6 research outputs found
Familial hypercholesterolemia in St.-Petersburg: the known and novel mutations found in the low density lipoprotein receptor gene in Russia
- Author
- A Horvath
- AK Soutar
- AN Meshkov
- AR Miserez
- B Gorski
- B Horsthemke
- CF Bunn
- CK Garcia
- E Leitersdorf
- E Pereira
- GVZ Dedoussis
- HH Hobbs
- HK Jensen
- JL Goldstein
- JL Goldstein
- KE Heath
- Kh Chakir
- LA Ellis
- LM Kunkel
- M Abifadel
- M Mandelshtam
- MJu Mandelshtam
- MS Nauck
- MYu Mandelshtam
- P Lombardi
- P Mozas
- PS Hansen
- S Amsellem
- S Langlois
- SP Shevtsov
- SR Krapivner
- T Yamamoto
- TL Innerarity
- V Kuhrova
- V Kuhrova
- VA Mihaylov
- WJ Chen
- YuA Tatishcheva
- Publication venue
- BioMed Central
- Publication date
- 01/01/2005
- Field of study
BACKGROUND: Familial hypercholesterolemia is a human monogenic disease caused by population-specific mutations in the low density lipoprotein (LDL) receptor gene. Despite thirteen different mutations of the LDL receptor gene were reported from Russia prior to 2003, the whole spectrum of disease-causing gene alterations in this country is poorly known and requires further investigation provided by the current study. METHODS: Forty-five patients with clinical diagnosis of FH were tested for the apolipoprotein B (apoB) mutation R3500Q by restriction fragment length analysis. After exclusion of R3500Q mutation high-sensitive fluorescent single-strand conformation polymorphism (SSCP) analysis and automatic DNA sequencing were used to search for mutations in the LDL receptor gene. RESULTS: We found twenty one rare sequence variations of the LDL receptor gene. Nineteen were probably pathogenic mutations, and two (P518P, T705I) were considered as neutral ones. Among the mutations likely to be pathogenic, eight were novel (c.670-671insG, C249X, c.936-940del5, c.1291-1331del41, W422X, c.1855-1856insA, D601N, C646S), and eleven (Q12X, IVS3+1G>A, c.651-653del3, E207X, c.925-931del7, C308Y, L380H, c.1302delG, IVS9+1G>A, V776M, V806I) have already been described in other populations. None of the patients had the R3500Q mutation in the apoB gene. CONCLUSIONS: Nineteen pathogenic mutations in the LDL receptor gene in 23 probands were identified. Two mutations c.925-931del7 and L380H are shared by St.-Petersburg population with neighbouring Finland and several other mutations with Norway, Sweden or Denmark, i.e. countries from the Baltic Sea region. Only four mutations (c.313+1G>A, c.651-653del3, C308Y and W422X) were recurrent as all those were found in two unrelated families. By this study the number of known mutations in the LDL receptor gene in St.-Petersburg area was increased nearly threefold. Analysis of all 34 low density lipoprotein receptor gene mutations found in St.-Petersburg argues against strong founder effect in Russian familial hypercholesterolemia
An Official American Thoracic Society Research Statement: Current Challenges Facing Research and Therapeutic Advances in Airway Remodeling
- Author
- Andrew J. Halayko
- Barrett EG
- Bento AM
- Berair R
- Blanca Camoretti-Mercado
- Boushey H
- Camoretti-Mercado B
- Carlsen KH
- Carter PM
- Chakir J
- Chakir J
- Davis MS
- Descalzi D
- Gao P
- Grenier PA
- Huber HL
- Jiang H
- Kelly EA
- Kippelen P
- Kirschvink N
- Kistemaker LE
- Kumar RK
- Lauzon AM
- Laxmanan B
- Li M
- Li M
- Loxham M
- Makinde T
- Niimi A
- Pabst R
- Park JA
- Paré PD
- Pera T
- Raymond B. Penn
- Reinoud Gosens
- Reynold A. Panettieri
- Ricciardolo FL
- Riccioni G
- Royce SG
- Sharma P
- Wang XH
- Wiggs BR
- Y. S. Prakash
- Yang YG
- Zitt MJ
- Publication venue
- 'American Thoracic Society'
- Publication date
- Field of study
The need for integrated spatial assessments in ecosystem service mapping
- Author
- A Grêt-Regamey
- A Grêt-Regamey
- A Sen
- A Troy
- AJ Jakeman
- AM Villamagna
- AP GarcÃa-Nieto
- AP GarcÃa-Nieto
- B Burkhard
- B Burkhard
- B Burkhard
- B Egoh
- B MartÃn-López
- B Reyers
- B Wicke
- BG Marcot
- D Abson
- D Campbell
- D Geneletti
- D Geneletti
- D Landuyt
- D Landuyt
- D Schröter
- DN Pennington
- E Gómez-Baggethun
- E Gómez-Baggethun
- E Nelson
- F Barraquand
- F Baró
- F Eigenbrod
- F Schläpfer
- F Villa
- G Brown
- G Carré
- G Mendoza-González
- G Perino
- GC Daily
- GW Luck
- H Saarikoski
- H Tallis
- HP Verburg
- I Palomo
- IJ Bateman
- IJ Bateman
- IJ Bateman
- IJ Bateman
- J Dick
- J Maes
- J Maes
- J Nelson
- JB Loomis
- JC Carbone
- JDO Eade
- JP Schägner
- K Garbach
- KA Johnson
- KH Lee
- KJ Bagstad
- KJ Bagstad
- KJ Bagstad
- L Egarter Vigl
- L Hein
- L Mandle
- L Tardieu
- L Tardieu
- L Willemen
- LM Brander
- M Schaafsma
- M Schröter
- M Schröter
- M Tengö
- ML Plummer
- N Hanley
- N RodrÃguez
- ND Crossman
- NE Bockstael
- O Bastian
- P Cabral
- P Kareiva
- P Nunes
- PH Verburg
- PJ Verkerk
- R Alkemade
- R Brouwer
- R Bryce
- R Chakir
- R Costanza
- R Darvill
- R Haines-Young
- R Haines-Young
- R Naidoo
- R Naidoo
- R Scolozzi
- R Seppelt
- R-U Syrbe
- RA Kelly
- RD Swetnam
- RK Shrestha
- RS Groot de
- RT Woodward
- RW Dunford
- S Balbi
- S Lavorel
- S Navrud
- S Polasky
- S Polasky
- S Polasky
- S Polasky
- S Wolff
- SH Brunner
- SL Jørgensen
- SM Swinton
- SR Carpenter
- T Häyhä
- TE Panduro
- U Pascual
- U Pascual
- UP Kreuter
- VK Smith
- W Zhang
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- Field of study
Cell type-specific regulation of IL-10 expression in inflammation and disease
- Author
- A Awasthi
- A Boonstra
- A D’Andrea
- A Franke
- A Izcue
- A Marchant
- A Maroof
- A Noble
- A O’Garra
- A O’Garra
- A O’Garra
- A Pohl-Koppe
- A Roers
- A Salhi
- A Schaefer
- A Szalmas
- A Villagra
- A Windhagen
- AG Bean
- AG Jarnicki
- AJ Smith
- AP Vicari
- AW Gibson
- B Duan
- B Haringer
- BM Den van
- C Bonifer
- C Gerard
- C Platzer
- C Unterberger
- CA Biron
- CB Wilson
- CF Anderson
- CG Feng
- Christian M. Hedrich
- CL Maynard
- D Benjamin
- D Jankovic
- D Kube
- D Peritt
- D Ranatunga
- D Sacks
- DC Fitzgerald
- DF Fiorentino
- DF Fiorentino
- DF Rogan
- DJ Berg
- DJ Berg
- DM Mosser
- DM Mosser
- DM Mosser
- DU Lee
- E Reuss
- EA Jones
- EH Tran
- EV Fowler
- F Gerosa
- F Gerosa
- G Cai
- G Murugaiyan
- G Orphanides
- G Trinchieri
- GG Welstead
- GY Song
- H Arase
- H Chakir
- H Gary-Gouy
- H Groux
- H Ishida
- H Ishida
- HA Young
- HD Brightbill
- HD Chang
- HD Shin
- HJ Rode
- HT Bjornsson
- J Dong
- J Eskdale
- J Eskdale
- J Gribnau
- J Shoemaker
- J Wessells
- Jay H. Bream
- JB Harley
- JC Siebert
- JD Bouaziz
- JH Bream
- JM Anaya
- JN Wilson
- JR Schoenborn
- JS Gerber
- JS Stumhofer
- JW Steinke
- K Tsuji-Takayama
- K Wolk
- K Yanaba
- KA Frazer
- KH Sonoda
- KM Kurkjian
- KN Couper
- KW Makar
- KW Moore
- KW Moore
- L Siewe
- L Ziegler-Heitbrock
- LA Lieberman
- LH Fu
- LP Cousens
- LR Grant
- M Bodas
- M Fumagalli
- M Howard
- M Lucas
- M Mormann
- M Murai
- M Saraiva
- M Saraiva
- M Shnyreva
- M Tone
- MA Barber
- MA De
- MA Rogy
- MD Wilson
- MG Roncarolo
- MH Wang
- MI Vega
- MJ Loza
- MJ Powell
- ML Boulland
- ML Murphy
- MO Li
- MO Manley
- MR Amel Kashipaz
- MS Weber
- MW Leach
- P Brandtzaeg
- P Lenert
- P Rivailler
- P Rivailler
- P Vigano
- PO Scumpia
- R Glauben
- R Kuhn
- R Lazarus
- R Madan
- R Visconti
- RS Gieni
- S Brenner
- S Cao
- S Ganguly
- S Mocellin
- S Mocellin
- S Mocellin
- S Nylen
- S Nylen
- S Pestka
- S Redpath
- S Rutz
- S Stager
- SA Miles
- SB Fleming
- SC Lin
- SD Blackburn
- SE Umetsu
- SH Im
- SH Lee
- SQ Latifi
- ST Kim
- ST Smale
- SV Kotenko
- T Kato
- T Sawado
- T Sparwasser
- TJ Standiford
- TK Oleksyk
- TL Denning
- TL Denning
- UM Padigel
- W Fischle
- W Ma
- W Zhou
- X Zhang
- Y Belkaid
- Y Shibata
- YP Rubtsov
- ZX Chen
- ZY Wang
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- Field of study
ATLAS calorimeter performance
- Author
- Abdinov OB
- Abolins M
- Abramowicz H
- Ackermann K
- Aderholz M
- Agnvall S
- Airapetian A
- Ajaltouni Z
- Akesson T
- Akimov A
- Alam MS
- Albiol F
- Aleksandrov I
- Alekseev G
- Alexander G
- Alexanian H
- Alexiev D
- Aliev FM
- Alikov B
- Allport PP
- Almehed S
- Aloisio A
- Alviggi MG
- Amako K
- Amaral P
- Amelin DV
- Ammosov VV
- Amorim A
- Anderson K
- Andricek L
- Andrieux ML
- Anghinolfi F
- Anosov V
- Antipov YuM
- Apsimon R J
- Arai Y
- Ardelean J
- Arik E
- Armitage J
- Armstrong WW
- Arnault C
- Arneodo M
- Arsenescu R
- Artamonov A
- Asai M
- Astbury A
- Astvatsaturov A
- Athar SB
- Aubert B
- Auge E
- Autiero D
- Axen D
- Ayad R
- Azhgirei L
- Azuelos G
- Bacci C
- Bachy G
- Badaud F
- Bagnaia P
- Bailey DC
- Baines J T
- Baker OK
- Bakker FE
- Ballester F
- Ballon J
- Ban J
- Bannikov A
- Bar T
- Baranov SA
- Baranov SP
- Barberio E
- Barberis D
- Barnett M
- Barrand G
- Barreiro F
- Basa S
- Bashindzhagian GL
- Basiladze SG
- Batarin V
- Batley JR
- Batrakov A
- Battistoni G
- Baturitsky MA
- Baubillier M
- Baynham D E
- Bazizi K
- Beck GA
- Becker C
- Becks KH
- Behrends S
- Bella G
- Bellettini G
- Bellini G
- Belorgey J
- Belot G
- Belov M
- Ben El Fassi A
- Benary O
- Benincasa G
- Benlloch JM
- Bensinger JR
- Berger EL
- Berglund S
- Bergman R
- Bergsma F
- Beringer J
- Bernabeu J
- Bernard R
- Berriaud C
- Berthier R
- Bezamat J
- Bhadra S
- Bibby JH
- Bignall P
- Billoir P
- Bilokon H
- Bingefors N
- Bini C
- Bintinger D
- Birney P
- Birol I
- Bishop S
- Bjorset L
- Blagov M
- Blair GA
- Blair R
- Blanchot G
- Blanquart L
- Blocker C
- Blocki J
- Bloess D
- Blouzon F
- Blucher E
- Blum W
- Bobbink GJ
- Bock R
- Bogaerts J
- Bogolyubsky MYu
- Bogush AA
- Bohm C
- Bohm J
- Boldea V
- Bondarenko V
- Bonino R
- Bonivento W
- Bonzom V
- Boos E
- Booth CN
- Booth PSL
- Borer K
- Borgeaud P
- Borisov AA
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- Bos K
- Bosi F
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- Boterenbrood H
- Botner O
- Botterill D R
- Bouchel M
- Boucrot J
- Bouhemaid N
- Bourdinaud M
- Bouzakis C
- Boyko I
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- Bozzo M
- Bratzler U
- Braun H
- Bravo S
- Brawn I
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- Breskin A
- Breton D
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- Bromberg C
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- Brouwer C
- Bruncko D
- Bryzgalov VV
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- Budagov Yu
- Bugge L
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- Buis EJ
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- Burckhart HJ
- Burnett TH
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- Hellman S
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- Jones TJ
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- Jusko A
- Juste A
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- Kalinichenko V
- Kambara H
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- Katsoufis E
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- Publication venue
- Publication date
- 01/01/1996
- Field of study
ATLAS computing technical proposal
- Author
- Abdinov OB
- Abolins M
- Abramowicz H
- Ackermann K
- Aderholz M
- Agnvall S
- Airapetian A
- Ajaltouni Z
- Akesson T
- Akimov A
- Alam MS
- Albiol F
- Aleksandrov I
- Alekseev G
- Alexander G
- Alexanian H
- Alexiev D
- Aliev FM
- Alikov B
- Allport PP
- Almehed S
- Aloisio A
- Alviggi MG
- Amako K
- Amaral P
- Amelin DV
- Ammosov VV
- Amorim A
- Anderson K
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- Anghinolfi F
- Anosov V
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- Ardelean J
- Arik E
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- Armstrong WW
- Arnault C
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- Arsenescu R
- Artamonov A
- Asai M
- Astbury A
- Astvatsaturov A
- Athar SB
- Aubert B
- Auge E
- Autiero D
- Axen D
- Ayad R
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- Azuelos G
- Bacci C
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- Badaud F
- Bagnaia P
- Bailey DC
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- Baker OK
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- Bashindzhagian GL
- Basiladze SG
- Batarin V
- Batley JR
- Batrakov A
- Battistoni G
- Baturitsky MA
- Baubillier M
- Baynham D E
- Bazan A
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- Beaugiraud B
- Beck GA
- Becker C
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- Behrends S
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- Bellettini G
- Bellini G
- Belorgey J
- Belot G
- Belov M
- Ben El Fassi A
- Benary O
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- Bensinger JR
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- Stedron M
- Steinberg J
- Stenzel H
- Stephani D
- Stephens R
- Stoker D
- Strauss M
- Striegel D
- Strizenec P
- Strong JA
- Stroynowski R
- Stugu B
- Stumer I
- Suk M
- Sulin V
- Susinno G
- Sutcliffe P
- Sviridov Yu
- Sykora I
- Sytnik VV
- Tadel M
- Taguet JP
- Takagui EM
- Takai H
- Takashima R
- Takeda H
- Takeshita T
- Tanaka S
- Tappern GJ
- Tardell S
- Tartarelli F
- Tas P
- Tatsis S
- Taylor B
- Taylor FE
- Taylor GN
- Teiger J
- Telnov V
- ten Kate H
- Teplitz V
- Terada S
- Thaler J
- Thion J
- Thome ZD
- Thompson G
- Thompson LF
- Thompson RJ
- Thooris B
- Tikhomirov V
- Tikhonov VV
- Tikhonov Yu
- Timm S
- Tirler R
- Tisserand V
- Tisserant S
- Tittel K
- Tkachev L
- Togat V
- Tokar S
- Tokmenin V
- Tomiak Z
- Tompkins D
- Topchishvili L
- Topilin N
- Touchard F
- Tovey SN
- Trefzger T
- Treichel M
- Tribanek W
- Trilling G
- Trischuk W
- Trka Z
- Tsesmelis E
- Tskhadadze E
- Tsukerman I
- Tsyupa Yu
- Turcot A
- Turk I
- Turner PR
- Tvalashvili O
- Tyndel M
- Tzanakos GS
- Ulrichs J
- Unal G
- Unel G
- Unno Y
- Usenko E
- Usov Yu
- Usubov ZU
- Vacavant L
- Valdata-Nappi M
- Vales F
- Valkar S
- Van Berg R
- van der Bij H
- van der Graaf H
- van Eijk B
- Van Hille H
- Vanickova M
- Vanko J
- Vanyashin A
- Varandas M
- Vartapetian A
- Varvell KE
- Vasey F
- Vasileva L
- Vazeille F
- Veenhof R
- Veillet JJ
- Velikzhanin Yu
- Vercesi V
- Vermeulen JC
- Vernay E
- Vertogradov L
- Veyssiere C
- Vichou I
- Vinogradov V
- Virchaux M
- Visser EJ
- von Boehn-Bucholz R
- Vorobev AP
- Vorozhtsov S
- Voss R
- Vovenko AS
- Vrba V
- Vreeswijk M
- Vuaridel B
- Vuillemin V
- Wadsworth BF
- Wagner RG
- Wahlen H
- Waldner F
- Walkowiak W
- Walsh J
- Walter C
- Wampler L
- Wang CH
- Wappler F
- Wasserbaech S
- Wastie R L
- Watase Y
- Watkins PM
- Watson AT
- Watson N K
- Webel M
- Weber C
- Weerts H
- Weidberg AR
- Weilhammer P
- Wellenstein H
- Wellisch HP
- Wendler H
- Wermes N
- Werneke P
- Werner P
- Wesson D
- Whitaker JS
- White A
- White DJ
- Wickens FJ
- Wicklund A B
- Wielers M
- Wijnen TAM
- Wilhelm I
- Williams HH
- Williams ML
- Willis SE
- Willis W
- Wilson JA
- Wingerter I
- Witzeling W
- Wolters H
- Wotschack J
- Woudstra M
- Wu SL
- Wu X
- Wunsch M
- Wunstorf R
- Wyllie KH
- Yakimenko M
- Yamamoto A
- Yamartino JM
- Yamburenko V
- Yamdagni N
- Yarygin G
- Yasu Y
- Yatsunenko Yu
- Yoshida H
- Yu B
- Zaets VG
- Zaitsev AM
- Zaitsev V
- Zalite A
- Zamani M
- Zandona F
- Zanello L
- Zdrazil M
- Zeldovich S
- Zhao T
- Zhao X
- Zhautykov B
- Zhemanov V
- Zhichao L
- Zhou B
- Zhukov VYu
- Zhuravlev N
- Zhuravlev V
- Zielinski M
- Zimin S
- Zitoun R
- Zmushko V
- Zobernig G
- Zolnierowski Y
- Zontar D
- Zoz R
- Zuffranieri F
- Zuniga J
- Zverev EG
- Publication venue
- Publication date
- 01/01/1996
- Field of study