6 research outputs found
Mutations in the gene encoding 3β- hydroxysteroid-Δ8,Δ7- isomerase cause X-linked dominant Conradi-Hünermann syndrome
- Author
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- Field of study
Mutations causing Greenberg dysplasia but not Pelger anomaly uncouple enzymatic from structural functions of a nuclear membrane protein
- Author
- Bennati AM
- Chitayat D
- Cohen TV
- Courvalin JC
- De Brasi D
- Fauci AS
- Fitzky BU
- Gondre-Lewis MC
- Greenberg CR
- Hoffmann K
- Hoffmann K
- Holmer L
- Horn LC
- Kolf-Clauw M
- Konstantinidou A
- Lorand T
- Ma Y
- Madazli R
- McConihay JA
- Offiah AC
- Oosterwijk JC
- Parker JE
- Roux C
- Schuler E
- Shultz LD
- Silve S
- Soullam B
- Spranger J
- Stricker S
- Trajkovski Z
- Veen M
- Wassif CA
- Wassif CA
- Waterham HR
- Witsch-Baumgartner M
- Worman HJ
- Publication venue
- Landes Bioscience
- Publication date
- 01/01/2010
- Field of study
The lamin B receptor (LBR) is an inner nuclear membrane protein with a structural function interacting with chromatin and lamins, and an enzymatic function as a sterol reductase. Heterozygous LBR mutations cause nuclear hyposegmentation in neutrophils (Pelger anomaly), while homozygous mutations cause prenatal death with skeletal defects and abnormal sterol metabolism (Greenberg dysplasia). It has remained unclear whether the lethality in Greenberg dysplasia is due to cholesterol defects or altered nuclear morphology
Designing vegetation barriers for urban air pollution abatement: a practical review for appropriate plant species selection
- Author
- A Font
- A Guenther
- A McNabola
- A Mukherjee
- A Nadgórska–Socha
- A Sæbø
- A Tiwary
- AC Fitzky
- AK Pandey
- AK Pandey
- AK Pandey
- AN Al-Dabbous
- AP Patton
- APR Jeanjean
- AR Sherman
- B Seyednasrollah
- C Calfapietra
- C Ortolani
- CW Huang
- D Hilbert
- D Liang
- D Ranasinghe
- D Tomaszewski
- DYC Leung
- ES Lee
- F Kong
- G Churkina
- G Churkina
- GH Donovan
- H Madureira
- H Oshio
- H Sjöman
- H Sjöman
- H Sénéchal
- I Jankovska
- I Neft
- J Burkhardt
- J Burkhardt
- J Chen
- J Chenoweth
- J Gallagher
- J Lalitha
- J Laothawornkitkul
- J Mori
- J Mori
- J Urban
- J Vieira
- J Yang
- J-L Santiago
- JA Salmond
- JA Salmond
- JH Tibbetts
- JL Santiago
- JT Steffens
- K Achakzai
- K Beyer
- K Perini
- K Reinmuth-Selzle
- KJ Willis
- KV Abhijith
- KV Abhijith
- L Chen
- L Mo
- L Wang
- L Zhang
- LA Roman
- LA Roman
- LG Cuinica
- LG Cuinica
- M Demuzere
- M Ghasemian
- M Giardina
- M Irfan
- M Tallis
- M Viecco
- M Zouari
- MR Heal
- MR Raupach
- MT Benjamin
- N Sade
- O Kardan
- O Roupsard
- OJ Abelleira MartĂnez
- P Cariñanos
- P Kumar
- P Kumar
- P Kumar
- P Kumar
- P Kumar
- P Pakzad
- R Aerts
- R Baldauf
- R Baraldi
- R Baraldi
- R Buccolieri
- R Buccolieri
- R Grote
- RJ Leonard
- S Janhäll
- S Muhammad
- SK Bharti
- T Elmqvist
- T Grigoratos
- T Hartig
- T Lawson
- TE Morakinyo
- TE Morakinyo
- TM Conway
- TS Eisenman
- U Weerakkody
- U Weerakkody
- U Weerakkody
- W Selmi
- W Zhang
- W Zhang
- X Chen
- X-B Li
- Y Ren
- Y Song
- Y Xing
- Z Tong
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- Field of study
Genetics of craniofacial development and malformation
- Author
- A Fleming
- A Trumpp
- A Yang
- AB Butler
- AC Lidral
- AJ Richards
- AK Ryan
- AO Wilkie
- AOM Wilkie
- B Galliot
- BC Schutte
- BU Fitzky
- C Brewer
- C Brewer
- C Chiang
- C Gans
- C Isaac
- CA Wassif
- CA Wassif
- D Johnson
- D Johnson
- D Kelberman
- D Lohnes
- D Orioli
- D Poswillo
- D Sun
- D Wallis
- DE Clouthier
- DE Wallis
- DM Juriloff
- DP Rice
- E Belloni
- E Roessler
- E Shishido
- EA Lindsay
- EA Lindsay
- EN Meyers
- EW Jabs
- F Hirth
- FM Rijli
- G Oliver
- G Proetzel
- GA Bellus
- GM Morriss-Kay
- H Naora
- HR Waterham
- I Matsuo
- I Satokata
- I Satokata
- J Anderson
- J Celli
- J Dixon
- J Dixon
- J Hastbacka
- J Massagué
- J Rossant
- J Taipale
- JA Porter
- JA Price
- JC Corbo
- JF Crow
- JM Richman
- JR Barrow
- K Kawakami
- K Suzuki
- K Tangchaitrong
- K Yu
- KM Neilson
- KW Gripp
- L Ma
- LA Jerome
- LA Mavrogiannis
- LA Opperman
- M Brand
- M Gendron-Maguire
- M Manzanares
- M Muenke
- M Muenke
- M Muenke
- M Muenke
- M Nomura
- M Oldridge
- M Torres
- M Vikkula
- M-JH Van den Boogaard
- MBL Carlton
- MF Lu
- MK Cooper
- MK Hajihosseini
- MM Halford
- MM Halford
- NA Quaderi
- NJ Prescott
- P Bourgeois
- P Francis-West
- P Kraus
- P-X Xu
- PE Ahlberg
- PJ Scambler
- R Jiang
- RA Schneider
- RI Kelley
- RM Hofstra
- RM Winter
- RPS Jefferies
- RRJ Cousley
- RSP Beddington
- RT Zori
- S Abdelhak
- S Iseki
- S Merscher
- S Mundlos
- S Qu
- SA Brown
- SC Robertson
- SM Shimeld
- T Nagai
- T Nottoli
- TC Cox
- TD Howard
- V El Ghouzzi
- V El Ghouzzi
- V Kaartinen
- V Kaartinen
- V Marigo
- W DeMyer
- W Reardon
- W Wuyts
- W Wuyts
- Y Chai
- Y Echelard
- Y Hamamori
- Y Li
- Y Taya
- Y-X Zhou
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- Field of study
Immunopathobiology and therapeutic targets related to cytokines in liver diseases
- Author
- A Andoh
- A Guillot
- A Iracheta-Vellve
- A Jäger
- A Knappe
- A Lemmers
- A Lercher
- A Mantovani
- A Wree
- A Wree
- AA Negash
- AA Negash
- AA Widjaja
- AC Tosello-Trampont
- AE Taylor
- AH Chan
- AJ Murphy
- AL Gomes
- AM Miller
- AM Mirea
- AO Hall
- AR Mridha
- AW Tong
- B Everts
- B Foglia
- B Gao
- B Gao
- B Gyongyosi
- B Liang
- B Xu
- BL Hu
- BM Everett
- BU Fitzky
- C Cai
- C Diveu
- C Liu
- C Miot
- C Pelaia
- C Pelaia
- C Schwartz
- C Wahl
- C Zhang
- CA Dinarello
- CA Norris
- CC Cunningham
- CI Lin
- CJ Wang
- CM Larsen
- CS Voican
- D Busato
- D Feng
- D Feng
- D Klatzmann
- D Lejeune
- D Schmidt-Arras
- D Schwinge
- D Wallach
- DA Giles
- DA Giles
- DB Ballak
- DJ Cua
- DW Crabb
- E Caparros
- E Giannoudaki
- E Ikonen
- E Khanova
- E Larrea
- E Liaskou
- E Mas
- E Schmitt
- EA McKie
- EA Rickel
- EC Nowak
- ED Tait Wojno
- EE Moore
- EJ Pearce
- F Artru
- F Glaser
- F Grabherr
- F Heymann
- F Lafdil
- F Meng
- F Meng
- G Grunig
- G Ravichandran
- G Tiegs
- G Yang
- GP Dunn
- H Abe
- H Blumberg
- H Pan
- H Peng
- H Takatori
- H Tan
- H Tilg
- H Tsutsui
- H Wang
- H Weng
- H Yu
- H Yu
- H Zhou
- HC Jeffery
- HR Bae
- HY Ma
- HY Ma
- II Ivanov
- J Bergmann
- J Dambacher
- J Dias
- J Gu
- J Henao-Mejia
- J Lee
- J Lokau
- J Pan
- J Petrasek
- J Petrasek
- J Schmitz
- J Wang
- J Wei
- J Xu
- J Yu
- J Zhao
- JA Dudakov
- JA Walker
- JH Lee
- JK Kolls
- JM Townsend
- JP Arab
- JY Kim
- JY Zhang
- K Aleksandrova
- K Bao
- K Cui
- K McDaniel
- K Neumann
- K Nonogaki
- K Schwarzkopf
- K Wing
- K Wolk
- K Yamanishi
- KM Hart
- KY Tang
- L Cordero-Espinoza
- L Hahn
- L Li
- L Salimzadeh
- L Su
- L Yang
- LA Solt
- LA Zenewicz
- LF Palomera
- LJ Pallett
- LY Wu
- M Bachmann
- M Eslam
- M Eslam
- M Flisiak-Jackiewicz
- M Lopez-Yoldi
- M Matsuda
- M Pascual
- M Sertorio
- M Sultan
- M Wang
- M Wills-Karp
- M Zheng
- MA Kleinschek
- ME Ali
- ME Menezes
- ME Rothenberg
- MH Kaplan
- MI Arshad
- MJ Xu
- ML Ortiz
- MM Antunes
- MR Boland
- MX Cui
- N Fazel Modares
- N Gehrke
- N Isorce
- N Pang
- NA Molfino
- NC Boetticher
- NK Ramsay
- O Park
- O Waidmann
- OS Kotsiou
- OW Yeung
- P Castillo-Dela Cruz
- P Hermant
- P Marvie
- P Scheiermann
- P Scheiermann
- P Vasseur
- PB Fisher
- Q Chang
- R Jiang
- R Lai
- R Liberal
- R Liberal
- R Mo
- R Mo
- R Sabat
- R Sabat
- R Seelige
- R Taubert
- RA Clark
- RCO Sanches
- RG Foster
- RG Gieling
- RL Gieseck 3rd
- RL Gieseck 3rd
- RPH Meier
- RS Barsoum
- RY Gao
- S Brand
- S Cazanave
- S Faure-Dupuy
- S Fichtner-Feigl
- S Gordon
- S Hor
- S Hwang
- S Koch
- S Olteanu
- S Radaeva
- S Radaeva
- S Radaeva
- S Rutz
- S Su
- S von Vietinghoff
- S Wan
- SA Jones
- SC Liang
- SG Kalathil
- SH Ki
- SJ Yu
- SK Asrani
- SL Friedman
- SL Gaffen
- SM Brunner
- SM McCormick
- SY Qin
- T Almog
- T Lan
- T McHedlidze
- T Nishina
- T Starnes
- T Zhan
- T Zheng
- TF Osborne
- TH Ashour
- TR Malek
- U von Freeden-Jeffry
- UM Wegenka
- W Elyaman
- W Hueber
- W Koestner
- W Ouyang
- W Seo
- W Tan
- WI Jeong
- WW Xing
- WY Chen
- WZ Ding
- X Guo
- X He
- X He
- X Hou
- X Kong
- X Liu
- X Tan
- X Xiang
- X Xiang
- X Yu
- X Zhang
- XF Li
- XX Feng
- Y Cao
- Y Chen
- Y Gao
- Y Iwakura
- Y Kamari
- Y Koyama
- Y Liu
- Y Liu
- Y Lu
- Y Sawa
- Y Yamaguchi
- Y Zhang
- Y Zheng
- Y Zhu
- YH Hsu
- YP Goh
- YS Chiu
- YS Chiu
- YS Choi
- Z Hu
- Z Jin
- Z Sun
- Z Tan
- Z Yao
- Z Zeng
- ZF Xi
- ZX Liu
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- Field of study
Regulation of glucose and lipid metabolism in health and disease
- Author
- A Bartelt
- A Barthel
- A Brooks-Wilson
- A Chorlay
- A Consoli
- A CĂ©sar-Razquin
- A Das
- A Fedoseienko
- A Lass
- A Melnikov
- A Nohturfft
- A Orr
- A Radhakrishnan
- A Radhakrishnan
- A Romanauska
- A Wagschal
- AC Goldberg
- AD Gillon
- AJ Brown
- AJM Santos
- AK Bhattacharyya
- AK Khachadurian
- AK Khachadurian
- AK Madiraju
- AK Rines
- AK Soutar
- AK Soutar
- AL Williams
- AM Cypess
- AP Bailey
- AP Halestrap
- AP Halestrap
- AR Kimmel
- AS Greenberg
- AS Joshi
- AS Rambold
- AT Gatta
- B Hubbard
- B Jones
- B Kadereit
- B Liu
- B Wang
- B Zinker
- BA Hemmings
- Bao-Liang Song
- BB Adhyaru
- BB Chu
- BG Nordestgaard
- BM Castellano
- BR Cartwright
- BT Emmer
- BU Fitzky
- C Barlowe
- C Barlowe
- C Butkinaree
- C GĂĽrkan
- C Meyer
- C Muller
- C Romere
- C Sztalryd
- C Vrins
- C Wallace
- C Wu
- C Wu
- C Xie
- C Xie
- C Xie
- C Xie
- C Zhang
- CA Wassif
- CD Davidson
- CH Vite
- CJ Willer
- CJ Willer
- CK Barlowe
- CK Garcia
- CL Hyde
- CM Anderson
- CM Kazda
- CR Warren
- D Fotiadis
- D Frescas
- D Jansson
- D Klarin
- D Xu
- DA Gordon
- DA Gross
- DA Okar
- DG Hardie
- DJ Kazierad
- DJ Liu
- DM Erion
- DQH Wang
- DW Russell
- DW Zhang
- E Gonzalez
- E Li
- E Mossessova
- E Nisoli
- E Perland
- E Sezgin
- E Usifo
- EA Miller
- EF Rehberg
- EG Yoo
- ET Chouchani
- F Palmieri
- F Veglia
- F Wilfling
- FD Porter
- FD Porter
- FE Dewey
- G Annesi
- G Assmann
- G Di Paolo
- G Haemmerle
- G Haemmerle
- G He
- G Mithieux
- G Qiang
- G Schonfeld
- G Schonfeld
- G Weber
- G Zanetti
- G Zhou
- G Zuliani
- GA Gonzalez
- GA Graf
- GA Wyant
- GC Band
- GD Kolovou
- GT Shubeita
- H Doege
- H Doege
- H Hariri
- H Koepsell
- H Luo
- H Ou
- H Qian
- H Shimano
- H Tanaka
- H Wang
- H Wang
- H Wang
- H Yang
- HG Hers
- HH Hobbs
- HJ Kwon
- HJ Kwon
- HR Fernandez
- HR Waterham
- HV Lin
- I Gouni-Berthold
- I Surakka
- I Tabas
- I Tikhanovich
- IC Gelissen
- IJ Kurland
- IM Heid
- IY Benador
- IY Benador
- J Arias
- J Boren
- J Cho
- J Cho
- J Cohen
- J Dupuis
- J Fischer
- J Flannick
- J Girard
- J Gong
- J Han
- J Li
- J Magré
- J Martinez-Botas
- J Osuga
- J Radziuk
- J Sakai
- J Tao
- J Wei
- J Yu
- JA Olzmann
- JA Porter
- JAM Foody
- JC Chrivia
- JC Cohen
- JC Cohen
- JC Fromme
- JC Ulirsch
- JD Horton
- JD Horton
- JD Horton
- JD Mancias
- JD Mancias
- JE Ayala
- JG Granneman
- JH Exton
- JH Zhang
- JJ Bahl
- JJ Egan
- JL Best
- JL Brodsky
- JL Goldstein
- JL Goldstein
- JL Goldstein
- JL Goldstein
- JL Goldstein
- JL Goldstein
- JM Agati
- JM Lizcano
- JR Wetterau
- JS Kooner
- JS Striffler
- JS Weiss
- JY Altarejos
- JY Lee
- K Ben M’barek
- K Ekberg
- K Kotani
- K Lu
- K Milger
- K Musunuru
- K Nagao
- K Nakagawa
- K Ohashi
- K Ozaki
- K Schwarz
- K Sharabi
- K Tan
- KD Nguyen
- KE Berge
- KJ Roberg
- KM Szymanski
- L Carneiro
- L Chen
- L Ge
- L Ge
- L Liscum
- L Liu
- L Liu
- L Liu
- LA Lange
- LA Solt
- LA Weiss
- LC Bickford
- LF Reeskamp
- LF Soria
- Ligong Chen
- LJ Wang
- LJ Wang
- LL Listenberger
- LN Zhang
- LP Sun
- LP Sun
- LR Brunham
- M Abifadel
- M Arca
- M Bodzioch
- M Foretz
- M Futema
- M Gao
- M Garcia-Calvo
- M Ghosh
- M Harms
- M Hatting
- M Ishigami
- M Lu
- M Matsumoto
- M Mueckler
- M Puntoni
- M Rebsamen
- M Saberi
- M Vazquez-Chantada
- MA Austin
- MA Hediger
- MA Mitsche
- MA Ravier
- MA Welte
- MC Izar
- MC Moore
- MC Petersen
- MC Phillips
- MCS Lee
- MD Svoboda
- MF Hogan
- MJ Betz
- MJM Nowaczyk
- ML Wang
- MM Mihaylova
- MM Schumacher
- MM Schumacher
- MR Johnson
- MR Lang
- MRF Linton
- MS Bosner
- MS Brown
- MS Brown
- MS Brown
- MS Brown
- MS Brown
- MS Brown
- MS Perez-Poyato
- MS Sabatine
- MS Sandhu
- MT Maurano
- MT Vanier
- N Cano
- N Kory
- N Kory
- N Krahmer
- N Kumar
- N Rasouli
- NG Seidah
- NO Davidson
- NS Abul-Husn
- NW DiTullio
- P Anand
- P Bartuzi
- P Bianchi
- P Boström
- P Chakrabarti
- P Costet
- P Durrington
- P Hossain
- P Li
- P Puigserver
- P Roingeard
- P Zanoni
- PD van Poelje
- PJ Espenshade
- PM Lewis
- PR Shepherd
- PS Li
- Q Gu
- R Bartz
- R Dentin
- R Henderson
- R Khoriaty
- R Peng
- R Saxena
- R Schekman
- R Singh
- R Yan
- R Zechner
- R Zimmermann
- RA Rizza
- RA Screaton
- RC Andrews
- RE Temel
- RJ Perry
- RJ Shaw
- RK Hall
- RPS Kwok
- S Cermelli
- S Datta
- S Eliahu
- S Gandotra
- S Gill
- S Herzig
- S Huang
- S Kathiresan
- S Kathiresan
- S Kaushik
- S Kc
- S Lengacher
- S Ozeki
- S Raychaudhuri
- S Rust
- S Wang
- S Wang
- S Xu
- S Yue
- SA Boyadjiev
- SA Boyadjiev
- SB Widenmaier
- SG Pfisterer
- SG Young
- SG Young
- SH Koo
- SH Moon
- SJ Fisher
- SJ Pilkis
- SJ Pilkis
- SM Grundy
- SR Myers
- SY Jiang
- SY Jiang
- T Nagashima
- TA Lagace
- TB Nguyen
- TB Strøm
- TC Walther
- TJ Flynn
- TJ Hoffmann
- TM Teslovich
- TY Chang
- TY Li
- TY Liu
- V Bansal
- V Choudhary
- V Iacobazzi
- V Infantino
- V Malhotra
- V Mugoni
- V Rusu
- V Saini
- VA Lira
- VT Salo
- W Fei
- W Fei
- W Fei
- W Song
- WB Kannel
- WG Jerome
- X Bi
- X Gong
- X Hua
- X Huang
- X Li
- X Lu
- X Lu
- X Lu
- X Sui
- X Xiao
- X Yang
- X Zhang
- XG Zhu
- Xiao-Wei Chen
- Xun Huang
- XW Chen
- Y Guo
- Y Jo
- Y Lange
- Y Lange
- Y Lee
- Y Lee
- Y Liao
- Y Liu
- Y Miyanari
- Y Shimoni
- Y Tian
- Y Wang
- Y Wang
- Y Wang
- Y Wang
- Y Wang
- Y Wang
- Y Xiong
- Y Zhang
- Y Zhang
- Y Zhao
- Yan Wang
- Yiguo Wang
- YJ Wang
- YS Aulchenko
- YY Zhang
- Z Li
- Z Li
- Z Sun
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- Field of study