5 research outputs found
Germline selection shapes human mitochondrial DNA diversity.
- Author
- Abbs S
- Abulhoul L
- Adlard J
- Ahmed M
- Ahmed M
- Aitman TJ
- Aitman TJ
- Alachkar H
- Allen HL
- Allsup DJ
- Ancliff P
- Antrobus R
- Armstrong R
- Arno G
- Arno G
- Ashford S
- Ashford S
- Attwood A
- Aurora P
- Babbs C
- Bakchoul T
- Banka S
- Bariana T
- Baxendale HE
- Beales PL
- Beales PL
- Bennett DL
- Bennett DL
- Bierzynska A
- Biss T
- Bitner-Glindzicz MAK
- Bitner-Glindzicz MAK
- Black GC
- Black GC
- Bleda M
- Bockenhauer D
- Bogaard H
- Boyce S
- Bradley JR
- Brennan P
- Brennan P
- Brennan P
- Brewer C
- Brod NC
- Brown M
- Browning AC
- Browning MJ
- Buchan RJ
- Buckland MS
- Bueser T
- Bueser T
- Burn J
- Burrows N
- Campbell C
- Carr-White G
- Carss K
- Carss K
- Casey R
- Caulfield M
- Caulfield M
- Chambers J
- Chan MMY
- Cheng F
- Chinnery PF
- Chinnery PF
- Chinnery PF
- Chitre M
- Church C
- Clayton-Smith J
- Cleary M
- Coghlan G
- Colby E
- Cole TRP
- Collins J
- Collins PW
- Compton CJ
- Condliffe R
- Cook HT
- Cook S
- Cooper N
- Corris P
- Crisp-Hihn A
- Curry NS
- Danesino C
- Daniels MJ
- Dattani M
- Davis J
- De Soyza A
- Deevi SVV
- Dent T
- Deshpande C
- Dewhurst EF
- Dewhurst EF
- Dewhurst EF
- Dewhurst EF
- Dis GP-R
- Dis NIHRB-R
- Dixon PH
- Diz CB
- Douzgou S
- Downes K
- Drazyk AM
- Dutt T
- Edgar JDM
- Edwards K
- Egner W
- Ekani MN
- Elliott P
- Elliott P
- Erber WN
- Erwood M
- Erwood M
- Erwood M
- Estiu MC
- Evans DG
- Evans G
- Everington T
- Eyries M
- Fassihi H
- Favier R
- Flinter FA
- Flinter FA
- Floto RA
- Floto RA
- Fowler T
- Fox J
- Frary AJ
- French CE
- French CE
- Freson K
- Gale DP
- Gale DP
- Gall H
- Ganesan V
- Gattens M
- Ghofrani H-A
- Gibbs JSR
- Gibson K
- Gilmour KC
- Girerd B
- Goddard S
- Gomez K
- Gordins P
- Gosal D
- Graf S
- Graham J
- Greene D
- Greenhalgh L
- Gresele P
- Griffiths P
- Grigoriadou S
- Grozeva D
- Gurnell M
- Hackett S
- Hadinnapola C
- Hague R
- Hague WM
- Haimel M
- Hall M
- Hanson HL
- Haque E
- Harkness K
- Harper AR
- Harris C
- Hart D
- Hassan A
- Hayman G
- Herwadkar A
- Hoffman J
- Holden S
- Holden S
- Horvath R
- Horvath R
- Horvath R
- Houlden H
- Houlden H
- Houweling A
- Howard LS
- Hu F
- Hudson G
- Huissoon AP
- Humbert M
- Irving M
- Irving M
- Izatt L
- Izatt L
- James R
- Johnson SA
- Jolles S
- Jolley J
- Josifova D
- Jurkute N
- Kazkaz H
- Kazmi R
- Kelleher P
- Kelly AM
- Kelsall W
- Keogh MJ
- Kiely DG
- Kingston N
- Koelling N
- Kovacs G
- Koziell A
- Koziell A
- Kuijpers TW
- Kumar A
- Kumararatne D
- Kurian MA
- Laffan MA
- Lalloo F
- Lambert M
- Lawrie A
- Layton DM
- Lentaigne C
- Lester T
- Levine AP
- Linger R
- Longhurst H
- Lorenzo LE
- Louka E
- Lyons PA
- Madan B
- Maher ER
- Maher ER
- Maimaris J
- Malka S
- Mangles S
- Mapeta R
- Marchbank KJ
- Marks S
- Markus HS
- Markus HS
- Marschall H-U
- Marshall A
- Martin J
- Martin J
- Mathias M
- Matthews E
- Maxwell H
- McAlinden P
- McCarthy MI
- Meacham S
- Mead AJ
- Mehta S
- Mehta S
- Michaelides M
- Michaelides M
- Millar C
- Mohammed SN
- Moledina S
- Montani D
- Moore AT
- Moore AT
- Morrell NW
- Morrell NW
- Mozere M
- Muir KW
- Mumford AD
- Nemeth AH
- Newman WG
- Newman WG
- Newnham M
- Noorani S
- Noordegraaf AV
- O'Sullivan J
- Obaji S
- Okoli S
- Olschewski A
- Olschewski H
- Ong KR
- Ormondroyd E
- Ouwehand WH
- Ouwehand WH
- Palles C
- Papadia S
- Papadia S
- Park S-M
- Parry D
- Patel S
- Peacock A
- Pearce S
- Peerlinck K
- Penkett CJ
- Penkett CJ
- Pepke-Zaba J
- Pilkington C
- Poole KES
- Pyle A
- Quinton R
- Rahman S
- Rao A
- Raymond FL
- Raymond FL
- Rayner-Matthews PJ
- Rendon A
- Rendon A
- Renton T
- Rice ASC
- Richter A
- Robert L
- Roberts I
- Roberts I
- Rose SJ
- Ross RVM
- Ross-Russell R
- Roughley C
- Roy NB
- Roy NB
- Ruddy DM
- Sadeghi-Alavijeh O
- Saleem M
- Samarghitean C
- Samarghitean C
- Sanchis-Juan A
- Sargur RB
- Sarkany RN
- Satchell S
- Savic S
- Sayer G
- Sayer JA
- Sayer JA
- Scelsi L
- Schaefer AM
- Schulman S
- Scott R
- Scully M
- Searle C
- Seeger W
- Sen A
- Sewell WAC
- Shah N
- Shamardina O
- Shapiro SE
- Shaw AC
- Sibson K
- Side L
- Simeoni I
- Simeoni I
- Simeoni I
- Simpson M
- Sims MC
- Sivapalaratnam S
- Smedley D
- Smith KGC
- Smith KGC
- Smith KR
- Smith KR
- Snape K
- Soubrier F
- Spasic-Boskovic O
- Staines S
- Staples E
- Staples E
- Stark H
- Stephens J
- Stirrups KE
- Stirrups KE
- Suntharalingam J
- Swietlik E
- Syrris P
- Tait RC
- Talks K
- Tan RYY
- Taylor J
- Taylor JC
- Taylor JC
- Thaventhiran JE
- Themistocleous AC
- Thomas D
- Thomas E
- Thomas MJ
- Thomson K
- Thrasher AJ
- Thys C
- Tischkowitz M
- Titterton C
- Toh C-H
- Tomlinson IP
- Toshner M
- Traylor M
- Treacy C
- Trembath R
- Tuna S
- Tuna S
- Turro E
- Twiss P
- Vale T
- Van Geet C
- Vandersteen AM
- Vazquez-Lopez M
- von Ziegenweidt J
- Wagner A
- Waisfisz Q
- Walker SM
- Ware JS
- Watkins H
- Watkins H
- Watt C
- Webster AR
- Webster AR
- Webster AR
- Wedderburn L
- Wei W
- Wei W
- Wessels J
- Westbury SK
- Westwood J-P
- Wharton J
- Whitehorn D
- Whitworth J
- Wilkie AOM
- Wilkie AOM
- Wilkins MR
- Williamson C
- Williamson C
- Wilson BT
- Wong EKS
- Wood Y
- Woods CG
- Woodward E
- Wort SJ
- Worth A
- Wright M
- Yates K
- Yates K
- Yong PFK
- Yu P
- Yu-Wai-Man P
- Yu-Wai-Man P
- Publication venue
- Science
- Publication date
- 01/01/2019
- Field of study
Approximately 2.4% of the human mitochondrial DNA (mtDNA) genome exhibits common homoplasmic genetic variation. We analyzed 12,975 whole-genome sequences to show that 45.1% of individuals from 1526 mother-offspring pairs harbor a mixed population of mtDNA (heteroplasmy), but the propensity for maternal transmission differs across the mitochondrial genome. Over one generation, we observed selection both for and against variants in specific genomic regions; known variants were more likely to be transmitted than previously unknown variants. However, new heteroplasmies were more likely to match the nuclear genetic ancestry as opposed to the ancestry of the mitochondrial genome on which the mutations occurred, validating our findings in 40,325 individuals. Thus, human mtDNA at the population level is shaped by selective forces within the female germ line under nuclear genetic control, which ensures consistency between the two independent genetic lineages.NIHR, Wellcome Trust, MRC, Genomics Englan
Dystrophic calcification as a cause for non healing leg ulcers
- Author
- Publication venue
- 'Wiley'
- Publication date
- Field of study
Morphologie einschließlich Anatomie
- Author
- A Favard
- A Frey-Wyssling
- A Hejnowicz
- A Lance
- A Lance
- A Narducci
- AP Mani
- AT Natarajam
- B Durand
- Ball
- Barnard
- BD Webster
- BE Murray
- Bersillon
- BF Slade
- BM Johri
- BM Johri
- BM Johri
- BN Mulay
- C Favarger
- C Sun
- C Venkatesh
- C Wardlaw
- Carlquist
- Codaccioni
- DW Bierhorst
- E Balfour
- E Cutter
- E Werth
- E-M Kranich
- E. K. ALlen
- Eckardt
- Einfellner
- EK Kalela
- F Berger
- F-J Meyer
- FA Clowes
- G Douglas
- G Dunoyer Segonzac
- G Erdtmann
- G Scheuerpflug
- G Schleuss
- GO Alvarez
- GP Majumdar
- H Bach
- H Guttenberg
- H Guttenberg
- H Schaeppi
- H Weber
- Hagemann
- Hartl
- Heikurainen
- HF Neubauer
- J Augier
- J Helm
- J Lemli
- J Mourre
- J Vuorinen
- JF Leroy
- JR Reeder
- JW Hardin
- K Subramanyam
- K Wöhrmann
- K-H Voelter
- L Fridvalszky
- M Chadefaud
- M Champagnat
- M Ernst-Schwarzenbach
- M Hadjmoustapha
- M Hanf
- M Hasman
- M Kumazawa
- M Reboulet
- M Steiner
- M-E Scheeffer-Pomplitz
- MF Moseley Jr
- MM Griffith
- MP Denne
- MV Raju
- MW Bannan
- N Arora
- N Boke
- N Poux
- NC Nair
- NC Nair
- NC Nair
- NC Nair
- Nozu
- P Peisl
- P Sensarma
- PA Baranov
- PE Nelson
- Phelouzat
- PK Sanyal
- R Eicke
- R Grill
- R Lemesle
- R Licitis-Lindbergs
- R Nozeran
- R Pomplitz
- R Rivieres
- R Rodin
- RA Popham
- RC Lommasson
- RH Goodwin
- RH Miller
- RM Straw
- RN Kapil
- Roth
- S Bhambie
- S Danert
- S Maheshwari
- S Sarkany
- Skvortzova N. T
- TA Rao
- Theodorov Al., M. Kirpicznikov U. Z. Artjuschenko4(3) Akademie Wiss. U
- TR Pray
- U Hamann
- VJ Cheadle
- VS Rao
- W Mullenders
- W Schultze-Motel
- WA Jensen
- Wakabayashi
- WE Court
- Weberling
- WH Wagner
- WP Jacobs
- Y Jacquety
- YS Rao
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- 01/01/1959
- Field of study
Allergic Drug Responses - Mechanisms and Unsolved Problems
- Author
- Abelson PH
- Ackroyd JF
- Alarcon-Segovia D.
- Alexander HL
- Batchelor F. R.
- Benacerraf B.
- Blomgren S. A.
- Bole G. G.
- Brasch RC.
- Bredt J
- Cannat A.
- Cochrane C G
- Dacie JV
- Davidson C. S.
- De Weck A. L.
- De Weck A. L.
- De Weck AL
- Dewdney J. M.
- Dubois EL
- Dujovne C. A.
- Dursch F
- Eisen HN
- Eisen S. A.
- Evans DA
- Fellner M. J.
- Fellner M. J.
- Fellner M. J.
- Frey J. R.
- Gill FA
- Girard JP
- Halpern BN
- Hamburger RN
- Hawkins D.
- Hirschhom K.
- Holley HL
- Huguley CM
- Itkin IH
- James L. P.
- Johnson D. A.
- Knicker W. T.
- Knudsen E. T.
- Knudsen E. T.
- Krapin D
- Kunz M. L.
- Landsteiner K
- Leemann W.
- Leskowitz S.
- Levine B. B.
- Lichtenstein L. M.
- Mathews KP
- Meulenhoff JS
- Mills JA
- Minden P.
- Moeschlin S
- Mota I
- Paiker C W
- Parkei C. W
- Parker C W
- Parker C. W.
- Parker C. W.
- Parker C. W.
- Parker CW
- Parker CW
- Parker CW
- Parker CW
- Paul W. E.
- Petz L. D.
- Pinckard R. N.
- Plescia O. J.
- Rajewsky K.
- Redmond A. P.
- Reisman R. E.
- Rockoff S. D.
- Rodgers HJ
- Russell A. S.
- Ryan J. J.
- Saltzstein S. L.
- Samter M.
- Sapira JD
- Sarkany I
- Schierman L. W.
- Schneider C. H.
- Schneider C. H.
- Schneider C. H.
- Scholand J. F.
- Schttppel R.
- Schwartz MA
- Schwartz R. H.
- Shulman NR
- Simpson D. G.
- Smith J. B.
- Sorrell T.
- Stewart GT
- Strominger J. L.
- Tan EM
- Thakkar A. L.
- Thiel J. A.
- Tompsett RG
- Van Arsdel P. P.
- Van Dellen R. G.
- Vane JR
- Voss H. E.
- Wagner E. S.
- Weiner L. M.
- Yurchak A. M.
- Zelman S
- Zimmerman HJ
- Publication venue
- 'Informa UK Limited'
- Publication date
- Field of study
Whole-genome sequencing of patients with rare diseases in a national health system
- Author
- Abbs S
- Abulhoul L
- Adlard J
- Ahmed M
- Aitman TJ
- Aitman TJ
- Alachkar H
- Allen HL
- Allen HL
- Allsup DJ
- Almeida-King J
- Ancliff P
- Antrobus R
- Armstrong R
- Arno G
- Ashford S
- Ashford S
- Astle WJ
- Astle WJ
- Attwood A
- Aurora P
- Babbs C
- Bacchelli C
- Bakchoul T
- Banka S
- Bariana T
- Barwell J
- Batista J
- Baxendale HE
- Beales PL
- Bennett DL
- Bennett DL
- Bentley DR
- Bentley DR
- Bierzynska A
- Biss T
- Bitner-Glindzicz MAK
- Black GC
- Bleda M
- Blesneac I
- Bockenhauer D
- Bogaard H
- Bourne CJ
- Boyce S
- Bradley JR
- Bradley JR
- Bragin E
- Breen G
- Brennan P
- Brewer C
- Brod NC
- Brown M
- Browning AC
- Browning MJ
- Buchan RJ
- Buckland MS
- Bueser T
- Burn J
- Burns SO
- Burren OS
- Burren OS
- Burrows N
- Calleja P
- Calleja P
- Campbell C
- Carr-White G
- Carss K
- Carss K
- Casey R
- Castello IM
- Caulfield MJ
- Caulfield MJ
- Chambers J
- Chambers J
- Chan MMY
- Cheah C
- Cheng F
- Chinnery PF
- Chinnery PF
- Chitre M
- Christian MT
- Church C
- Clayton-Smith J
- Cleary M
- Coghlan G
- Colby E
- Cole TRP
- Collins J
- Collins PW
- Colombo C
- Compton CJ
- Condliffe R
- Cook HT
- Cook S
- Cooper N
- Corris PA
- Cunningham F
- Curry NS
- Cutler AJ
- Daniels MJ
- Dattani M
- Daugherty LC
- Davis J
- De Soyza A
- Deevi SVV
- Deevi SVV
- Dent T
- Deshpande C
- Dewhurst EF
- Dixon PH
- Dixon PH
- Diz CB
- Douzgou S
- Downes K
- Downes K
- Drazyk AM
- Drewe E
- Duarte D
- Dutt T
- Edgar JDM
- Edwards K
- Egner W
- Ekani MN
- Elliott P
- Erber WN
- Erwood M
- Estiu MC
- Evans DG
- Evans G
- Everington T
- Eyries M
- Fassihi H
- Favier R
- Findhammer J
- Fletcher D
- Flinter FA
- Floto RA
- Fowler T
- Fox J
- Frary AJ
- French CE
- Freson K
- Freson K
- Frontini M
- Frontini M
- Furnell A
- Gale DP
- Gale DP
- Gall H
- Ganesan V
- Gattens M
- Geet CV
- Geoghegan C
- Gerighty TSA
- Gharavi AG
- Ghio S
- Ghofrani H-A
- Gibbs JSR
- Gibson K
- Gilmour KC
- Girerd B
- Gleadall NS
- Goddard S
- Goldstein DB
- Gomez K
- Gordins P
- Gosal D
- Graf S
- Graf S
- Graham J
- Grassi L
- Greene D
- Greene D
- Greenhalgh L
- Greinacher A
- Gresele P
- Griffiths P
- Grigoriadou S
- Grocock RJ
- Grozeva D
- Gurnell M
- Hackett S
- Hadinnapola C
- Hague R
- Hague WM
- Haimel M
- Haimel M
- Hall M
- Hanson HL
- Haque E
- Harkness K
- Harper AR
- Harris CL
- Hart D
- Hassan A
- Hayman G
- Henderson A
- Herwadkar A
- Hoffman J
- Holden S
- Horvath R
- Houlden H
- Houweling AC
- Howard LS
- Hu F
- Hudson G
- Hughes J
- Huissoon AP
- Humbert M
- Humphray S
- Humphray S
- Hunter S
- Hurles M
- Irving M
- Izatt L
- James R
- James R
- Johnson SA
- Jolles S
- Jolley J
- Josifova D
- Jurkute N
- Karten J
- Karten T
- Kasanicki MA
- Kazkaz H
- Kazmi R
- Kelleher P
- Kelly AM
- Kelsall W
- Kempster C
- Kiely DG
- Kingston N
- Kingston N
- Klima R
- Koelling N
- Kostadima M
- Kovacs G
- Koziell A
- Koziell A
- Kreuzhuber R
- Kuijpers TW
- Kumar A
- Kumararatne D
- Kurian MA
- Laffan MA
- Laffan MA
- Lalloo F
- Lambert M
- Lawrie A
- Layton DM
- Lench N
- Lentaigne C
- Lester T
- Levine AP
- Levine AP
- Linger R
- Longhurst H
- Lorenzo LE
- Louka E
- Lyons PA
- Machado RD
- MacKenzie Ross RV
- Madan B
- Maher ER
- Maher ER
- Maimaris J
- Malka S
- Mangles S
- Mapeta R
- Mapeta R
- Marchbank KJ
- Marks S
- Markus HS
- Markus HS
- Marschall H-U
- Marshall A
- Martin J
- Mathias M
- Matthews E
- Maxwell H
- McAlinden P
- McCarthy MI
- McKinney H
- McMahon A
- Meacham S
- Mead AJ
- Megy K
- Megy K
- Mehta SG
- Michaelides M
- Millar C
- Mohammed SN
- Moledina S
- Montani D
- Moore AT
- Morales J
- Morales J
- Morrell NW
- Morrell NW
- Mozere M
- Muir KW
- Mumford AD
- Mumford AD
- Nemeth AH
- Newman WG
- Newnham M
- Noorani S
- Noordegraaf AV
- Nurden P
- O'Sullivan J
- Obaji S
- Odhams C
- Okoli S
- Olschewski A
- Olschewski H
- Ong KR
- Oram SH
- Ormondroyd E
- Ormondroyd E
- Ouwehand WH
- Ouwehand WH
- Palles C
- Papadia S
- Park S-M
- Parry D
- Patel S
- Paterson J
- Peacock A
- Pearce SH
- Peden J
- Peerlinck K
- Penkett CJ
- Penkett CJ
- Pepke-Zaba J
- Petersen R
- Pilkington C
- Poole KES
- Prathalingam R
- Psaila B
- Pyle A
- Quinton R
- Rahman S
- Rankin S
- Rankin S
- Rao A
- Raymond FL
- Raymond FL
- Rayner-Matthews PJ
- Rees C
- Rendon A
- Rendon A
- Renton T
- Rhodes CJ
- Rice ASC
- Richardson S
- Richardson S
- Richter A
- Robert L
- Roberts I
- Roberts I
- Rogers A
- Rose SJ
- Ross-Russell R
- Roughley C
- Roy NBA
- Roy NBA
- Ruddy DM
- Sadeghi-Alavijeh O
- Saleem MA
- Saleem MA
- Samani N
- Samarghitean C
- Sanchis-Juan A
- Sanchis-Juan A
- Sargur RB
- Sarkany RN
- Satchell S
- Savic S
- Sayer G
- Sayer JA
- Scelsi L
- Schaefer AM
- Schulman S
- Scott R
- Scully M
- Searle C
- Seeger W
- Sen A
- Sewell WAC
- Seyres D
- Shah N
- Shamardina O
- Shamardina O
- Shapiro SE
- Shaw AC
- Short PJ
- Sibson K
- Side L
- Simeoni I
- Simpson MA
- Sims MC
- Sivapalaratnam S
- Smedley D
- Smith KGC
- Smith KGC
- Smith KR
- Snape K
- Soranzo N
- Soubrier F
- Southgate L
- Spasic-Boskovic O
- Staines S
- Staples E
- Stark H
- Stark H
- Stephens J
- Stephens J
- Steward C
- Stirrups KE
- Stirrups KE
- Stuckey A
- Suntharalingam J
- Swietlik EM
- Syrris P
- Tait RC
- Talks K
- Tan RYY
- Tan RYY
- Tate K
- Taylor JC
- Taylor JM
- Thaventhiran JE
- Themistocleous AC
- Themistocleous AC
- Thomas D
- Thomas E
- Thomas MJ
- Thomas P
- Thomson K
- Thrasher AJ
- Thrasher AJ
- Threadgold G
- Thys C
- Thys C
- Tilly T
- Tischkowitz M
- Titterton C
- Todd JA
- Toh C-H
- Tolhuis B
- Tomlinson IP
- Toshner M
- Traylor M
- Treacy C
- Treadaway P
- Trembath R
- Tuna S
- Tuna S
- Turek W
- Turro E
- Turro E
- Twiss P
- Vale T
- Vandekuilen M
- Vandersteen AM
- Vazquez-Lopez M
- von Ziegenweidt J
- Wagner A
- Waisfisz Q
- Walker N
- Walker N
- Walker SM
- Walter K
- Ware JS
- Watkins H
- Watkins H
- Watt C
- Webster AR
- Webster AR
- Wedderburn L
- Wei W
- Welch SB
- Wessels J
- Westbury SK
- Westwood J-P
- Wharton J
- Whitehorn D
- Whitworth J
- Whitworth J
- Wilkie AOM
- Wilkins MR
- Wilkins MR
- Williamson C
- Williamson C
- Wilson BT
- Wong EKS
- Wood N
- Wood Y
- Woods CG
- Woodward ER
- Wort SJ
- Worth A
- Wright M
- Yates K
- Yong PFK
- Young T
- Yu P
- Yu-Wai-Man P
- Zlamalova E
- Zuydam N
- Publication venue
- Nature Publishing Group
- Publication date
- 01/01/2020
- Field of study