Biomedical publications with connected research

Differences in adiposity in Cushing syndrome caused by PRKAR1A mutations: clues for the role of cyclic AMP signaling in obesity and diagnostic implications.

The Journal of clinical endocrinology and metabolism | 2014-02-01 | PMID 24248186

London Edra, Rothenbuhler Anya, Lodish Maya and 7 more

The increase in thyroid cancer incidence during the last four decades is accompanied by a high frequency of BRAF mutations and a sharp increase in RAS mutations.

The Journal of clinical endocrinology and metabolism | 2014-02-01 | PMID 24248188

Jung Chan Kwon, Little Mark P, Lubin Jay H and 4 more

Genes: BRAF, RET

Prevalence and genotype distribution of human papillomavirus infection in Harbin, Northeast China.

Archives of virology | 2014-05-01 | PMID 24248257

Sun Bowen, He Junming, Chen Xiaohang and 6 more

Plasminogen activator inhibitor-1 influences cerebrovascular complications and death in pneumococcal meningitis.

Acta neuropathologica | 2014-04-01 | PMID 24248324

Brouwer Matthijs C, Meijers Joost C M, Baas Frank and 5 more

Genes: SERPINE1

Nuclear import of APOBEC3F-labeled HIV-1 preintegration complexes.

Proceedings of the National Academy of Sciences of the United States of America | 2013-12-03 | PMID 24248339

Burdick Ryan C, Hu Wei-Shau, Pathak Vinay K

Genes: TNPO3

Enhanced in vivo fitness of carbapenem-resistant oprD mutants of Pseudomonas aeruginosa revealed through high-throughput sequencing.

Proceedings of the National Academy of Sciences of the United States of America | 2013-12-17 | PMID 24248354

Skurnik David, Roux Damien, Cattoir Vincent and 13 more

Genetic interplay between HLA-C and MIR148A in HIV control and Crohn disease.

Proceedings of the National Academy of Sciences of the United States of America | 2013-12-17 | PMID 24248364

Kulkarni Smita, Qi Ying, O'hUigin Colm and 18 more

Spatiotemporal dynamics of gene flow and hybrid fitness between the M and S forms of the malaria mosquito, Anopheles gambiae.

Proceedings of the National Academy of Sciences of the United States of America | 2013-12-03 | PMID 24248386

Lee Yoosook, Marsden Clare D, Norris Laura C and 5 more

Distribution, evolution, and diversity of retrotransposons at the flamenco locus reflect the regulatory properties of piRNA clusters.

Proceedings of the National Academy of Sciences of the United States of America | 2013-12-03 | PMID 24248389

Zanni Vanessa, Eymery Angéline, Coiffet Michael and 5 more

The unique surface molecules on intestinal intraepithelial lymphocytes: from tethering to recognizing.

Digestive diseases and sciences | 2014-03-01 | PMID 24248415

Qiu Yuan, Yang Yang, Yang Hua

Tissue-specific alterations in thyroid hormone homeostasis in combined Mct10 and Mct8 deficiency.

Endocrinology | 2014-01-01 | PMID 24248460

Müller Julia, Mayerl Steffen, Visser Theo J and 6 more

Genes: TRH

Evidence for modest familial co-aggregation between dementia and parkinsonism.

European journal of epidemiology | 2014-01-01 | PMID 24248476

Feldman Adina L, Wirdefeldt Karin, Johansson Anna L V and 2 more

Gain of function of mutant TP53 in glioblastoma: prognosis and response to temozolomide.

Annals of surgical oncology | 2014-04-01 | PMID 24248532

Wang Xiang, Chen Jin-Xiu, Liu Jin-Ping and 3 more

Genes: MGMT

Lack of association between vitamin D receptor gene BsmI polymorphism and breast cancer risk: an updated meta-analysis involving 23,020 subjects.

Tumour biology : the journal of the International Society for Oncodevelopmental Biology and Medicine | 2014-03-01 | PMID 24248540

Du Yingying, Hu Lixia, Kong Fanliang and 1 more

Genes: VDR

Fibroblast growth factor receptor 4 polymorphism is associated with increased risk and poor prognosis of non-Hodgkin's lymphoma.

Tumour biology : the journal of the International Society for Oncodevelopmental Biology and Medicine | 2014-04-01 | PMID 24248544

Gao Lei, Feng Zhenjun, Li Qiang and 3 more

Genes: FGFR4

Quantitative assessment of the association between three polymorphisms in FAS and FASL gene and breast cancer risk.

Tumour biology : the journal of the International Society for Oncodevelopmental Biology and Medicine | 2014-04-01 | PMID 24248546

Wang Zexing, Gu Jun, Nie Weiwei and 3 more

Genes: FAS

Gly82Ser polymorphism of the receptor for advanced glycation end-product (RAGE) potential high risk in patients with colorectal cancer.

Tumour biology : the journal of the International Society for Oncodevelopmental Biology and Medicine | 2014-04-01 | PMID 24248547

Qian Fei, Sun Bao-lan, Zhang Wen-yi and 2 more

Structure of an SspH1-PKN1 complex reveals the basis for host substrate recognition and mechanism of activation for a bacterial E3 ubiquitin ligase.

Molecular and cellular biology | 2014-02-01 | PMID 24248594

Keszei Alexander F A, Tang Xiaojing, McCormick Craig and 4 more

Genes: PKN1

A highly conserved region within H2B is important for FACT to act on nucleosomes.

Molecular and cellular biology | 2014-02-01 | PMID 24248595

Zheng Suting, Crickard J Brooks, Srikanth Abhinaya and 1 more

Interferon regulatory factor 8 modulates phenotypic switching of smooth muscle cells by regulating the activity of myocardin.

Molecular and cellular biology | 2014-02-01 | PMID 24248596

Zhang Shu-Min, Gao Lu, Zhang Xiao-Fei and 9 more

Genes: SRF

Regulation of Ras localization and cell transformation by evolutionarily conserved palmitoyltransferases.

Molecular and cellular biology | 2014-02-01 | PMID 24248599

Young Evelin, Zheng Ze-Yi, Wilkins Angela D and 4 more

Genes: ZDHHC9

p53 tumor suppressor protein stability and transcriptional activity are targeted by Kaposi's sarcoma-associated herpesvirus-encoded viral interferon regulatory factor 3.

Molecular and cellular biology | 2014-02-01 | PMID 24248600

Baresova Petra, Musilova Jana, Pitha Paula M and 1 more

Mitotic phosphorylation of eukaryotic initiation factor 4G1 (eIF4G1) at Ser1232 by Cdk1:cyclin B inhibits eIF4A helicase complex binding with RNA.

Molecular and cellular biology | 2014-02-01 | PMID 24248602

Dobrikov Mikhail I, Shveygert Mayya, Brown Michael C and 1 more

Role of Ca2+/calmodulin-dependent kinase II-IRAK1 interaction in LMP1-induced NF-κB activation.

Molecular and cellular biology | 2014-02-01 | PMID 24248603

Kim Jung-Eun, Kim Sang Yong, Lim Sue Yeon and 2 more

Genes: IRAK1

The evolution of HIV-1 group M genetic variability in Southern Cameroon is characterized by several emerging recombinant forms of CRF02_AG and viruses with drug resistance mutations.

Journal of medical virology | 2014-03-01 | PMID 24248638

Agyingi Lucy, Mayr Luzia M, Kinge Thompson and 6 more

High-fertility phenotypes: two outbred mouse models exhibit substantially different molecular and physiological strategies warranting improved fertility.

Reproduction (Cambridge, England) | 2014-01-01 | PMID 24248751

Langhammer Martina, Michaelis Marten, Hoeflich Andreas and 3 more

Clinical and analytical relevance of NNRTIs minority mutations on viral failure in HIV-1 infected patients.

Journal of medical virology | 2014-03-01 | PMID 24248806

Mohamed Sofiane, Ravet Sophie, Camus Claire and 3 more

Association and differentiation of MHC class I and II polymorphic Alu insertions and HLA-A, -B, -C and -DRB1 alleles in the Chinese Han population.

Molecular genetics and genomics : MGG | 2014-02-01 | PMID 24248811

Shi Lei, Kulski J K, Zhang Hua and 6 more

Identification of new genetic susceptibility loci for breast cancer through consideration of gene-environment interactions.

Genetic epidemiology | 2014-01-01 | PMID 24248812

Schoeps Anja, Rudolph Anja, Seibold Petra and 78 more

Intact expression status of RASSF1A in acute myeloid leukemia.

Medical oncology (Northwood, London, England) | 2014-01-01 | PMID 24248815

Zare-Abdollahi Davood, Safari Shamsi, Movafagh Abolfazl and 3 more

Prognostic value of epidermal growth factor receptor mutations in resected lung adenocarcinomas.

Medical oncology (Northwood, London, England) | 2014-01-01 | PMID 24248816

Liu Wei-Shuai, Zhao Lu-Jun, Pang Qing-Song and 3 more

Genes: EGFR

Photofunctionalization increases the bioactivity and osteoconductivity of the titanium alloy Ti6Al4V.

Journal of biomedical materials research. Part A | 2014-10-01 | PMID 24248891

Minamikawa Hajime, Ikeda Takayuki, Att Wael and 6 more

Robust rare variant association testing for quantitative traits in samples with related individuals.

Genetic epidemiology | 2014-01-01 | PMID 24248908

Jiang Duo, McPeek Mary Sara

Does frequency-dependence determine male morph survival in the bulb mite Rhizoglyphus robini?

Experimental & applied acarology | 2014-04-01 | PMID 24248909

Deere Jacques A, Smallegange Isabel M

Alzheimer's as a metabolic disease.

Biogerontology | 2013-12-01 | PMID 24249045

Demetrius Lloyd A, Driver Jane

Cardiac structure and function in heart failure with preserved ejection fraction: baseline findings from the echocardiographic study of the Treatment of Preserved Cardiac Function Heart Failure with an Aldosterone Antagonist trial.

Circulation. Heart failure | 2014-01-01 | PMID 24249049

Shah Amil M, Shah Sanjiv J, Anand Inder S and 10 more

Genome-wide analysis of DNA copy number alterations and loss of heterozygosity in intracranial germ cell tumors.

Pediatric blood & cancer | 2014-04-01 | PMID 24249158

Terashima Keita, Yu Alexander, Chow Wing-Yuk T and 16 more

Genes: CCND2, PRDM14

High resolution SNP array profiling identifies variability in retinoblastoma genome stability.

Genes, chromosomes & cancer | 2014-01-01 | PMID 24249257

Mol Berber M, Massink Maarten P G, van der Hout Annemarie H and 10 more

Genes: AKT1, FUT8, MYCN, OTX2

Thiamine responsive megaloblastic anemia: the puzzling phenotype.

Pediatric blood & cancer | 2014-03-01 | PMID 24249281

Beshlawi Ismail, Al Zadjali Shoaib, Bashir Wafa and 3 more

A recommendation to perform a blood culture before the administration of intravenous antibiotics increased the detection of Staphylococcus aureus bacteremia.

European journal of clinical microbiology & infectious diseases : official publication of the European Society of Clinical Microbiology | 2014-05-01 | PMID 24249284

Jogenfors A, Stark L, Svefors J and 3 more

Prevalence and differentiation of hereditary breast and ovarian cancers in Japan.

Breast cancer (Tokyo, Japan) | 2015-09-01 | PMID 24249303

Nakamura Seigo, Takahashi Masato, Tozaki Mitsuhiro and 11 more

Genes: BRCA1, BRCA2

New approach to cancer therapy based on a molecularly defined cancer classification.

CA: a cancer journal for clinicians | 2000-01-01 | PMID 24249308

Cortés Javier, Calvo Emiliano, Vivancos Ana and 3 more

Identification of novel NOTCH1 mutations: increasing our knowledge of the NOTCH signaling pathway.

Pediatric blood & cancer | 2014-05-01 | PMID 24249312

Gallo Llorente L, Luther H, Schneppenheim R and 3 more

Genes: NOTCH1

Bilateral pulmonary embolism in twins with PAI-1 4G/5G gene polymorphism: a case report.

Wiener klinische Wochenschrift | 2014-01-01 | PMID 24249316

Kronbichler Andreas, Oelzner Peter, Syrbe Günter and 3 more

Risk-reducing surgery increases survival in BRCA1/2 mutation carriers unaffected at time of family referral.

Breast cancer research and treatment | 2013-12-01 | PMID 24249359

Ingham Sarah L, Sperrin Matthew, Baildam Andrew and 6 more

Genes: BRCA1, BRCA2

Osteopontin mediates tumorigenic transformation of a preneoplastic murine cell line by suppressing anoikis: an Arg-Gly-Asp-dependent-focal adhesion kinase-caspase-8 axis.

Molecular carcinogenesis | 2015-05-01 | PMID 24249517

Hsieh Yu-Hua, van der Heyde Henri, Oh Eok-Soo and 2 more

Evidence for interaction between markers in GABA(A) receptor subunit genes in an Argentinean autism spectrum disorder population.

Autism research : official journal of the International Society for Autism Research | 2014-02-01 | PMID 24249596

Sesarini Carla V, Costa Lucas, Naymark Muriel and 5 more

Genes: GABRB3, GABRD, GABRA1, GABRG2

The role of pharmacogenetics in the disposition of and response to tacrolimus in solid organ transplantation.

Clinical pharmacokinetics | 2014-02-01 | PMID 24249597

Hesselink Dennis A, Bouamar Rachida, Elens Laure and 2 more

Genes: POR, ABCB1

A strategy to find gene combinations that identify children who progress rapidly to type 1 diabetes after islet autoantibody seroconversion.

Acta diabetologica | 2014-01-01 | PMID 24249616

Bonifacio Ezio, Krumsiek Jan, Winkler Christiane and 2 more

Genes: IFIH1, INS, CTLA4, ERBB3, PTPN2, PTPN22

Molecular characterization of p16-immunopositive but HPV DNA-negative oropharyngeal carcinomas.

International journal of cancer | 2014-05-15 | PMID 24249631

Rietbergen Michelle M, Snijders Peter J F, Beekzada Derakshan and 9 more

Genome-wide protein QTL mapping identifies human plasma kallikrein as a post-translational regulator of serum uPAR levels.

FASEB journal : official publication of the Federation of American Societies for Experimental Biology | 2014-02-01 | PMID 24249636

Portelli Michael A, Siedlinski Mateusz, Stewart Ceri E and 11 more

Genes: KLKB1

Variability in the precore and core promoter region of the hepatitis B virus genome.

Journal of medical virology | 2014-03-01 | PMID 24249691

Nordin Maria, Ingman Mikael, Lindqvist Beata and 1 more

Synergistic role of protein phosphatase inhibitor 1 and sarco/endoplasmic reticulum Ca2+ -ATPase in the acquisition of the contractile phenotype of arterial smooth muscle cells.

Circulation | 2014-02-18 | PMID 24249716

Lipskaia Larissa, Bobe Regis, Chen Jiqiu and 15 more

The genetic basis for individual differences in mRNA splicing and APOBEC1 editing activity in murine macrophages.

Genome research | 2014-03-01 | PMID 24249727

Hassan Musa A, Butty Vincent, Jensen Kirk D C and 1 more

Genes: APOBEC1

Multistage genome-wide association meta-analyses identified two new loci for bone mineral density.

Human molecular genetics | 2014-04-01 | PMID 24249740

Zhang Lei, Choi Hyung Jin, Estrada Karol and 53 more

Genes: CLDN14, SMOC1, AKAP11, ESR1, FGFRL1, FOXL1, LRP5, MEPE

Bruton's tyrosine kinase--an integral protein of B cell development that also has an essential role in the innate immune system.

Journal of leukocyte biology | 2014-02-01 | PMID 24249742

López-Herrera Gabriela, Vargas-Hernández Alexander, González-Serrano Maria Edith and 4 more

Menstrual blood closely resembles the uterine immune micro-environment and is clearly distinct from peripheral blood.

Human reproduction (Oxford, England) | 2014-02-01 | PMID 24249743

van der Molen R G, Schutten J H F, van Cranenbroek B and 6 more

Genes: CXCR4, CXCR3

A proposal of new diagnostic pathway for fatal familial insomnia.

Journal of neurology, neurosurgery, and psychiatry | 2014-06-01 | PMID 24249784

Krasnianski A, Sanchez Juan P, Ponto Claudia and 6 more

Modeling tenderness for genetic and quantitative trait loci analyses.

Journal of animal science | 2014-01-01 | PMID 24249798

Chang L Y, Pitchford W S, Bottema C D K

Plastid-localized glutathione reductase2-regulated glutathione redox status is essential for Arabidopsis root apical meristem maintenance.

The Plant cell | 2013-11-01 | PMID 24249834

Yu Xin, Pasternak Taras, Eiblmeier Monika and 11 more

Low-density lipoprotein receptor gene mutation analysis and structure-function correlation in an Omani arab family with familial hypercholesterolemia.

Angiology | 2014-11-01 | PMID 24249837

Al-Rasadi Khalid, Al-Waili Khalid, Al-Zidi Ward Al-Muna and 8 more

Genes: LDLR, PCSK9

Immunomodulation in sepsis: the role of endotoxin removal by polymyxin B-immobilized cartridge.

Mediators of inflammation | 2013-01-01 | PMID 24249974

Esteban Elisabeth, Ferrer Ricard, Alsina Laia and 1 more

Genotoxicity assessment of multispecies probiotics using reverse mutation, mammalian chromosomal aberration, and rodent micronucleus tests.

TheScientificWorldJournal | 2013-01-01 | PMID 24250262

Chiu Yi-Jen, Nam Mun-Kit, Tsai Yueh-Ting and 2 more

Human SLC26A1 gene variants: a pilot study.

TheScientificWorldJournal | 2013-01-01 | PMID 24250268

Dawson Paul A, Sim Pearl, Mudge David W and 1 more

Genes: SAT1

Investigation of genetic structure between deep and shallow populations of the southern Rock Lobster, Jasus edwardsii in Tasmania, Australia.

PloS one | 2013-01-01 | PMID 24250747

Morgan Erin M J, Green Bridget S, Murphy Nicholas P and 1 more

Somatic point mutation calling in low cellularity tumors.

PloS one | 2013-01-01 | PMID 24250782

Kassahn Karin S, Holmes Oliver, Nones Katia and 31 more

Autoantibodies to harmonin and villin are diagnostic markers in children with IPEX syndrome.

PloS one | 2013-01-01 | PMID 24250806

Lampasona Vito, Passerini Laura, Barzaghi Federica and 5 more

Genes: FOXP3

Association of the glutathione s-transferase m1, t1 polymorphisms with cancer: evidence from a meta-analysis.

PloS one | 2013-01-01 | PMID 24250808

Fang Jianzheng, Wang Shangqian, Zhang Shengli and 13 more

Genes: GSTM1, GSTT1

The role of nitric oxide signaling in food intake; insights from the inner mitochondrial membrane peptidase 2 mutant mice.

Redox biology | 2013-01-01 | PMID 24251118

Han Changjie, Zhao Qingguo, Lu Baisong

Genes: NPY, POMC

Human NKCC2 cation–Cl– co-transporter complements lack of Vhc1 transporter in yeast vacuolar membranes.

Yeast (Chichester, England) | 2013-10-01 | PMID 24251329

Petrezselyova Silvia, Dominguez Angel, Herynkova Pavla and 2 more

Molecular epidemiology of Rabbit Haemorrhagic Disease Virus in Australia: when one became many.

Molecular ecology | 2014-02-01 | PMID 24251353

Kovaliski John, Sinclair Ron, Mutze Greg and 5 more

Severe skin inflammation and filaggrin mutation similarly alter the skin barrier in patients with atopic dermatitis.

The British journal of dermatology | 2014-03-01 | PMID 24251354

Mócsai G, Gáspár K, Nagy G and 7 more

Genes: FLG

A randomized trial of genotype-guided dosing of acenocoumarol and phenprocoumon.

The New England journal of medicine | 2013-12-12 | PMID 24251360

Verhoef Talitha I, Ragia Georgia, de Boer Anthonius and 16 more

Genes: VKORC1

A pharmacogenetic versus a clinical algorithm for warfarin dosing.

The New England journal of medicine | 2013-12-12 | PMID 24251361

Kimmel Stephen E, French Benjamin, Kasner Scott E and 28 more

A randomized trial of genotype-guided dosing of warfarin.

The New England journal of medicine | 2013-12-12 | PMID 24251363

Pirmohamed Munir, Burnside Girvan, Eriksson Niclas and 16 more

Genes: VKORC1

A resource of single-nucleotide polymorphisms for rainbow trout generated by restriction-site associated DNA sequencing of doubled haploids.

Molecular ecology resources | 2014-05-01 | PMID 24251403

Palti Yniv, Gao Guangtu, Miller Michael R and 7 more

Genes: MAF

Epidermal growth factor receptor mutation-specific immunohistochemical antibodies in lung adenocarcinoma.

Histopathology | 2014-05-01 | PMID 24251405

Allo Ghassan, Bandarchi Bizhan, Yanagawa Naoki and 9 more

Genes: EGFR

The role of genetic/genomic factors in health, illness and care provision.

Nursing standard (Royal College of Nursing (Great Britain) : 1987) | 2000-01-01 | PMID 24251514

Tonkin Emma, Skirton Heather

Pharmacological targeting in inherited arrhythmia syndromes.

Current medicinal chemistry | 2014-01-01 | PMID 24251569

Zumhagen S, Strutz-Seebohm N, Seebohm G and 1 more

Persistent effects of maternal smoking during pregnancy on lung function and asthma in adolescents.

American journal of respiratory and critical care medicine | 2014-02-15 | PMID 24251622

Hollams Elysia M, de Klerk Nicholas H, Holt Patrick G and 1 more

Novel mutations in geleophysic dysplasia type 1.

Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society | 2000-01-01 | PMID 24251637

Porayette Prashob, Fruitman Deborah, Lauzon Julie L and 5 more

Genes: ADAMTSL2, FBN1

Deep intronic KRIT1 mutation in a family with clinically silent multiple cerebral cavernous malformations.

Clinical genetics | 2014-12-01 | PMID 24251678

Riant F, Odent S, Cecillon M and 4 more

Genes: CCM2, PDCD10

Cluster of patients with Familial Mediterranean fever and heterozygous carriers of mutations in MEFV gene in the Czech Republic.

Clinical genetics | 2014-12-01 | PMID 24251727

Sedivá A, Horváth R, Maňásek V and 6 more

Genes: MEFV

LDL-c-linked SNPs are associated with LDL-c and myocardial infarction despite lipid-lowering therapy in patients with established vascular disease.

European journal of clinical investigation | 2014-02-01 | PMID 24251769

van de Woestijne Anton P, van der Graaf Yolanda, de Bakker Paul I W and 5 more

Genes: ABO, LDLR, PCSK9, SORT1

Nicotianamine synthase 2 localizes to the vesicles of iron-deficient rice roots, and its mutation in the YXXφ or LL motif causes the disruption of vesicle formation or movement in rice.

The Plant journal : for cell and molecular biology | 2014-01-01 | PMID 24251791

Nozoye Tomoko, Nagasaka Seiji, Bashir Khurram and 4 more

Peripheral blood leucocyte subclasses as potential biomarkers of adipose tissue inflammation and obesity subphenotypes in humans.

Obesity reviews : an official journal of the International Association for the Study of Obesity | 2014-04-01 | PMID 24251825

Pecht T, Gutman-Tirosh A, Bashan N and 1 more

Investigation into the prevalence of a novel dendritic-like cell subset in vivo.

Journal of cellular and molecular medicine | 2013-12-01 | PMID 24251878

Griffiths Kristin Lisa, Tan Jonathan Kah Huat, O'Neill Helen Christine

Kaempferol 3-O-rhamnoside-7-O-rhamnoside is an endogenous flavonol inhibitor of polar auxin transport in Arabidopsis shoots.

The New phytologist | 2014-01-01 | PMID 24251900

Yin Ruohe, Han Kerstin, Heller Werner and 4 more

Association between polyclonal and mixed mycobacterial Mycobacterium avium complex infection and environmental exposure.

Annals of the American Thoracic Society | 2014-01-01 | PMID 24251904

Fujita Kohei, Ito Yutaka, Hirai Toyohiro and 5 more

Review article: the epidemiology and therapy of chronic hepatitis C genotypes 4, 5 and 6.

Alimentary pharmacology & therapeutics | 2014-01-01 | PMID 24251930

Wantuck J M, Ahmed A, Nguyen M H

An integrated model of stomatal development and leaf physiology.

The New phytologist | 2014-03-01 | PMID 24251982

Dow Graham J, Bergmann Dominique C, Berry Joseph A

Interleukin-1-related genes polymorphisms in Turkish patients with Behçet disease: a meta-analysis.

Modern rheumatology | 2014-03-01 | PMID 24252048

Zou Jun, Guan Jian-Long

A novel GBA2 gene missense mutation in spastic ataxia.

Annals of human genetics | 2014-01-01 | PMID 24252062

Votsi Christina, Zamba-Papanicolaou Eleni, Middleton Lefkos T and 2 more

Genes: GBA2, APTX

Association of the tumour necrosis factor-α polymorphisms rs361525 and rs1800629 with susceptibility to psoriasis: a meta-analysis.

Clinical and experimental dermatology | 2013-12-01 | PMID 24252077

Jia Y, Qin H J, Zhang J X and 2 more

Genes: TNF

Aplasia cutis congenita with dystrophic epidermolysis bullosa: clinical and mutational study.

The British journal of dermatology | 2014-04-01 | PMID 24252097

Chiaverini C, Charlesworth A, Fernandez A and 14 more

Deciphering the pathogenesis of sporadic Creutzfeldt-Jakob disease with codon 129 M/V and type 2 abnormal prion protein.

Acta neuropathologica communications | 2013-11-13 | PMID 24252157

Kobayashi Atsushi, Iwasaki Yasushi, Otsuka Hiroyuki and 5 more

YHap: a population model for probabilistic assignment of Y haplogroups from re-sequencing data.

BMC bioinformatics | 2013-11-19 | PMID 24252171

Zhang Fan, Chen Ruoyan, Liu Dongbing and 6 more

Alpha-synuclein interferes with cAMP/PKA-dependent upregulation of dopamine β-hydroxylase and is associated with abnormal adaptive responses to immobilization stress.

Experimental neurology | 2014-02-01 | PMID 24252179

Kim Sasuk, Park Ji-Min, Moon Jisook and 1 more

Genes: DBH

Direct genotyping of Toxoplasma gondii from amniotic fluids based on B1 gene polymorphism using minisequencing analysis.

BMC infectious diseases | 2013-11-19 | PMID 24252188

Costa Jean-Marc, Alanio Alexandre, Moukoury Sandrine and 4 more

The seed dormancy defect of Arabidopsis mutants lacking the transcript elongation factor TFIIS is caused by reduced expression of the DOG1 gene.

FEBS letters | 2014-01-03 | PMID 24252221

Mortensen Simon A, Grasser Klaus D