10 research outputs found
Nighttime child care: inadequate sudden infant death syndrome risk factor knowledge, practice, and policies
- Publication venue
- Health Sciences Research Commons
- Publication date
- 01/01/2003
- Field of study
Congenital central hypoventilation syndrome
- Author
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- Field of study
Mutations in MYO1H cause a recessive form of central hypoventilation with autonomic dysfunction
- Author
- Publication venue
- 'BMJ'
- Publication date
- 01/11/2017
- Field of study
BACKGROUND: Congenital central hypoventilation syndrome (CCHS) is a rare life-threatening disorder of respiratory and autonomic regulation. It is classically caused by dominant mutations in the transcription factor PHOX2B. The objective of the present study was to identify the molecular cause of a recessive form of central hypoventilation with autonomic dysfunction. METHODS: Here, we used homozygosity mapping and whole-genome sequencing in a consanguineous family with CCHS in combination with functional analyses in CRISPR/Cas9 engineered mice. RESULTS: We report on a consanguineous family with three affected children, all tested PHOX2B mutation negative, presenting with alveolar hypoventilation and symptoms of autonomic dysregulation. Whole-genome sequencing revealed a homozygous frameshift mutation in exon 25 of the MYO1H gene (c.2524_2524delA) segregating with the phenotype in the family. MYO1H encodes for the unconventional myosin IH, which is thought to function as a motor protein in intracellular transport and vesicle trafficking. We show that Myo1h is broadly expressed in the mouse lower medulla, including the CO2-sensitive Phox2b+ retrotrapezoid neurons. To test the pathogenicity of the variant, we engineered two Myo1h mutant mouse strains: the first strain (Myo1h*) resembling the human mutation and the second being a full knock-out (Myo1h(FS) ). Whole-body plethysmography studies in Myo1h* newborns with the re-engineered human mutation revealed hypoventilation and a blunted response to CO2, recapitulating the breathing phenotype observed in the kindred. CONCLUSIONS: Our results identify MYO1H as an important gene in CO2 sensitivity and respiratory control and as the cause of a rare recessive form of congenital central hypoventilation
Recommended from our members
Cardiorespiratory Physiological Trajectories in Extremely Preterm Infants
- Author
- Publication venue
- American Thoracic Society
- Publication date
- 01/05/2023
- Field of study
Neonatal Congenital Central Hypoventilation Syndrome: Why We Should not Sleep on it. Literature Review of Forty-two Neonatal Onset Cases
- Author
- Al Dakhoul S.
- Amiel J.
- Amiel J.
- Amimoto Y.
- Antic N.A.
- Arai H.
- Bachetti T.
- Bajaj R.
- Benailly H.K.
- Byers H.M.
- Bygarski E.
- Cai J.
- Cai J.
- Cain J.T.
- Cardani S.
- Chen M.L.
- Choi J.H.
- Chuen-im P.
- Croaker G.D.
- Dauger S.
- De Montpellier S.
- Degl’Innocenti D.
- Di Lascio S.
- Di Lascio S.
- Di Zanni E.
- Diep B.
- Doherty L.S.
- Dosier L.B.M.
- Esteso Orduña B.
- Farina M.I.
- Faure C.
- Fernández R.M.
- Flaminia Bardanzellu
- Fleming P.J.
- Fu C
- García Teresa M.A.
- Goldberg D.S.
- Gozal D.
- Gronli J.O.
- Haddad G.G.
- Harper R.M.
- Hennewig U.
- Hopkins E.
- Huang L.C.
- Jaiyeola P.
- Jennings L.J.
- Jones K.L.
- Kasi A.S.
- Katwa U.
- Khan A.
- Kincaid P.K.
- Klaskova E.
- Korenberg J.R.
- Kumar R.
- Kumar R.
- Li A.
- Liu K.S.
- Ljubic K.
- Loghmanee D.A.
- Lombardo R.C.
- Low K.J.
- Macey P.M.
- Maloney M.A.
- Marazita M.L.
- Maria Antonietta Marcialis
- Maria Cristina Pintus
- Matera I.
- Meguro T.
- Mehta V.J.
- Mellins R.B.
- Minutillo C.
- Miura Y.
- Moreau F.
- Moreira T.S.
- Nattie E.
- Nobuta H.
- O’Brien L.M.
- Parodi S.
- Paton J.Y.
- Patwari P.P.
- Pine D.S.
- Rabin J.S.
- Raghvendra Tyagi S.
- Ramesh P.
- Rojnueangnit K.
- Sandoval R.L.
- Sasaki A.
- Schirwani S.
- Seijas-Gomez R.
- Shimokaze T.
- Silvestri J.M.
- Silvestri J.M.
- Sinclair R.
- Sivertsen W
- Souza R.T.
- Spengler C.M.
- Spielmann M.
- Straus C.
- Szymońska I.
- Teppema L.J.
- Todd E.S.
- Tomycz N.D.
- Trang H.
- Trang H.
- Trang H.
- Trivedi A.
- Trochet D.
- Trochet D.
- Trochet D.
- Uekita T.
- Unger S.A.
- van de Borne P.
- Vassilios Fanos
- Veasey S.C.
- Ventura F.
- Viemari J.C.
- Wang A.
- Wang T.C.
- Weese-Mayer D.E.
- Weese-Mayer D.E.
- Weese-Mayer D.E.
- Weese-Mayer D.E.
- Weese-Mayer D.E.
- Weese-Mayer DR
- Williams R.H.
- Zaidi S.
- Zelko F.A.
- Publication venue
- 'Bentham Science Publishers Ltd.'
- Publication date
- Field of study
Negative extrathoracic pressure ventilation in central hypoventilation syndrome.
- Author
- Publication venue
- 'BMJ'
- Publication date
- Field of study
Peripherally inserted central catheters and the incidence of candidal sepsis in VLBW and ELBW infants: is sepsis increased?
- Author
- A.A. Fanaroff
- A.H. Sohn
- B.J. Stoll
- B.J. Stoll
- Bin Xia
- C.M. Bendel
- C.M. Healy
- D. Kaufman
- D.E. Weese-Mayer
- D.K. Benjamin Jr
- D.K. Benjamin Jr
- D.S. Loeff
- De-Zhi Mu
- E.H. Kossoff
- I.R. Makhoul
- J. Klein
- J. Rello
- J.E. Baley
- J.E. Baley
- J.L. Rowen
- Jun Tang
- L. Saiman
- M. Durand
- P. Pronovost
- P.A. Cairns
- R.G. Faix
- W.J. Soong
- Xi-Hong Li
- Y.C. Huang
- Ying Xiong
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- Field of study
Molecular biology of neuroblastoma
- Author
- A. Nakagawara
- A. Nakagawara
- A. Nakagawara
- A. Schramm
- A. Valent
- C. Guo
- D.E. Weese-Mayer
- D.L. Bruno
- E. Grau
- E.F. Attiyeh
- F. Martínez
- G. Cecchetto
- G. Schleiermacher
- G. Schleiermacher
- G.M. Brodeur
- G.M. Brodeur
- G.M. Brodeur
- H. Caron
- H. Caron
- H. Caron
- H. Rubie
- H. Shimada
- H. Shimada
- H.M. Katzenstein
- H.S. Chan
- I. Janoueix-Lerosey
- I.M. Ambros
- J. Carr
- J. Pritchard
- J. Vandesompele
- J. Vandesompele
- J.A. Squire
- J.L. Reiter
- J.M. Maris
- J.M. Maris
- J.P. Schouten
- K.C. Goldsmith
- L.C. Amler
- L.C. Bowman
- M. Haber
- M. Lastowska
- M. Schwab
- M.E. Romero
- N. Keshelava
- P. Cremoux de
- Q. Wang
- R. Noguera
- R. Noguera
- R. Spitz
- R. Spitz
- R. Spitz
- R. Spitz
- R.C. Seeger
- S. Fulda
- S. Fulda
- S. Yaari
- S.L. Cohn
- S.L. Cohn
- S.L. Cohn
- T. Tanaka
- T. Teitz
- V. Castel
- V. Castel
- X.X. Tang
- Y.P. Mosse
- Y.P. Mosse
- Y.P. Mosse
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- Field of study
The role of infection and inflammation in sudden infant death syndrome
- Author
- Adgent M.A.
- Alm B.
- American Academy of Pediatrics
- Anderson M.E.
- Bajanowski T.
- Beckwith J.B.
- Berry P.J.
- Blackwell C
- Blackwell C.C.
- Blackwell C.C.
- Blackwell C.C.
- Blackwell C.C.
- Blackwell C.C.
- Blackwell C.C.
- Blair P.S.
- Blair P.S.
- Blood-Siegfried J.
- Blood-Siegfried J.
- Blood-Siegfried J.
- Byard R.W.
- Coleman-Phox K.
- Craig J.
- Dashash M.
- Evans C.
- Ferrante L.
- Fewell J.E.
- Findeisen M.
- Fleming K.A.
- Fleming P.
- Franco P.
- Friedman H.
- Froen J.F.
- Froen J.F.
- Froen J.F.
- Froen T.F.
- Gilbert R.
- Gleeson M.
- Harper R.M.
- Harrison L.M.
- Hauck F.R.
- Helweg-Larsen K.
- Holgate S.T.
- Huang Z.G.
- Huang Z.G.
- Jane Blood-Siegfried
- John W.M.
- Kahn A.
- Kinney H.C.
- Klonoff–Cohen H.S.
- Krous H.F.
- Krous H.F.
- Lee S.
- Lundemose J.B.
- MacDorman M.F.
- Malam J.E.
- McKendrick N.
- Mochida-Nishimura K.
- Molony N.
- Moon R.Y.
- Morris J.A.
- Morris J.A.
- Morris S.J.
- Moscovis S.M.
- Moscovis S.M.
- Moscovis S.M.
- Neff R.A.
- Opdal S.H.
- Opdal S.H.
- Pickering L.K.
- Platt M.S.
- Rambaud C.
- Raza M.W.
- Reid G.M.
- Rognum T.O.
- Rognum T.O.
- Sayers N.M.
- Siarakas S.
- Slotkin T.A.
- Slotkin T.A.
- Slotkin T.A.
- Slotkin T.A.
- Smith L.
- Stoltenberg L.
- Summers A.M.
- Taylor B.J.
- Telford D.R.
- Thach B.T.
- Thrane P.S.
- Trube-Becker E
- Vege A.
- Weber M.A.
- Weber M.A.
- Weese-Mayer D.E.
- Willinger M.
- Publication venue
- 'Informa UK Limited'
- Publication date
- Field of study
Neuroblastoma and Related Tumors
- Author
- A Misawa
- A. Adam
- A. Agathanggelou
- A. Agathanggelou
- A. Aguzzi
- A. Bauer
- A. Cañete
- A. Chompret
- A. Claviez
- A. Clerico
- A. Das
- A. Edsjö
- A. Edsjö
- A. Edsjö
- A. Eggert
- A. Eggert
- A. Eggert
- A. Eggert
- A. Eggert
- A. Eggert
- A. Eggert
- A. Eggert
- A. Eggert
- A. Erdreich-Epstein
- A. Fix
- A. Garaventa
- A. Garaventa
- A. Gupta
- A. Inoue
- A. Iolascon
- A. Iolascon
- A. Islam
- A. Islam
- A. Jogi
- A. Kamb
- A. Korshunov
- A. Krause
- A. Laprie
- A. Lasorella
- A. Lasorella
- A. Leone
- A. Leone
- A. Levan
- A. Llombart-Bosch
- A. Maitra
- A. Mezzelani
- A. Misawa
- A. Mondal
- A. Muscat
- A. Mühlethaler-Mottet
- A. Nakagawara
- A. Nakagawara
- A. Nakagawara
- A. Nakagawara
- A. Nakagawara
- A. Nakagawara
- A. Nakagawara
- A. Nakagawara
- A. Nakagawara
- A. Nakagawara
- A. Nakagawara
- A. Nakagawara
- A. Nakagawara
- A. Nakagawara
- A. Nakagawara
- A. Negroni
- A. Oberthuer
- A. Oberthuer
- A. Oberthuer
- A. Patapoutian
- A. Pattyn
- A. Rapella
- A. Sandler
- A. Schramm
- A. Schramm
- A. Shikata
- A. Shikata
- A. Shirvan
- A. Slack
- A. Slack
- A. Slavotinek
- A. Tacconelli
- A. Valent
- A. Valent
- A. Valent
- A. Valent
- A. Valent
- A. Weber
- A. Weber
- A. Weith
- A. Wenzel
- A. Wenzel
- A. Wolff
- A. Zhang
- A.-L. Ducrest
- A.A. Sandberg
- A.A. Sandberg
- A.D. Toraman
- A.D.J. Pearson
- A.E. Evans
- A.E. Evans
- A.E. Evans
- A.F. Olshan
- A.G. Knudson Jr
- A.G. Knudson Jr.
- A.G. Ostermeyer
- A.H. Bill Jr
- A.I. Lamond
- A.J. Becker
- A.J. Becker
- A.J. Dijkhuis
- A.J. Hanson
- A.J. Michalski
- A.J. Michalski
- A.J. Ruijter Da
- A.L. Krasnoselsky
- A.M. Adesina
- A.M. Davidoff
- A.M. Rodriguez-Lopez
- A.M. Udayakumar
- A.N. Lorenzana
- A.O. Cavazzana
- A.P. Geraci
- A.P. Simões-Wüst
- A.P. Stout
- A.S. Guerreiro
- A.T. Look
- A.T. Look
- B. Banelli
- B. Banelli
- B. Banelli
- B. Banelli
- B. Beheshti
- B. Bernardi Da
- B. Berwanger
- B. Chen
- B. Cheung
- B. Marshall
- B. Parashar
- B. Quinn
- B. Quinn
- B. Stark
- B. Stark
- B. Tanno
- B. Tanno
- B. Tanno
- B.A. Spengler
- B.A. Spengler
- B.B. Goranov
- B.B. Goranov
- B.H. Chang
- B.H. Kushner
- B.H. Kushner
- B.H. Kushner
- B.H. Kushner
- B.H. Kushner
- B.L. Hempstead
- B.L. Hempstead
- C. Brinkschmidt
- C. Brinkschmidt
- C. Brinkschmidt
- C. Christov
- C. Domenici
- C. Englund
- C. Fong
- C. Fong
- C. Gambini
- C. Guo
- C. Guo
- C. Kato
- C. Kitanaka
- C. Kobayashi
- C. Krona
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- C. Morrison
- C. Nozaki
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- I.Y. Cheung
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- M.D. Hogarty
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- M.D. Norris
- M.D. Norris
- M.D. Norris
- M.E. Evangelopoulos
- M.E. Evangelopoulos
- M.E. Leon
- M.E. Luttikhuis
- M.E. Oude Luttikhuis
- M.E. Truckenmiller
- M.E.M. Luttikhuis
- M.G. Borrello
- M.G. Dole
- M.G. Dole
- M.H. Schmidt
- M.H. Schmidt
- M.J. Hicks
- M.J. Weiss
- M.K. Feder
- M.K.H. Kim
- M.L. Anko
- M.L. Schmidt
- M.L. Schmidt
- M.L. Schmidt
- M.L. Schmidt
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- M.M. Haag
- M.M. Noesel van
- M.M. Noesel Van
- M.M. Noesel Van
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- N.R. Kim
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- S.A. Bader
- S.A. Burchill
- S.A. Vasudevan
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- S.B. Bordow
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- S.H. Riazimand
- S.I. Bannykh
- S.J. Cotterill
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- S.K. Shapira
- S.K. Thomas
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- S.R. Taylor
- S.W. Weiss
- T. Cremer
- T. Fujimaki
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- T. Gotoh
- T. Hienonen
- T. Hirose
- T. Hirose
- T. Hishiki
- T. Honma
- T. Iehara
- T. Jones
- T. Kusafuka
- T. Machida
- T. Maerken Van
- T. Martinsson
- T. Martinsson
- T. Martinsson
- T. Matsumura
- T. Matsunaga
- T. Misteli
- T. Misteli
- T. Nagata
- T. Noguchi
- T. Nojima
- T. Oe
- T. Oue
- T. Pietsch
- T. Que
- T. Roberts
- T. Sawada
- T. Sawada
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- T. Simon
- T. Sugimoto
- T. Suzuki
- T. Suzuki
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- T. Tajiri
- T. Tajiri
- T. Tajiri
- T. Takeda
- T. Takeuchi
- T. Takeuchi
- T. Tanaka
- T. Tanaka
- T. Tanaka
- T. Tanaka
- T. Teitz
- T. Teitz
- T. Tsuda
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- T. Yoshihara
- T.A. Jones
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- U. Behrends
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- V Limpt van
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- V. Combaret
- V. Combaret
- V. Combaret
- V. Combaret
- V. Combaret
- V. Combaret
- V. Combaret
- V. Huff
- V. Jay
- V. Jay
- V. Jay
- V. Schuster
- V.A. Resto
- V.C. Russo
- V.L Castaneda
- V.P. Castle
- V.P. Castle
- V.V. Joshi
- V.V. Joshi
- V.V. Joshi
- V.V. Joshi
- von
- W. Ellmeier
- W. Lutz
- W. Lutz
- W. Poluha
- W.-M. Hsu
- W.A. Weiss
- W.B. London
- W.B. London
- W.F. Benedict
- W.G. Kaelin Jr
- W.G. Sanger
- W.G. Woods
- W.M. Hsu
- W.T. Su
- X. Gao
- X. Lu
- X. Matias-Guiu
- X. Yang
- X. Zhe
- X. Zhu
- X.-H. Liu
- X.-L. Yin
- X.-T. Kong
- X.-T. Kong
- X.J. You
- X.L. Yin
- X.L. Yin
- X.X. Tang
- X.X. Tang
- X.X. Tang
- X.X. Tang
- X.X. Tang
- Y. Chen
- Y. Daigo
- Y. Dowa
- Y. Fujii
- Y. Hachitanda
- Y. Hayashi
- Y. Hayashi
- Y. Hayashi
- Y. Horii
- Y. Ishiguro
- Y. Jin
- Y. Kaneko
- Y. Kaneko
- Y. Kaneko
- Y. Kaneko
- Y. Kaneko
- Y. Kaneko
- Y. Li
- Y. Miyajima
- Y. Mosse
- Y. Nakamura
- Y. Ogawa
- Y. Osajima-Hakomori
- Y. Perel
- Y. Ren
- Y. Sasaki
- Y. Shiloh
- Y. Soini
- Y. Tsuchida
- Y. Yamanaka
- Y.P. Mosse
- Y.P. Mosse
- Y.P. Mosse
- Y.P. Mosse
- Y.S. Kao
- Y.Y. Chen
- Y.Z. Chen
- Z. Chen
- Z. Li
- Z. Melegh
- Z. Melegh
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- 01/01/2008
- Field of study