. METHODS: We performed a nation-wide exploration of TP53 mutation carrier families identified through all clinical genetics departments in Denmark. Pedigrees were expanded and verified using unique national person identification, cancer, cause of death, pathology, and church registries. RESULTS: We identified 30 confirmed, six obligate and 14 assumed carriers in 15 families harboring 14 different mutations, including five novel and three de novo germline mutations...
2018: PloS One
https://www.readbyqxmd.com/read/29321673/genomic-analysis-of-family-data-reveals-additional-genetic-effects-on-intelligence-and-personality
#17
W David Hill, Ruben C Arslan, Charley Xia, Michelle Luciano, Carmen Amador, Pau Navarro, Caroline Hayward, Reka Nagy, David J Porteous, Andrew M McIntosh, Ian J Deary, Chris S Haley, Lars Penke
Pedigree-based analyses of intelligence have reported that genetic differences account for 50-80% of the phenotypic variation. For personality traits these effects are smaller, with 34-48% of the variance being explained by genetic differences. However, molecular genetic studies using unrelated individuals typically report a heritability estimate of around 30% for intelligence and between 0 and 15% for personality variables. Pedigree-based estimates and molecular genetic estimates may differ because current genotyping platforms are poor at tagging causal variants, variants with low minor allele frequency, copy number variants, and structural variants...
January 10, 2018: Molecular Psychiatry
https://www.readbyqxmd.com/read/29319599/long-term-outcome-after-penetrating-keratoplasty-in-a-pedigree-with-the-g177e-mutation-in-the-ubiad1-gene-for-schnyder-corneal-dystrophy
#18
Koji Kitazawa, Koichi Wakimasu, Kanae Kayukawa, Manabu Sugimoto, Junko Nakai, Jayne S Weiss, Morio Ueno, Chie Sotozono, Shigeru Kinoshita
PURPOSE: To investigate the long-term surgical outcome after penetrating keratoplasty in 5 patients from 1 pedigree with Schnyder corneal dystrophy (SCD), resulting from the same UbiA prenyltransferase domain containing 1 (UBIAD1) mutation. METHODS: This retrospective study involved 6 eyes of 5 patients who underwent penetrating keratoplasty for treatment of SCD. Postoperative surgical outcome measures included the analysis of best-corrected visual acuity (BCVA), corneal endothelial cell density, and the rates of corneal graft rejection and disease recurrence...
January 9, 2018: Cornea
https://www.readbyqxmd.com/read/29319195/strategies-for-phasing-and-imputation-in-a-population-isolate
#19
Anthony Francis Herzig, Teresa Nutile, Marie-Claude Babron, Marina Ciullo, Céline Bellenguez, Anne-Louise Leutenegger
In the search for genetic associations with complex traits, population isolates offer the advantage of reduced genetic and environmental heterogeneity. In addition, cost-efficient next-generation association approaches have been proposed in these populations where only a subsample of representative individuals is sequenced and then genotypes are imputed into the rest of the population. Gene mapping in such populations thus requires high-quality genetic imputation and preliminary phasing. To identify an effective study design, we compare by simulation a range of phasing and imputation software and strategies...
January 10, 2018: Genetic Epidemiology
https://www.readbyqxmd.com/read/29318463/a-novel-splice-site-mutation-of-the-prkar1a-gene-c-440-5-g-c-in-a-chinese-family-with-carney-complex
#20
J Fu, F Lai, Y Chen, X Wan, G Wei, Y Li, H Xiao, X Cao
BACKGROUND: Carney complex (CNC) is an extremely rare, multiple endocrine neoplasia syndrome that occurs in an autosomal dominant manner. Mutations in PRKAR1A have been reported to be a common genetic cause of CNC. METHODS: In this study, we reported a Chinese pedigree of CNC that manifests mainly as spotty skin pigmentation and primary pigmented nodular adrenocortical disease. Whole blood samples of this pedigree were collected for DNA/RNA analysis. Polymerase chain reaction (PCR) and reverse-transcription polymerase chain reaction analyses were performed to amplify the 11 exons and adjacent introns of PRKAR1A...
January 9, 2018: Journal of Endocrinological Investigation
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