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1

NDDVD: an integrated and manually curated Neurodegenerative Diseases Variation Database

Yang, Yang, Xu, Chen, Liu, Xingyun, Xu, Chao, Zhang, Yuanyuan, Shen, Li, Vihinen, Mauno, Shen, Bairong

Journal:

Year:

2018

Language:

english

File:

PDF, 580 KB

english, 2018

2

Bruton’s tyrosine kinase (Btk): function, regulation, and transformation with special emphasis on the PH domain

Abdalla J. Mohamed, Liang Yu, Carl-Magnus Bäckesjö, Leonardo Vargas, Rani Faryal, Alar Aints, Birger Christensson, Anna Berglöf, Mauno Vihinen, Beston F. Nore, C. I. Edvard Smith

Journal:

Immunological Reviews

Year:

2009

Language:

english

File:

PDF, 599 KB

english, 2009

3

XLA — studies on the BTK tyrosine kinase

C.I. Edvard Smith, Carl-Magnus Bäckesjö, Lars J. Brandén, Tahmina Islam, Pekka T. Mattsson, Abdalla J. Mohamed, Beston F. Nore, Vargas V. Leonardo, Mauno Vihinen

Journal:

Molecular Immunology

Year:

1998

File:

PDF, 251 KB

1998

4

An algorithm for simultaneous comparison of several sequences

Journal:

Year:

1988

Language:

english

File:

PDF, 278 KB

english, 1988

5

X-linked agammaglobulinemia (XLA): A genetic tyrosine kinase (Btk) disease

Pekka T. Mattsson, Mauno Vihinen, C. I. Edvard Smith

Journal:

Year:

1996

Language:

english

File:

PDF, 1.30 MB

english, 1996

6

KinMutBase: A registry of disease-causing mutations in protein kinase domains

Csaba Ortutay, Jouni Väliaho, Kaj Stenberg, Mauno Vihinen

Journal:

Year:

2005

Language:

english

File:

PDF, 385 KB

english, 2005

7

Classification of mismatch repair gene missense variants with PON-MMR

Heidi Ali, Ayodeji Olatubosun, Mauno Vihinen

Journal:

Year:

2012

Language:

english

File:

PDF, 248 KB

english, 2012

8

BTKbase: a database of XLA-causing mutations

Journal:

Immunology Today

Year:

1995

Language:

english

File:

PDF, 930 KB

english, 1995

9

Genome wide analysis of pathogenic SH2 domain mutations

Ilkka Lappalainen, Janita Thusberg, Bairong Shen, Mauno Vihinen

Journal:

Proteins: Structure, Function, and Bioinformatics

Year:

2008

Language:

english

File:

PDF, 465 KB

english, 2008

10

Accuracy of protein flexibility predictions

Mauno Vihinen, Esa Torkkila, Pentti Riikonen

Journal:

Proteins: Structure, Function, and Bioinformatics

Year:

1994

Language:

english

File:

PDF, 949 KB

english, 1994

11

On preprocessing of protein sequences for neural network prediction of polyproline type II secondary structures

Markku Siermala, Martti Juhola, Mauno Vihinen

Journal:

Computers in Biology and Medicine

Year:

2001

Language:

english

File:

PDF, 164 KB

english, 2001

12

Bruton's tyrosine kinase: cell biology, sequence conservation, mutation spectrum, siRNA modifications, and expression profiling

Jessica M. Lindvall, K. Emelie M. Blomberg, Jouni Väliaho, Leonardo Vargas, Juhana E. Heinonen, Anna Berglöf, Abdalla J. Mohamed, Beston F. Nore, Mauno Vihinen, C. I. Edvard Smith

Journal:

Immunological Reviews

Year:

2005

Language:

english

File:

PDF, 5.11 MB

english, 2005

13

Microbial Amylolytic Enzyme

Vihinen, Mauno, Mantsiila, Pekka

Journal:

Critical Reviews in Biochemistry and Molecular Biology

Year:

1989

Language:

english

File:

PDF, 5.04 MB

english, 1989

14

How to evaluate performance of prediction methods? Measures and their interpretation in variation effect analysis

Journal:

Year:

2012

Language:

english

File:

PDF, 758 KB

english, 2012

15

Clarity and claims in variation/mutation databasing

Dalgleish, Raymond, Oetting, William S, Auerbach, Arleen D, Beckmann, Jacques S, Cambon-Thomsen, Anne, Devereau, Andrew, Greenblatt, Marc S, Patrinos, George P, Taylor, Graham R, Vihinen, Mauno, Brook

Journal:

Nature Biotechnology

Year:

2011

Language:

english

File:

PDF, 155 KB

english, 2011

16

PON-Sol: prediction of effects of amino acid substitutions on protein solubility

Yang, Yang, Niroula, Abhishek, Shen, Bairong, Vihinen, Mauno

Journal:

Year:

2016

Language:

english

File:

PDF, 169 KB

english, 2016

17

Classification of Amino Acid Substitutions in Mismatch Repair Proteins Using PON-MMR2

Niroula, Abhishek, Vihinen, Mauno

Journal:

Year:

2015

Language:

english

File:

PDF, 1004 KB

english, 2015

18

Variation benchmark datasets: update, criteria, quality and applications

Sarkar, Anasua, Yang, Yang, Vihinen, Mauno

Journal:

Year:

2020

Language:

english

File:

PDF, 427 KB

english, 2020

19

Functional effects of protein variants

Journal:

Year:

2021

File:

PDF, 2.16 MB

2021

20

Thermal unfolding of small proteins with SH3 domain folding pattern

Stefan Knapp, Pekka T. Mattson, Petya Christova, Kurt D. Berndt, Andrej Karshikoff, Mauno Vihinen, C.I. Edvard Smith, Rudolf Ladenstein

Journal:

Proteins: Structure, Function, and Bioinformatics

Year:

1998

Language:

english

File:

PDF, 344 KB

english, 1998

21

Registries of immunodeficiency patients and mutations

Ilkka Lappalainen, Juha Ollila, C. I. Edvard Smith, Mauno Vihinen

Journal:

Year:

1997

Language:

english

File:

PDF, 211 KB

english, 1997

22

Mutations of the human BTK gene coding for bruton tyrosine kinase in X-linked agammaglobulinemia

Mauno Vihinen, Sau-Ping Kwan, Tracy Lester, Hans D. Ochs, Igor Resnick, Jouni Väliaho, Mary Ellen Conley, C.I. Edvard Smith

Journal:

Year:

1999

Language:

english

File:

PDF, 237 KB

english, 1999

23

The Tec family of cytoplasmic tyrosine kinases: mammalian Btk, Bmx, Itk, Tec, Txk and homologs in other species

C.I. Edvard Smith, Tahmina C. Islam, Pekka T. Mattsson, Abdalla J. Mohamed, Beston F. Nore, Mauno Vihinen

Journal:

Year:

2001

Language:

english

File:

PDF, 549 KB

english, 2001

24

Interaction between Btk TH and SH3 domain

Michael P. Okoh, Mauno Vihinen

Journal:

Year:

2002

Language:

english

File:

PDF, 1.44 MB

english, 2002

25

Virtual bioinformatics distance learning suite

Martti Tolvanen, Mauno Vihinen

Journal:

Biochemistry and Molecular Biology Education

Year:

2004

Language:

english

File:

PDF, 87 KB

english, 2004

26

Mutations in severe combined immune deficiency (SCID) due to JAK3 deficiency

Luigi D. Notarangelo, Patrizia Mella, Alison Jones, Genevieve de Saint Basile, Gianfranco Savoldi, Treena Cranston, Mauno Vihinen, Richard Fabian Schumacher

Journal:

Year:

2001

Language:

english

File:

PDF, 407 KB

english, 2001

27

APECED-causing mutations in AIRE reveal the functional domains of the protein

Maria Halonen, Hannele Kangas, Taina Rüppell, Tanja Ilmarinen, Juha Ollila, Meelis Kolmer, Mauno Vihinen, Jorma Palvimo, Jani Saarela, Ismo Ulmanen, Petra Eskelin

Journal:

Year:

2004

Language:

english

File:

PDF, 603 KB

english, 2004

28

Immunodeficiency mutation databases (IDbases)

Hilkka Piirilä, Jouni Väliaho, Mauno Vihinen

Journal:

Year:

2006

Language:

english

File:

PDF, 263 KB

english, 2006

29

Bioinformatic analysis of protein structure–function relationships: case study of leukocyte elastase (ELA2) missense mutations

Janita Thusberg, Mauno Vihinen

Journal:

Year:

2006

Language:

english

File:

PDF, 805 KB

english, 2006

30

BTKbase: the mutation database for X-linked agammaglobulinemia

Jouni Väliaho, C.I. Edvard Smith, Mauno Vihinen

Journal:

Year:

2006

Language:

english

File:

PDF, 335 KB

english, 2006

31

Focus on immunogenetics: diagnosis, molecular genetics, mutations, and diseases

Journal:

Year:

2006

Language:

english

File:

PDF, 94 KB

english, 2006

32

Pathogenic or not? And if so, then how? Studying the effects of missense mutations using bioinformatics methods

Janita Thusberg, Mauno Vihinen

Journal:

Year:

2009

Language:

english

File:

PDF, 367 KB

english, 2009

33

A novel mutation in CD40 and its functional characterization

Chun-Jian Qi, Lu Zheng, Hong-Bing Ma, Min Fei, Ke-Qing Qian, Bai-Rong Shen, Chang-Ping Wu, Mauno Vihinen, Xue-Guang Zhang

Journal:

Year:

2009

Language:

english

File:

PDF, 613 KB

english, 2009

34

Sharing data between LSDBs and central repositories

Johan T. den Dunnen, Rolf H. Sijmons, Paal S. Andersen, Mauno Vihinen, Jacques S. Beckmann, Sandro Rossetti, C. Conover Talbot Jr, Ross C. Hardison, Sue Povey, Richard G.H. Cotton

Journal:

Year:

2009

Language:

english

File:

PDF, 115 KB

english, 2009

35

The Human Variome Project (HVP) 2009 Forum “Towards Establishing Standards”

Heather J. Howard, Ourania Horaitis, Richard G.H. Cotton, Mauno Vihinen, Raymond Dalgleish, Peter Robinson, Anthony J. Brookes, Myles Axton, Robert Hoffmann, Sylvie Tuffery-Giraud

Journal:

Year:

2010

Language:

english

File:

PDF, 91 KB

english, 2010

36

Performance of protein stability predictors

Sofia Khan, Mauno Vihinen

Journal:

Year:

2010

Language:

english

File:

PDF, 307 KB

english, 2010

37

Performance of mutation pathogenicity prediction methods on missense variants

Janita Thusberg, Ayodeji Olatubosun, Mauno Vihinen

Journal:

Year:

2011

Language:

english

File:

PDF, 447 KB

english, 2011

38

Curating gene variant databases (LSDBs): Toward a universal standard

Jacopo Celli, Raymond Dalgleish, Mauno Vihinen, Peter E.M. Taschner, Johan T. den Dunnen

Journal:

Year:

2012

Language:

english

File:

PDF, 343 KB

english, 2012

39

Guidelines for establishing locus specific databases

Mauno Vihinen, Johan T. den Dunnen, Raymond Dalgleish, Richard G. H. Cotton

Journal:

Year:

2012

Language:

english

File:

PDF, 404 KB

english, 2012

40

Novel insertions of Bruton tyrosine kinase in patients with X-linked agammaglobulinemia

Michael P. Okoh, Leena Kainulainen, Kaarina Heiskanen, M. Nizam Isa, Kim Varming, Olli Ruuskanen, Mauno Vihinen

Journal:

Year:

2002

Language:

english

File:

PDF, 34 KB

english, 2002

41

On exact string matching of unique oligonucleotides

Heikki Hyyrö, Martti Juhola, Mauno Vihinen

Journal:

Computers in Biology and Medicine

Year:

2005

Language:

english

File:

PDF, 180 KB

english, 2005

42

BTKbase: XLA-mutation registry

Mauno Vihinen, Rik A. Brooimans, Sau-Ping Kwan, Heikki Lehväslaiho, Gary W. Litman, Hans D. Ochs, Igor Resnick, Jerrold H. Schwaber, Igor Vořechovsky, C.I.Edvard Smith

Journal:

Immunology Today

Year:

1996

Language:

english

File:

PDF, 629 KB

english, 1996

43

Immunodeficiency mutation databases — a new research tool

C.I.Edvard Smith, Mauno Vihinen

Journal:

Immunology Today

Year:

1996

Language:

english

File:

PDF, 184 KB

english, 1996

44

Bioinformatics in proteomics

Journal:

Biomolecular Engineering

Year:

2001

Language:

english

File:

PDF, 116 KB

english, 2001

45

Novel immunodeficiency data servers

Jouni Väliaho, Pentti Riikonen, Mauno Vihinen

Journal:

Immunological Reviews

Year:

2000

Language:

english

File:

PDF, 4.18 MB

english, 2000

46

Spectrum of disease-causing mutations in protein secondary structures

Sofia Khan, Mauno Vihinen

Journal:

BMC Structural Biology

Year:

2007

Language:

english

File:

PDF, 1.59 MB

english, 2007

47

Expression of sterol regulatory element-binding transcription factor (SREBF) 2 and SREBF cleavage-activating protein (SCAP) in human atheroma and the association of their allelic variants with sudden cardiac death

Yue-Mei Fan, Pekka J Karhunen, Mari Levula, Erkki Ilveskoski, Jussi Mikkelsson, Olli A Kajander, Otso Järvinen, Niku Oksala, Janita Thusberg, Mauno Vihinen, Juha-Pekka Salenius, Leena Kytömäki, Juhani

Journal:

Thrombosis Journal

Year:

2008

Language:

english

File:

PDF, 234 KB

english, 2008

48

ImmTree: Database of evolutionary relationships of genes and proteins in the human immune system

Csaba Ortutay, Markku Siermala, Mauno Vihinen

Journal:

Immunome Research

Year:

2007

Language:

english

File:

PDF, 1.20 MB

english, 2007

49

IDR knowledge base for primary immunodeficiencies

Crina Samarghitean, Jouni Väliaho, Mauno Vihinen

Journal:

Immunome Research

Year:

2007

Language:

english

File:

PDF, 1.03 MB

english, 2007

50

Efficiency of the immunome protein interaction network increases during evolution

Csaba Ortutay, Mauno Vihinen

Journal:

Immunome Research

Year:

2008

Language:

english

File:

PDF, 1.26 MB

english, 2008