abstract：:Differentiated thyroid cancer (DTC) has one of the lowest cancer mutational burdens, while anaplastic thyroid cancer (ATC) has a much higher mutation frequency. A fraction of ATC has an associated differentiated component, which suggests the coevolution of both cancers. Here, we aimed to compare mutation frequency in ...

journal_title：Journal of applied genetics

authors： Mika J,Łabaj W,Chekan M,Abramowicz A,Pietrowska M,Polański A,Widłak P

更新日期：2021-02-01 00:00:00

abstract：:Arctic char (Salvelinus alpinus) and brook trout (Salvelinus fontinalis) hybridize and their offspring is viable and fertile. This may be a real treat for the native European stocks of Arctic char which gene pools might be unintendedly contaminated with the genetic elements of brook trout. On the other hand, hybrids o...

journal_title：Journal of applied genetics

authors： Pomianowski K,Ocalewicz K

更新日期：2021-02-01 00:00:00

abstract：:Group-1 homoelog genes in wheat genomes encode storage proteins and are the major determinants of wheat product properties. Consequently, understanding the genetic diversity of group-1 homoelogs and genes encoding storage proteins, especially the low-molecular-weight glutenins (LMW-GSs), within wheat landrace genomes ...

journal_title：Journal of applied genetics

authors： Hu X,Dai S,Yan Y,Liu Y,Zhang J,Lu Z,Wei Y,Zheng Y,Cong H,Yan Z

更新日期：2020-09-01 00:00:00

abstract：:Recently, leaf rust and yellow rust caused by the fungi Puccinia triticina Erikss. and P. striiformis Westend f. sp. tritici Eriks and Henn are diseases of increasing threat in triticale (× Triticosecale Wittmack, AABBRR, 2n = 6x = 42) growing areas. The use of genetic resistance is considered the most economical, eff...

journal_title：Journal of applied genetics

authors： Skowrońska R,Tomkowiak A,Nawracała J,Kwiatek MT

更新日期：2020-09-01 00:00:00

abstract：:The type-B authentic response regulators (ARR-Bs) function as positive regulators of cytokinin signal transduction and play important roles in abiotic stress resistance and plant development. However, little of ARR-B family is known in tomato. In this study, we performed a comprehensive analysis of ARR-B family factor...

journal_title：Journal of applied genetics

authors： Wang J,Xia J,Song Q,Liao X,Gao Y,Zheng F,Yang C

更新日期：2020-09-01 00:00:00

abstract：:Philomycus bilineatus is a highly common gastropod mollusk pest in China and is also utilized to treat infectious diseases. However, no genomic resources are available for this non-model species. In the present study, the transcriptomic analysis of P. bilineatus was completed. After sequencing using the next generatio...

journal_title：Journal of applied genetics

authors： Li Z,Yuan Y,Meng M,Hu P,Wang Y

更新日期：2020-09-01 00:00:00

abstract：:Hereditary hearing loss (HHL) is a neurosensory disorder that affects every 1/500 newborns worldwide and nearly 1/3 people over the age of 65. Congenital deafness is inherited as monogenetic or polygenic disorder. The delicacy, tissue heterogeneity, deep location of the inner ear down the brainstem, and minute quantit...

journal_title：Journal of applied genetics

authors： Farooq R,Hussain K,Tariq M,Farooq A,Mustafa M

更新日期：2020-02-01 00:00:00

abstract：:The Npc1nih/nih-null model and the Npc1nmf164/nmf164 hypomorph models of Niemann-Pick C1 (NPC1) disease show defects in olfaction. We have tested the effects of the life-prolonging treatment hydroxypropyl-beta-cyclodextrin (HPBCD) on olfaction and neural stem cell numbers when delivered either systemically or by nasal...

journal_title：Journal of applied genetics

authors： Dragotto J,Palladino G,Canterini S,Caporali P,Patil R,Fiorenza MT,Erickson RP

更新日期：2019-11-01 00:00:00

abstract：:Autosomal recessive primary microcephaly (MCPH) is a group of rare neurodevelopmental diseases with severe microcephaly at birth. One type of the disorder, MCPH2, is caused by biallelic mutations in the WDR62 gene, which encodes the WD repeat-containing protein 62. Patients with WDR62 mutation may have a wide range of...

journal_title：Journal of applied genetics

authors： Zombor M,Kalmár T,Nagy N,Berényi M,Telcs B,Maróti Z,Brandau O,Sztriha L

更新日期：2019-05-01 00:00:00

abstract：:Autism spectrum disorder (ASD) is a set of neurodevelopmental conditions characterized by early-onset difficulties in social communication and unusually restricted, repetitive behavior and interests. Parental consanguinity may lead to higher risk of ASD and to more severe clinical presentations in the offspring. Studi...

journal_title：Journal of applied genetics

authors： Lahbib S,Leblond CS,Hamza M,Regnault B,Lemée L,Mathieu A,Jaouadi H,Mkaouar R,Youssef-Turki IB,Belhadj A,Kraoua I,Bourgeron T,Abdelhak S

更新日期：2019-02-01 00:00:00

abstract：:Chicken body weight (BW) is an economically important trait, and many studies have been conducted on genetic selection for BW. However, previous studies have detected functional chromosome mutations or regions using gene chips. The present study used the specific-locus amplified fragment sequencing (SLAF-seq) technolo...

journal_title：Journal of applied genetics

authors： Li F,Han H,Lei Q,Gao J,Liu J,Liu W,Zhou Y,Li H,Cao D

更新日期：2018-08-01 00:00:00

abstract：:Precise pre-mRNA splicing, essential for appropriate protein translation, depends on the presence of consensus "cis" sequences that define exon-intron boundaries and regulatory sequences recognized by splicing machinery. Point mutations at these consensus sequences can cause improper exon and intron recognition and ma...

journal_title：Journal of applied genetics

authors： Anna A,Monika G

更新日期：2018-08-01 00:00:00

abstract：:Oil palm (Elaeis guineensis Jacq.) is an outbreeding perennial tree crop with long breeding cycles, typically 12 years. Molecular marker technologies can greatly improve the breeding efficiency of oil palm. This study reports the first use of the DArTseq platform to genotype two closely related self-pollinated oil pal...

journal_title：Journal of applied genetics

authors： Gan ST,Wong WC,Wong CK,Soh AC,Kilian A,Low EL,Massawe F,Mayes S

更新日期：2018-02-01 00:00:00

abstract：:Pre-harvest sprouting (PHS) and seed longevity (SL) are complex biological processes of major importance for agricultural production. In the present study, a recombinant inbred line (RIL) population derived from a cross between the German winter wheat (Triticum aestivum L.) cultivars History and Rubens was used to ide...

journal_title：Journal of applied genetics

authors： Börner A,Nagel M,Agacka-Mołdoch M,Gierke PU,Oberforster M,Albrecht T,Mohler V

更新日期：2018-02-01 00:00:00

abstract：:Proper epigenetic regulation processes are crucial in the normal development of the human brain. An ever-increasing group of neurodevelopmental disorders due to derangements of epigenetic regulation involve both microdeletion and monogenic syndromes. Some of these syndromes have overlapping clinical phenotypes due to ...

journal_title：Journal of applied genetics

authors： Tumiene B,Čiuladaitė Ž,Preikšaitienė E,Mameniškienė R,Utkus A,Kučinskas V

更新日期：2017-11-01 00:00:00

abstract：:Quantitative genetic analysis was performed on 10,919 data records collected over three generations from the selection programme for increased body weight at harvest in red tilapia (Oreochromis spp.). They were offspring of 224 sires and 226 dams (50 sires and 60 dams per generation, on average). Linear mixed models w...

journal_title：Journal of applied genetics

authors： Hamzah A,Thoa NP,Nguyen NH

更新日期：2017-11-01 00:00:00

abstract：:The antibiotic doxycycline is used as an inducer of recombinase (cre)-based conditional gene knockout in mice, which is a common tool to show the effect of disrupted gene functions only in one period of a research animal's life. However, other types of such antibiotics have been shown to have a strong impact on the im...

journal_title：Journal of applied genetics

authors： Hansen AK,Malm SA,Metzdorff SB

更新日期：2017-11-01 00:00:00

abstract：:Candida sp. have been responsible for an increasing number of infections, especially in patients with immunodeficiency. Species-specific differentiation of Candida sp. is difficult in routine diagnosis. This identification can have a highly significant association in therapy and prophylaxis. This work has shown a new ...

journal_title：Journal of applied genetics

authors： Szemiako K,Śledzińska A,Krawczyk B

更新日期：2017-08-01 00:00:00

abstract：:Idiopathic infantile hypercalcemia (IIH) is a mineral metabolism disorder characterized by severe hypercalcemia, failure to thrive, vomiting, dehydration, and nephrocalcinosis. The periodical increase in incidence of IIH, which occurred in the twentieth century in the United Kingdom, Poland, and West Germany, turned o...

journal_title：Journal of applied genetics

authors： Pronicka E,Ciara E,Halat P,Janiec A,Wójcik M,Rowińska E,Rokicki D,Płudowski P,Wojciechowska E,Wierzbicka A,Książyk JB,Jacoszek A,Konrad M,Schlingmann KP,Litwin M

更新日期：2017-08-01 00:00:00

abstract：:Investigations on the impact of chemicals on the environment and human health have led to the development of an exposome concept. The exposome refers to the totality of exposures received by a person during life, including exposures to life-style factors, from the prenatal period to death. The exposure to genotoxic ch...

journal_title：Journal of applied genetics

authors： Ewa B,Danuta MŠ

更新日期：2017-08-01 00:00:00

abstract：:Tumour necrosis factor alpha (TNF-α) is one kind of cytokines which is related to inflammation and lipid metabolism. TNF-α cDNA was cloned from the liver of blunt snout bream (Megalobrama amblycephala) through real-time polymerase chain reaction (PCR) and rapid amplification of cDNA ends (RACE) methods. The full-lengt...

journal_title：Journal of applied genetics

authors： Zhou M,Mi HF,Liu WB,Wu YY,Wang KZ,Jiang GZ

更新日期：2017-08-01 00:00:00

abstract：:The number of functional teats is an important selection criterion in pig breeding. Inherited defects of the udder, such as the inverted teat, do have a considerable negative impact on the nursing ability of the sow. To investigate the genetic background of this defect and the number of functional teats in Swedish mat...

journal_title：Journal of applied genetics

authors： Chalkias H,Jonas E,Andersson LS,Jacobson M,de Koning DJ,Lundeheim N,Lindgren G

更新日期：2017-05-01 00:00:00

abstract：:To date, only two splice-site mutations within the TPM2 gene have been shown to be causative for congenital myopathies. While the majority of TPM2 gene mutations are causative for nemaline myopathy, cap disease or distal arthrogryposis, some mutations in this gene have been found to be associated with non-specific con...

journal_title：Journal of applied genetics

authors： Mroczek M,Kabzińska D,Chrzanowska KH,Pronicki M,Kochański A

更新日期：2017-05-01 00:00:00

abstract：:Phenylketonuria (PKU) is a metabolic disease caused by mutations in the phenylalanine hydroxylase (PAH) gene. Although the PAH genotype remains the main determinant of PKU phenotype severity, genotype-phenotype inconsistencies have been reported. In this study, we focused on unanalysed sequences in non-coding PAH gene...

journal_title：Journal of applied genetics

authors： Klaassen K,Stankovic B,Kotur N,Djordjevic M,Zukic B,Nikcevic G,Ugrin M,Spasovski V,Srzentic S,Pavlovic S,Stojiljkovic M

更新日期：2017-02-01 00:00:00

abstract：:The quality of wheat depends on a large complex of genes and environmental factors. The objective of this study was to identify quantitative trait loci controlling technological quality traits and their stability across environments, and to assess the impact of interaction between alleles at loci Glu-1 and Glu-3 on gr...

journal_title：Journal of applied genetics

authors： Krystkowiak K,Langner M,Adamski T,Salmanowicz BP,Kaczmarek Z,Krajewski P,Surma M

更新日期：2017-02-01 00:00:00

abstract：:Laminopathies, a group of heterogeneous disorders associated with lamin A/C gene (LMNA) mutations, encompass a wide spectrum of clinical phenotypes, which may present as separate disease or as overlapping syndromes. We describe a 35-year-old female in whom a novel sporadic heterozygous mutation c.1001_1003delGCC (p.Se...

journal_title：Journal of applied genetics

authors： Madej-Pilarczyk A,Niezgoda A,Janus M,Wojnicz R,Marchel M,Fidziańska A,Grajek S,Hausmanowa-Petrusewicz I

更新日期：2017-02-01 00:00:00

abstract：:Wild relatives, landraces and cultivars from different geographical regions have been demonstrated as the sources of genetic variation for resistance to rust diseases. This study involved assessment of diversity for resistance to three rust diseases among a set of Nordic spring wheat cultivars. These cultivars were te...

journal_title：Journal of applied genetics

authors： Randhawa M,Bansal U,Lillemo M,Miah H,Bariana H

更新日期：2016-11-01 00:00:00

abstract：:We describe a 19-month-old male presenting with right stenotic megaureter, anemia and thrombocytopenia, cardiac and ophthalmologic abnormalities. Analysis with array-based comparative genomic hybridization (aCGH) revealed an interstitial deletion of about 2.4 Mb of chromosome 11q24.2q24.3. We compared the phenotype of...

journal_title：Journal of applied genetics

authors： Tassano E,Janis S,Canepa A,Zanotto E,Torello C,Gimelli G,Cuoco C

更新日期：2016-08-01 00:00:00

abstract：:The role of genetic background in childhood-onset combined pituitary hormone deficiency (CPHD) has been extensively studied. The major contributors are the PROP1, POU1F1, LHX3, LHX4 and HESX1 genes coding transcription factors implicated in pituitary organogenesis. The clinical consequences of mutations encompass impa...

journal_title：Journal of applied genetics

authors： Ziemnicka K,Budny B,Drobnik K,Baszko-Błaszyk D,Stajgis M,Katulska K,Waśko R,Wrotkowska E,Słomski R,Ruchała M

更新日期：2016-08-01 00:00:00

abstract：:Rapid growth in broilers is associated with susceptibility to metabolic disorders such as pulmonary hypertension syndrome (ascites) and sudden death. This study describes a genome search for QTL associated with relative weight of cardio respiratory and metabolically important organs (heart, lungs, liver and gizzard), ...

journal_title：Journal of applied genetics

authors： Moura AS,Ledur MC,Boschiero C,Nones K,Pinto LF,Jaenisch FR,Burt DW,Coutinho LL

更新日期：2016-05-01 00:00:00

abstract：:Nearly all bacterial species, including pathogens, have the ability to form biofilms. Biofilms are defined as structured ecosystems in which microbes are attached to surfaces and embedded in a matrix composed of polysaccharides, eDNA, and proteins, and their development is a multistep process. Bacterial biofilms const...

journal_title：Journal of applied genetics

authors： Wolska KI,Grudniak AM,Rudnicka Z,Markowska K

更新日期：2016-05-01 00:00:00

abstract：:Establishing translocated populations is a common process to preserve and maintain genetic diversity of threatened species. In 2001, three translocated populations of noble crayfish (Astacus astacus) were established in the Czech Republic, founded by either adult or juvenile individuals from three particular source po...

journal_title：Journal of applied genetics

authors： Bláha M,Žurovcová M,Kouba A,Policar T,Kozák P

更新日期：2016-02-01 00:00:00

abstract：:RNA/DNA hybrid duplexes regularly occur in nature, for example in transcriptional R loops. Their susceptibility to modification by DNA-specific or RNA-specific enzymes is, thus, a biologically relevant question, which, in addition, has possible biotechnological implications. In this study, we investigated the activity...

journal_title：Journal of applied genetics

authors： Wons E,Mruk I,Kaczorowski T

更新日期：2015-11-01 00:00:00

abstract：:Streptomyces ghanaensis ATCC14672 is the producer of phosphoglycolipid antibiotics moenomycins that for almost 40 years were used worldwide as an animal feed additive. As the use of moenomycins narrows down (due to bans in the EU and some other countries), it opens the opportunity to develop much-needed antibiotics ag...

journal_title：Journal of applied genetics

authors： Lopatniuk M,Ostash B,Makitrynskyy R,Walker S,Luzhetskyy A,Fedorenko V

更新日期：2015-11-01 00:00:00

abstract：:The introduction of non-native crayfish in aquatic ecosystems is very common due to human activities (e.g. aquaculture, recreational and commercial fisheries). The signal crayfish, Pacifastacus leniusculus (Dana, 1852), is one of the most widespread invasive species in Europe. Although several important ecological and...

journal_title：Journal of applied genetics

authors： Froufe E,Varandas S,Teixeira A,Sousa R,Filipová L,Petrusek A,Edsman L,Lopes-Lima M

更新日期：2015-08-01 00:00:00

abstract：:The ErbB signalling network plays a crucial role in the growth and progression of several cancers, including colorectal cancer (CRC), and includes potentially drug-targetable genes. Oncogenic activation of the ErbB pathway by mutations and focal amplifications have emerged recently as an important predictive marker of...

journal_title：Journal of applied genetics

authors： Szmida E,Karpiński P,Leszczynski P,Sedziak T,Kielan W,Ostasiewicz P,Sasiadek MM

更新日期：2015-05-01 00:00:00

abstract：:Pigs as a source of grafts for xenotransplantation can help to overcome the rapidly growing shortage of human donors. However, in the case of pig-to-human transplantation, the antibody-xenoantigen complexes lead to the complement activation and immediate hyperacute rejection. Methods eliminating hyperacute rejection (...

journal_title：Journal of applied genetics

authors： Zeyland J,Lipiński D,Słomski R

更新日期：2015-05-01 00:00:00

abstract：:In this study we have developed protocols for induced triploidy and gynogenesis of Senegalese sole (Solea senegalensis), a promising flatfish species for marine aquaculture, in order to: 1) identify the sex-determination mechanism; and 2) to improve its production by generating a) sterile fish, avoiding problems relat...

journal_title：Journal of applied genetics

authors： Molina-Luzón MJ,López JR,Robles F,Navajas-Pérez R,Ruiz-Rejón C,De la Herrán R,Navas JI

更新日期：2015-02-01 00:00:00

abstract：:In addition to their normal developmental processes, plants have evolved complex genetic and epigenetic regulatory mechanisms to cope with various environmental stresses. It has been shown that both DNA methylation and histone modifications are involved in DNA damage response to various types of stresses. In this stud...

journal_title：Journal of applied genetics

authors： Braszewska-Zalewska A,Tylikowska M,Kwasniewska J,Szymanowska-Pulka J

更新日期：2014-11-01 00:00:00

abstract：:Hybrids derived from wheat (Triticum aestivum L.) × rye (Secale cereale L.) have been widely studied because of their important roles in wheat cultivar improvement. Repetitive sequences pAs1, pSc119.2, pTa-535, pTa71, CCS1, and pAWRC.1 are usually used as probes in fluorescence in situ hybridization (FISH) analysis of...

journal_title：Journal of applied genetics

authors： Tang Z,Yang Z,Fu S

更新日期：2014-08-01 00:00:00