8 research outputs found
Expression, immunochemical characterization and localization of the Mycobacterium tuberculosis protein p27
- Publication venue
- 'Elsevier BV'
- Publication date
- 01/07/2005
- Field of study
International audienc
Variegate Porphyria in Western Europe: Identification of PPOX Gene Mutations in 104 Families, Extent of Allelic Heterogeneity, and Absence of Correlation between Phenotype and Type of Mutation
- Author
- Publication venue
- The American Society of Human Genetics
- Publication date
- 09/09/1999
- Field of study
Variegate porphyria (VP) is a low-penetrance, autosomal dominant disorder characterized clinically by skin lesions and acute neurovisceral attacks that occur separately or together. It results from partial deficiency of protoporphyrinogen oxidase encoded by the PPOX gene. VP is relatively common in South Africa, where most patients have inherited the same mutation in the PPOX gene from a common ancestor, but few families from elsewhere have been studied. Here we describe the molecular basis and clinical features of 108 unrelated patients from France and the United Kingdom. Mutations in the PPOX gene were identified by a combination of screening (denaturing gradient gel electrophoresis, heteroduplex analysis, or denaturing high-performance liquid chromatography) and direct automated sequencing of amplified genomic DNA. A total of 60 novel and 6 previously reported mutations (25 missense, 24 frameshift, 10 splice site, and 7 nonsense) were identified in 104 (96%) of these unrelated patients, together with 3 previously unrecognized single-nucleotide polymorphisms. VP is less heterogeneous than other acute porphyrias; 5 mutations were present in 28 (26%) of the families, whereas 47 mutations were restricted to 1 family; only 2 mutations were found in both countries. The pattern of clinical presentation was identical to that reported from South Africa and was not influenced by type of mutation. Our results define the molecular genetics of VP in western Europe, demonstrate its allelic heterogeneity outside South Africa, and show that genotype is not a significant determinant of mode of presentation
Synchronized cultures of a cell wall-less mutant of Chlamydomonas reinhardii
- Author
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- 01/01/1976
- Field of study
Exogenous histones and chloroplastic DNA function inChlamydomonas reinhardii
- Author
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- Field of study
Population changes induced in Candida albicans by nalidixic acid
- Author
- A. Puga
- A. Sarachek
- A. Sugino
- A.A. Luha
- A.W. Linnane
- C.A. Michels
- C.T. Wehr
- D.L. Busbee
- E.J. Kot
- E.W. McChesney
- F. Carnevali
- F. Ogur
- F. Sherman
- F.J. Gross
- G. Robreau
- G. Schatz
- G.C. Crumplin
- H. Fukuhara
- H. Lyman
- H. Shuman
- H.R. Mahler
- J.E. Germond
- J.F. deCastro
- L. Chao
- L.A. Grivell
- M. Gellert
- M. Huede
- P. Pienkos
- P.A. Whittaker
- P.B. Hamilton
- P.R. Vigier
- R.B. Helling
- R.J. Sobieski
- S. Nagai
- S. Yamabe
- S. Yamabe
- S. Yamabe
- S.E. Luria
- T.J. Lakshmi
- T.M. Cook
- W. Bandlow
- W.A. Gross
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- 01/01/1979
- Field of study
Characterization of chloroplast DNA in Chlamydomonas eugametos and C. moewusii and its inheritance in hybrid progeny
- Author
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- Field of study
Variegate Porphyria in Western Europe: Identification of PPOX Gene Mutations in 104 Families, Extent of Allelic Heterogeneity, and Absence of Correlation between Phenotype and Type of Mutation
- Author
- Andrew G. Roberts
- Anne-Marie Robreau
- Armas
- Brenner
- Cooper
- Corrigall
- Culbertson
- Da Silva
- Dailey
- Dailey
- De Rooij
- Dean
- Deybach
- Deybach
- Eales
- Elder
- Frank
- Frank
- Frank
- Frank
- Frank
- Frank
- Frank
- Frank
- George H. Elder
- Groenewald
- Hervé Puy
- Jean-Charles Deybach
- Jenkins
- Kauppinen
- Kirsch
- Kotze
- Lam
- Lam
- Lerman
- Long
- Meissner
- Mustajoki
- Myers
- Nishimura
- O'Donovan
- Poh-Fitzpatrick
- Puy
- Puy
- Rhian R. Morgan
- Roberts
- Roberts
- Rosipal
- Sharon D. Whatley
- Taketani
- Tchernitchko
- Thompson
- Tian
- Warnich
- Whatley
- Yves Nordmann
- Publication venue
- 'University of Chicago Press'
- Publication date
- Field of study
Listing of Protein Spectra
- Author
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- T Vant-Riet
- T Walsh
- T Wieland
- T Yagi
- T Yamamoto
- T Yamanaka
- T Yamanaka
- T Yamanaka
- T Yamanaka
- T Yamanaka
- T Yonetani
- T Yonetani
- T Yonetani
- T Yonetani
- T Yonetani
- T Yoshida
- T Yoshida
- T Yoshida
- T Yoshinaga
- T Yubisui
- T Yuzuriha
- TA Abalikhina
- TA Hoeven Der
- TA Hoeven Der
- TA Oshino
- TB Eronina
- TC Strekas
- TE Hardingham
- TE King
- TE King
- TE Meyer
- TG Ebrey
- TH Cromartie
- TH Cromartie
- TH Cromatrie
- TH Fife
- TH Finlay
- TH Grove
- TH Ji
- TL Glass
- TL Trosper
- TN Akopyan
- TN Bruzhinina
- TS Chang
- TS Srivasta
- TT Lee
- TW Bresters
- TW Brewster
- TW Kwon
- TW Kwon
- TW Seale
- TW Szezepkowski
- TY Shih
- TY Yang
- U Branzoli
- U Branzoli
- U Fischer
- U Fischer
- U Menge
- U Shimada
- U Weser
- U Weser
- U Weser
- U Weser
- U Weser
- U Weser
- U Weser
- UE Handschin
- V Gonzales-Prevatt
- V Harisdangkul
- V Krasnobajeu
- V Larraga
- V Massey
- V Massey
- V Redkar
- V Scardi
- VA Eterovic
- VA Leonenko
- VA Rasskazov
- VB Yanushauskaite
- VF Kalb
- VG Neef
- VG Tumanyan
- VI Ivanov
- VK Shah
- VM Kochkina
- VP Miroshnichenko
- VP Pigiet
- VP Piriet
- VR Naik
- VS Sharma
- VS Zolotova
- VT Aikazyan
- VT Aikazyan
- VT Aikazyan
- VV Mesyanzhinov
- VV Moslov
- W Ardelt
- W Birchmeier
- W Birchmeier
- W Byers
- W Duntze
- W Junge
- W Kufer
- W Kunzer
- W Leicht
- W Levin
- W Levin
- W Levin
- W Mori
- W Scheler
- W Sebald
- W Strider
- W Tischer
- WA Bulen
- WA Robison
- WB Im
- WB Southerland
- WB Whitman
- WB Whitten
- WC Mccubbin
- WC Merrick
- WD Behnske
- WD Hewson
- WD Hewson
- WD Horrocks
- WF Cleere
- WF Line
- WF Swain
- WFHM Mommaerts
- WG Zumft
- WG Zumft
- WG Zumft
- WH Bannister
- WH Bannister
- WH Bishop
- WH Wu
- WJ Chang
- WJ Grip
- WJ Haas
- WJ Haas
- WJ Ray
- WJ Wallace
- WJ Wallace
- WJ Wallace
- WK Liu
- WL Hughes
- WL Muth
- WM Awad
- WM Moore
- WR Browett
- WR Carper
- WR Fisher
- WR Heineman
- WR Holmquist
- WR Melander
- WR Richards
- WR Richards
- WR Veatch
- WR Waud
- WR Waud
- WS Hancock
- WS Pierpoint
- WS Pierpoint
- WT Butler
- WT Morgan
- WT Morgan
- WT Perrie
- WV Sweeney
- WV Sweeney
- WV Sweeney
- WW Fish
- WW Ward
- WY Huang
- Y
- Y Atsuta
- Y Atsuta
- Y Beaux
- Y Beuzard
- Y Degani
- Y Fukumori
- Y Furusawa
- Y Hatefi
- Y Hayashi
- Y Hayashi
- Y Hayashi
- Y Henry
- Y Henry
- Y Ichikawa
- Y Igarashi
- Y Imai
- Y Imai
- Y Imai
- Y Imai
- Y Imai
- Y Ishida
- Y Itoh
- Y Kanai
- Y Kato
- Y Kurono
- Y Matsushita
- Y Miyake
- Y Morikawa
- Y Morino
- Y Morino
- Y Morino
- Y Morita
- Y Morita
- Y Motokawa
- Y Muto
- Y Nagi
- Y Nakagawa
- Y Nakagawa
- Y Nakamura
- Y Nisimoto
- Y Nisimoto
- Y Ohta
- Y Ohta
- Y Ohta
- Y Ohta
- Y Orii
- Y Orii
- Y Orii
- Y Ota
- Y Peled
- Y Sakagami
- Y Sakaki
- Y Sanada
- Y Sawada
- Y Schechter
- Y Schechter
- Y Seki
- Y Shichida
- Y Shioi
- Y Shioi
- Y Shioi
- Y Stefanovsky
- Y Sugimura
- Y Sugimura
- Y Sugita
- Y Takahara
- Y Tamura
- Y Tanagida
- Y Tani
- Y Tani
- Y Tominaga
- Y Tominatsu
- Y Tominatsu
- Y Watanabe
- Y Yamasai
- Y Yasukochi
- Y Yasukochi
- Y Yoshida
- Y Yoshida
- Y Yoshida
- Y. Miyake T. Abe, and T. Yamano, in International Symposium on Oxidases and Related Redox Systems
- YA Sharonov
- YA Sharonov
- YA Sharonov
- YE Erokhin
- YJ Kang
- YK Turakulov
- YK Turakulov
- YK Yip
- YP Lin
- YP Meyer
- YP Meyer
- YP Meyer
- YP Myer
- YS Choong
- YS Choong
- YV Peive
- YV Peive
- YV Pieve
- YV Shtamm
- YY Vasilev
- YYH Chao
- Z Bradic
- Z Gasyna
- Z Vogel
- Z Zak
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- 01/01/1984
- Field of study