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JOURNAL ARTICLE
Alexis Powers, Simon F Peek, Steve Reed, Callum G Donnelly, Stacey Tinkler, David Gasper, Kevin D Woolard, Carrie J Finno
BACKGROUND: Equine neuroaxonal dystrophy/degenerative myeloencephalopathy (eNAD/EDM) is a neurodegenerative disease that primarily affects young, genetically predisposed horses that are deficient in vitamin E. Equine NAD/EDM has not previously been documented in Gypsy Vanner horses (GVs). OBJECTIVES: To evaluate: (1) the clinical phenotype, blood vitamin E concentrations before and after supplementation and pedigree in a cohort of GV horses with a high prevalence of neurologic disease suspicious for eNAD/EDM and (2) to confirm eNAD/EDM in GVs through postmortem evaluation...
April 13, 2024: Journal of Veterinary Internal Medicine
#2
JOURNAL ARTICLE
S Tenhunen, J R Thomasen, L P Sørensen, P Berg, M Kargo
In recent years, Genomic Selection (GS) has accelerated genetic gain in dairy cattle breeds worldwide. Despite the evident genetic progress, several dairy populations have also encountered challenges such as heightened inbreeding rates and reduced effective population sizes. The challenge has been to find a balance between achieving substantial genetic gain while managing genetic diversity within the population, thereby mitigating the negative effects of inbreeding depression. This study aims to elucidate the impact of GS on pedigree and genomic rates of inbreeding (ΔF) and coancestry (ΔC) in Nordic Jersey (NJ) and Holstein (NH) cattle populations...
April 10, 2024: Journal of Dairy Science
#3
JOURNAL ARTICLE
Yan Qiao, Jinghong Zhao, Ji Wu, Lewei Cao, Guiqin Song, Jingxin Mao
RATIONALE: Gitelman syndrome (GS), also known as familial hypokalemia and hypomagnesemia, is a rare autosomal recessive inherited disease caused by primary renal desalinization caused by impaired reabsorption of sodium and chloride ions in the distal renal tubules. We report a case of clinical and genetic characteristics of GS accompanied with Graves disease and adrenocorticotrophic hormone (ACTH)-independent adrenocortical adenoma. PATIENT CONCERNS: The patient is a 45 year old female, was admitted to our hospital, due to a left adrenal gland occupying lesion as the chief complaint...
April 12, 2024: Medicine (Baltimore)
#4
JOURNAL ARTICLE
Assunta Trinchillo, Valeria Valente, Marcello Esposito, Miriana Migliaccio, Aniello Iovino, Michele Picciocchi, Nunzia Cuomo, Carmela Caccavale, Cristofaro Nocerino, Laura De Rosa, Elena Salvatore, Giovanna Maria Pierantoni, Valeria Menchise, Simona Paladino, Chiara Criscuolo
BACKGROUND: SPG18 is caused by mutations in the endoplasmic reticulum lipid raft associated 2 (ERLIN2) gene. Autosomal recessive (AR) mutations are usually associated with complicated hereditary spastic paraplegia (HSP), while autosomal dominant (AD) mutations use to cause pure SPG18. AIM: To define the variegate clinical spectrum of the SPG18 and to evaluate a dominant negative effect of erlin2 (encoded by ERLIN2) on oligomerization as causing differences between AR and AD phenotypes...
April 12, 2024: Neurological Sciences
#5
JOURNAL ARTICLE
Natalia Cristina Aguirre, Pamela Victoria Villalba, Martín Nahuel García, Carla Valeria Filippi, Juan Gabriel Rivas, María Carolina Martínez, Cintia Vanesa Acuña, Augusto J López, Juan Adolfo López, Pablo Pathauer, Dino Palazzini, Leonel Harrand, Javier Oberschelp, Martín Alberto Marcó, Esteban Felipe Cisneros, Rocío Carreras, Ana Maria Martins Alves, José Carlos Rodrigues, H Esteban Hopp, Dario Grattapaglia, Eduardo Pablo Cappa, Norma Beatriz Paniego, Susana Noemí Marcucci Poltri
Eucalyptus dunnii is one of the most important Eucalyptus species for short-fiber pulp production in regions where other species of the genus are affected by poor soil and climatic conditions. In this context, E. dunnii holds promise as a resource to address and adapt to the challenges of climate change. Despite its rapid growth and favorable wood properties for solid wood products, the advancement of its improvement remains in its early stages. In this work, we evaluated the performance of two single nucleotide polymorphism, (SNP), genotyping methods for population genetics analysis and Genomic Selection in E...
2024: Frontiers in Genetics
#6
JOURNAL ARTICLE
Seung-Young Oh, Giyong Jang, Jaeryuk Kim, Kyoung-Yun Jeong, Hyun Myong Kim, Yoon Jin Kwak, Seong-Ho Kong, Do Joong Park, Hyuk-Joon Lee, Sung-Yup Cho, Jong-Il Kim, Han-Kwang Yang
PURPOSE: Hereditary diffuse gastric cancer (HDGC) presents a significant genetic predisposition, notably linked to mutations in the CDH1 and CTNNA1. However, the genetic basis for over half of HDGC cases remains unidentified. The aim of this study is to identify novel pathogenic variants in HDGC and evaluate their protein expression. MATERIALS AND METHODS: Among 20 qualifying families, two were selected based on available pedigree and DNA. Whole genome sequencing (WGS) on DNA extracted from blood and whole exome sequencing (WES) on DNA from formalin-fixed paraffin-embedded tissues were performed to find potential pathogenic variants in HDGC...
April 11, 2024: Cancer Research and Treatment: Official Journal of Korean Cancer Association
#7
JOURNAL ARTICLE
Carl Veller, Graham M Coop
A central aim of genome-wide association studies (GWASs) is to estimate direct genetic effects: the causal effects on an individual's phenotype of the alleles that they carry. However, estimates of direct effects can be subject to genetic and environmental confounding and can also absorb the "indirect" genetic effects of relatives' genotypes. Recently, an important development in controlling for these confounds has been the use of within-family GWASs, which, because of the randomness of mendelian segregation within pedigrees, are often interpreted as producing unbiased estimates of direct effects...
April 2024: PLoS Biology
#8
JOURNAL ARTICLE
Shulin Yang, Zongzhe Li
PURPOSE: Congenital contractural arachnodactyly (CCA) is an extremely rare autosomal dominant connective tissue genetic disorder caused by pathogenic variants in FBN2. CCA is characterized by arachnodactyly, camptodactyly, contracture of major joints, scoliosis, pectus deformities, and crumpled ears, but rarely with lethal cardiovascular manifestations as in Marfan syndrome. It is imperative to conduct a comprehensive analysis and review of the pathogenesis of CCA resulting from pathogenic variants in FBN2 gene...
April 11, 2024: Connective Tissue Research
#9
JOURNAL ARTICLE
Da Yang, Sheng Xuan Ma, Guo Liang Zhao, Ao Gao, Zhao Kun Xu
The pedigree likelihood ratio (LR) can be used for determining kinship in the forensic kinship testing. LR can be obtained by analyzing the DNA data of Short tandem repeat (STR) and single nucleotide polymorphism (SNP) loci. With the advancement of biotechnology, increasing number of genetic markers have been identified, thereby expanding the pedigree range of kinship testing. Moreover, some of the loci are physically closer to each other and genetic linkage between loci is inevitable. LRs can be calculated by accounting for linkage or ignoring linkage (LRlinkage and LRignore , respectively)...
April 4, 2024: Legal Medicine
#10
XueMei Fan, Shuai Wang, Tianwen Chen, Wei Hu, Hui Yang
BACKGROUND: Von-Hipple Lindau syndrome is an uncommon autosomal dominant disorder. 17 years ago we diagnosed a young woman with VHL syndrome validated by Sanger sequencing, her family members were genetically tested as well, and 187 healthy people were randomly selected for VHL genetic testing as controls. We analyze the clinical and genetic characteristics of VHL syndrome in a Chinese lineage and with 17-year follow-up. CASE PRESENTATION: A woman was finally diagnosed with VHL syndrome due to the detection of a missense mutation c...
2024: Frontiers in Oncology
#11
JOURNAL ARTICLE
Paul C Megee, Virginia Uhley, James Grogan, Alan Silverman
INTRODUCTION: Foundational and clinical science integration, a long-standing goal of undergraduate medical education, benefits learners by promoting retention of critical knowledge and skills as well as their transfer to the clinical setting. We implemented a team-based learning (TBL) module in which foundational knowledge and skills from the disciplines of biochemistry, nutrition, and genetics were leveraged in a simulated patient encounter for diagnosis and management of a patient with dyslipidemia...
2024: MedEdPORTAL Publications
#12
JOURNAL ARTICLE
Anqi Chen, Xiaoyu Zhao, Junhui Wen, Xiurong Zhao, Gang Wang, Xinye Zhang, Xufang Ren, Yalan Zhang, Xue Cheng, Xiaofan Yu, Xiaohan Mei, Huie Wang, Menghan Guo, Xiaoyu Jiang, Guozhen Wei, Xue Wang, Runshen Jiang, Xing Guo, Zhonghua Ning, Lujiang Qu
The age of first egg (AFE) in chicken can affect early and even life-time egg production performance to some extent, and therefore is an important economic trait that affects production efficiency. To better understand the genetic patterns of AFE and other production traits including body weight at first egg (BWA), first egg weight (FEW), and total egg number from AFE to 58 wk of age (total-EN), we recorded the production performance of 2 widely used layer breeds, white leghorn (WL) and Rhode Island Red (RIR) and estimated genetic parameters based on pedigree and production data...
March 8, 2024: Poultry Science
#13
JOURNAL ARTICLE
Rui-Han Liu, Xiang-Yu Xiao, Lei Yao, Yuan-Yuan Jia, Jia Guo, Xing-Chen Wang, Yu Kong, Qing-Xia Kong
Essential tremor (ET) and Parkinson's disease (PD) are common chronic movement disorders that can cause a substantial degree of disability. However, the etiology underlying these two conditions remains poorly understood. In the present study, Whole-exome sequencing of peripheral blood samples from the proband and Sanger sequencing of the other 18 family members, and pedigree analysis of four generations of 29 individuals with both ET and PD in a nonconsanguineous Chinese family were performed. Specifically, family members who had available medical information, including historical documentation and physical examination records, were included...
May 2024: Experimental and Therapeutic Medicine
#14
JOURNAL ARTICLE
Xiaochun Yan, Jinquan Li, Libing He, Oljibilig Chen, Na Wang, Shuai Wang, Xiuyan Wang, Zhiying Wang, Rui Su
The fleece traits are important economic traits of goats. With the reduction of sequencing and genotyping cost and the improvement of related technologies, genomic selection for goats has become possible. The research collect pedigree, phenotype and genotype information of 2299 Inner Mongolia Cashmere goats (IMCGs) individuals. We estimate fixed effects, and compare the estimates of variance components, heritability and genomic predictive ability of fleece traits in IMCGs when using the pedigree based Best Linear Unbiased Prediction (ABLUP), Genomic BLUP (GBLUP) or single-step GBLUP (ssGBLUP)...
April 8, 2024: BMC Genomics
#15
JOURNAL ARTICLE
Christin Schmidtmann, Julius Mugambe, Iulia Blaj, Carsten Harms, Georg Thaller
Up to now, little has been known about backfat thickness (BFT) in dairy cattle. The objective of this study was to investigate the lactation curve and genetic parameters for BFT as well as its relationship with body condition score (BCS) and milk yield (MKG). For this purpose, a dataset was analysed including phenotypic observations of 1929 German Holstein cows for BFT, BCS and MKG recorded on a single research dairy farm between September 2005 and December 2022. Additionally, pedigree and genomic information was available...
April 8, 2024: Journal of Animal Breeding and Genetics
#16
Miguel Guardado, Cynthia Perez, Shalom Jackson, Joaquín Magaña, Sthen Campana, Emily Samperio, Berenice Chavez Rojas, Selena Hernandez, Kaela Syas, Ryan Hernandez, Elena I Zavala, Rori Rohlfs
BACKGROUND: Large-scale family pedigrees are commonly used across medical, evolutionary, and forensic genetics. These pedigrees are tools for identifying genetic disorders, tracking evolutionary patterns, and establishing familial relationships via forensic genetic identification. However, there is a lack of software to accurately simulate different pedigree structures along with genomes corresponding to those individuals in a family pedigree. This limits simulation-based evaluations of methods that use pedigrees...
March 29, 2024: bioRxiv
#17
Julie A Jurgens, Brenda J Barry, Wai-Man Chan, Sarah MacKinnon, Mary C Whitman, Paola M Matos Ruiz, Brandon M Pratt, Eleina M England, Lynn Pais, Gabrielle Lemire, Emily Groopman, Carmen Glaze, Kathryn A Russell, Moriel Singer-Berk, Silvio Alessandro Di Gioia, Arthur S Lee, Caroline Andrews, Sherin Shaaban, Megan M Wirth, Sarah Bekele, Melissa Toffoloni, Victoria R Bradford, Emma E Foster, Lindsay Berube, Cristina Rivera-Quiles, Fiona M Mensching, Alba Sanchis-Juan, Jack M Fu, Isaac Wong, Xuefang Zhao, Michael W Wilson, Ben Weisburd, Monkol Lek, Harrison Brand, Michael E Talkowski, Daniel G MacArthur, Anne O'Donnell-Luria, Caroline D Robson, David G Hunter, Elizabeth C Engle
PURPOSE: To identify genetic etiologies and genotype/phenotype associations for unsolved ocular congenital cranial dysinnervation disorders (oCCDDs). METHODS: We coupled phenotyping with exome or genome sequencing of 467 pedigrees with genetically unsolved oCCDDs, integrating analyses of pedigrees, human and animal model phenotypes, and de novo variants to identify rare candidate single nucleotide variants, insertion/deletions, and structural variants disrupting protein-coding regions...
March 26, 2024: medRxiv
#18
JOURNAL ARTICLE
Carrie S Wilson, J Bret Taylor, Ronald M Lewis, David R Notter
Sheep breeders requested that the U.S. Sheep Experiment Station (USSES) to participate in national genetic evaluation through the National Sheep Improvement Program (NSIP). The reasons included the need for (1) a comparison of the productivity of industry and United States Department of Agriculture (USDA) lines, (2) transparency of USDA flocks, (3) genetic ties for NSIP by sampling of industry flocks, and (4) development of premium genetic lines for public release. In response, USSES began to incorporate external sires from NSIP participating flocks into the USSES Targhee flock...
2024: Translational Animal Science
#19
JOURNAL ARTICLE
Sonia Emperador, Mouna Habbane, Ester López-Gallardo, Alejandro Del Rio, Laura Llobet, Javier Mateo, Ana María Sanz-López, María José Fernández-García, Hortensia Sánchez-Tocino, Sol Benbunan-Ferreiro, María Calabuig-Goena, Carlos Narvaez-Palazón, Beatriz Fernández-Vega, Hector González-Iglesias, Roser Urreizti, Rafael Artuch, David Pacheu-Grau, Pilar Bayona-Bafaluy, Julio Montoya, Eduardo Ruiz-Pesini
BACKGROUND: Most patients suffering from Leber hereditary optic neuropathy carry one of the three classic pathologic mutations, but not all individuals with these genetic alterations develop the disease. There are different risk factors that modify the penetrance of these mutations. The remaining patients carry one of a set of very rare genetic variants and, it appears that, some of the risk factors that modify the penetrance of the classical pathologic mutations may also affect the phenotype of these other rare mutations...
April 6, 2024: Orphanet Journal of Rare Diseases
#20
JOURNAL ARTICLE
Rachel A Carroll, Edward S Rice, William J Murphy, Leslie A Lyons, Francoise Thibaud-Nissen, Lyndon M Coghill, William F Swanson, Karen A Terio, Tyler Boyd, Wesley C Warren
The fishing cat, Prionailurus viverrinus, faces a population decline, increasing the importance of maintaining healthy zoo populations. Unfortunately, zoo-managed individuals currently face a high prevalence of transitional cell carcinoma (TCC), a form of bladder cancer. To investigate the genetics of inherited diseases among captive fishing cats, we present a chromosome-scale assembly, generate the pedigree of the zoo-managed population, reaffirm the close genetic relationship with the Asian leopard cat (Prionailurus bengalensis), and identify 7...
April 5, 2024: Scientific Reports
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