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| Open AccessAn exonic insertion in the NAGLU gene causing Mucopolysaccharidosis IIIB in Schipperke dogs
- Karthik Raj
- , N. Matthew Ellinwood
- & Urs Giger
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| Open AccessAssociation of a new 99-bp indel of the CEL gene promoter region with phenotypic traits in chickens
- Xiangnan Wang
- , Xinlei Wang
- & Ruili Han
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| Open AccessThe spatio-temporal features of chicken mitochondrial ND2 gene heteroplasmy and the effects of nutrition factors on this gene
- Suliang Yang
- , Yangyang Huo
- & Yanqun Huang
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| Open AccessInvestigation of DNA variants specific to ROBO2 Isoform ‘a’ in Irish vesicoureteric reflux patients reveals marked CpG island variation
- John M. Darlow
- , Mark G. Dobson
- & David E. Barton
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| Open AccessIn vivo analysis of FANCD2 recruitment at meiotic DNA breaks in Caenorhabditis elegans
- Marcello Germoglio
- , Anna Valenti
- & Adele Adamo
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| Open AccessPharmacogenomics of poor drug metabolism in Greyhounds: Cytochrome P450 (CYP) 2B11 genetic variation, breed distribution, and functional characterization
- Stephanie E. Martinez
- , Marie C. Andresen
- & Michael H. Court
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| Open AccessAssisted reproduction mediated resurrection of a feline model for Chediak-Higashi syndrome caused by a large duplication in LYST
- R. M. Buckley
- , R. A. Grahn
- & L. A. Lyons
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| Open AccessA de novo EGR2 variant, c.1232A > G p.Asp411Gly, causes severe early-onset Charcot-Marie-Tooth Neuropathy Type 3 (Dejerine-Sottas Neuropathy)
- Bianca R. Grosz
- , Natasha B. Golovchenko
- & Marina L. Kennerson
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| Open AccessThe expression pattern of OsDim1 in rice and its proposed function
- Henry Akrofi Doku
- , Shu-Xian Gan
- & Dong-Sun Lee
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| Open AccessCharacterization of GUCA1A-associated dominant cone/cone-rod dystrophy: low prevalence among Japanese patients with inherited retinal dystrophies
- Kei Mizobuchi
- , Takaaki Hayashi
- & Tadashi Nakano
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| Open AccessImproved Cas9 activity by specific modifications of the tracrRNA
- Tristan Scott
- , Ryan Urak
- & Kevin V. Morris
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| Open AccessA large intragenic deletion in the CLCN1 gene causes Hereditary Myotonia in pigs
- C. E. T. Araújo
- , C. M. C. Oliveira
- & A. S. Borges
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| Open AccessFunctional analysis of new human Bardet-Biedl syndrome loci specific variants in the zebrafish model
- Sheila Castro-Sánchez
- , Paula Suarez-Bregua
- & Diana Valverde
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| Open AccessAutosomal Dominant Tubulointerstitial Kidney Disease with Adult Onset due to a Novel Renin Mutation Mapping in the Mature Protein
- Céline Schaeffer
- , Claudia Izzi
- & Luca Rampoldi
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| Open AccessSharing of heteroplasmies between human liver lobes varies across the mtDNA genome
- Alexander Hübner
- , Manja Wachsmuth
- & Mark Stoneking
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| Open AccessIdentification and Characterization of Genetic Determinants of Isoniazid and Rifampicin Resistance in Mycobacterium tuberculosis in Southern India
- Asma Munir
- , Narender Kumar
- & Sony Malhotra
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| Open AccessBioactive Thymosin Alpha-1 Does Not Influence F508del-CFTR Maturation and Activity
- Andrea Armirotti
- , Valeria Tomati
- & Nicoletta Pedemonte
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| Open AccessCalcyphosine-like (CAPSL) is regulated in Multiple Symmetric Lipomatosis and is involved in Adipogenesis
- Angie Lindner
- , Felix Marbach
- & Julia Schreml
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| Open AccessVitamin D Receptor gene polymorphisms and plasma levels are associated with lumbar disc degeneration
- Qinghua Yang
- , Yang Liu
- & Qingjun Wei
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| Open AccessAssociation between IL-37 gene polymorphisms and risk of HBV-related liver disease in a Saudi Arabian population
- Mashael R. Al-Anazi
- , Sabine Matou-Nasri
- & Ahmed A. Al-Qahtani
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| Open AccessDeveloping a blood-based gene mutation assay as a novel biomarker for oesophageal adenocarcinoma
- Hasan N. Haboubi
- , Rachel L. Lawrence
- & Gareth J. Jenkins
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| Open AccessGenome analysis identifies the mutant genes for common industrial Silverblue and Hedlund white coat colours in American mink
- Andrey D. Manakhov
- , Tatiana V. Andreeva
- & Evgeny I. Rogaev
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| Open AccessElucidation of the unique mutation spectrum of severe hearing loss in a Vietnamese pediatric population
- Jae Joon Han
- , Pham Dinh Nguyen
- & Byung Yoon Choi
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| Open AccessGenome reorganization of the GmSHMT gene family in soybean showed a lack of functional redundancy in resistance to soybean cyst nematode
- Naoufal Lakhssassi
- , Gunvant Patil
- & Khalid Meksem
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| Open AccessMultisite de novo mutations in human offspring after paternal exposure to ionizing radiation
- Manuel Holtgrewe
- , Alexej Knaus
- & Peter Michael Krawitz
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| Open AccessAn African loss-of-function CACNA1C variant p.T1787M associated with a risk of ventricular fibrillation
- Malorie Blancard
- , Amal Debbiche
- & Jean-Sébastien Rougier
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| Open AccessCharacterization of lasR-deficient clinical isolates of Pseudomonas aeruginosa
- Yao Wang
- , Leiqiong Gao
- & Ziyu Hua
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| Open AccessLoss-of-function mutations of SCN10A encoding NaV1.8 α subunit of voltage-gated sodium channel in patients with human kidney stone disease
- Choochai Nettuwakul
- , Oranud Praditsap
- & Pa-thai Yenchitsomanus
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| Open AccessKeratinocyte differentiation induces APOBEC3A, 3B, and mitochondrial DNA hypermutation
- Kousho Wakae
- , Tomoaki Nishiyama
- & Masamichi Muramatsu
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| Open AccessThe association between TNFR gene polymorphisms and the risk of Hepatitis B Virus-Related Liver Diseases in Chinese population
- Liping Ma
- , Siyuan Chen
- & Shan Li
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| Open AccessComprehensive analysis of CTNNB1 in adrenocortical carcinomas: Identification of novel mutations and correlation to survival
- Rajani Maharjan
- , Samuel Backman
- & Peyman Björklund
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| Open AccessBrain APOE expression quantitative trait loci-based association study identified one susceptibility locus for Alzheimer’s disease by interacting with APOE ε4
- Aiqian Zhang
- , Qingnan Zhao
- & Shan Jiang
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| Open AccessA Drosophila Model of Essential Tremor
- Philip Smith
- , Ronald Arias
- & Lorraine N. Clark
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| Open AccessCentral role of the proximal tubular αKlotho/FGF receptor complex in FGF23-regulated phosphate and vitamin D metabolism
- Ai Takeshita
- , Kazuki Kawakami
- & Kazushige Sakaguchi
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| Open AccessThe evolutionarily conserved genes: Tex37, Ccdc73, Prss55 and Nxt2 are dispensable for fertility in mice
- Manan Khan
- , Nazish Jabeen
- & Qinghua Shi
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| Open AccessLoss and gain of N-linked glycosylation sequons due to single-nucleotide variation in cancer
- Yu Fan
- , Yu Hu
- & Hayley M. Dingerdissen
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| Open AccessDuck plague virus Glycoprotein J is functional but slightly impaired in viral replication and cell-to-cell spread
- Yu You
- , Tian Liu
- & Ling Zhang
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| Open AccessA genetic variant in SLC30A2 causes breast dysfunction during lactation by inducing ER stress, oxidative stress and epithelial barrier defects
- Sooyeon Lee
- , Yandong Zhou
- & Shannon L. Kelleher
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| Open AccessA missense mutation in TRAPPC6A leads to build-up of the protein, in patients with a neurodevelopmental syndrome and dysmorphic features
- Hussein Sheikh Mohamoud
- , Saleem Ahmed
- & Jamal Nasir
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| Open AccessAtypical changes in DRG neuron excitability and complex pain phenotype associated with a Nav1.7 mutation that massively hyperpolarizes activation
- Jianying Huang
- , Malgorzata A. Mis
- & Stephen G. Waxman
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| Open AccessIsolation and characterization of novel mutations in the pSC101 origin that increase copy number
- Mitchell G. Thompson
- , Nima Sedaghatian
- & Jay D. Keasling
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| Open AccessPhysiological status of plant tissue affects the frequency and types of mutations induced by carbon-ion irradiation in Arabidopsis
- Yoshihiro Hase
- , Katsuya Satoh
- & Yutaka Oono
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| Open AccessAnalysis of mitochondrial function in human induced pluripotent stem cells from patients with mitochondrial diabetes due to the A3243G mutation
- Masaki Matsubara
- , Hajime Kanda
- & Kazuwa Nakao
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| Open AccessSertraline, Paroxetine, and Chlorpromazine Are Rapidly Acting Anthelmintic Drugs Capable of Clinical Repurposing
- Janis C. Weeks
- , William M. Roberts
- & Nicole F. Liachko
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| Open AccessRepair of the TGFBI gene in human corneal keratocytes derived from a granular corneal dystrophy patient via CRISPR/Cas9-induced homology-directed repair
- Yukako Taketani
- , Kohdai Kitamoto
- & Yasuo Ouchi
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| Open AccessATP1A3 mutations can cause progressive auditory neuropathy: a new gene of auditory synaptopathy
- Kyu-Hee Han
- , Doo-Yi Oh
- & Byung Yoon Choi
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| Open AccessRNA metabolism is the primary target of formamide in vivo
- Rafael Hoyos-Manchado
- , Félix Reyes-Martín
- & Víctor A. Tallada
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| Open AccessIdentification and in vitro characterization of two new PCSK9 Gain of Function variants found in patients with Familial Hypercholesterolemia
- Maria Donata Di Taranto
- , Asier Benito-Vicente
- & Giuliana Fortunato
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| Open AccessPotential damaging mutation in LRP5 from genome sequencing of the first reported chimpanzee with the Chiari malformation
- Manuel Solis-Moruno
- , Marc de Manuel
- & Tomas Marques-Bonet