TMEM161B regulates cerebral cortical gyration, Sonic Hedgehog signaling, and ciliary structure in the developing central nervous system.

Animals Female Humans Mice Pregnancy Central Nervous System / metabolism Cilia / genetics Ferrets Hedgehog Proteins / genetics Mice, Knockout Signal Transduction
Sonic Hedgehog cortical gyration holoprosencephaly polymicrogyria primary cilia

Journal

Proceedings of the National Academy of Sciences of the United States of America
ISSN: 1091-6490
Titre abrégé: Proc Natl Acad Sci U S A
Pays: United States
ID NLM: 7505876

Informations de publication

Date de publication:
24 Jan 2023
Historique:
entrez: 20 1 2023
pubmed: 21 1 2023
medline: 25 1 2023
Statut: ppublish

Résumé

Sonic hedgehog signaling regulates processes of embryonic development across multiple tissues, yet factors regulating context-specific Shh signaling remain poorly understood. Exome sequencing of families with polymicrogyria (disordered cortical folding) revealed multiple individuals with biallelic deleterious variants in

Identifiants

DOI: 10.1073/pnas.2209964120 PMID: 36669111 PMC: PMC9942790
pubmed: 36669111
doi: 10.1073/pnas.2209964120
pmc: PMC9942790
doi:

Substances chimiques

Hedgehog Proteins 0
Tmem161b protein, mouse 0

Types de publication

Journal Article

Langues

eng

Sous-ensembles de citation

IM

Pagination

e2209964120

Subventions

Organisme : NIGMS NIH HHS
ID : T32 GM007753
Pays : United States
Organisme : NHGRI NIH HHS
ID : U01 HG007709
Pays : United States
Organisme : NIGMS NIH HHS
ID : T32 GM144273
Pays : United States
Organisme : NCI NIH HHS
ID : P30 CA015083
Pays : United States
Organisme : Medical Research Council
ID : MC_UP_1502/3
Pays : United Kingdom
Organisme : Medical Research Council
ID : MC_UP_2201/1
Pays : United Kingdom

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Auteurs

Shyam K Akula (SK)

Division of Genetics and Genomics, Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA 02115.
Harvard-Massachusetts Institute of Technology MD/PhD Program, Program in Neuroscience, Harvard Medical School, Boston, MA 02115.
Howard Hughes Medical Institute, Boston Children's Hospital Boston, Boston, MA 02115.
Department of Pediatrics, Harvard Medical School, Boston, MA 02115.
Department of Neurology, Harvard Medical School, Boston, MA 02115.
ORCID: 0000-0003-2334-591X

Jack H Marciano (JH)

Division of Genetics and Genomics, Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA 02115.
Howard Hughes Medical Institute, Boston Children's Hospital Boston, Boston, MA 02115.
Department of Pediatrics, Harvard Medical School, Boston, MA 02115.
Department of Neurology, Harvard Medical School, Boston, MA 02115.
ORCID: 0000-0002-0238-9916

Youngshin Lim (Y)

Division of Genetics and Genomics, Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA 02115.
Howard Hughes Medical Institute, Boston Children's Hospital Boston, Boston, MA 02115.
Department of Pathology and Laboratory Medicine, Cedars-Sinai Medical Center, Los Angeles, CA 90048.
ORCID: 0000-0002-7842-3244

David Exposito-Alonso (D)

Division of Genetics and Genomics, Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA 02115.
Howard Hughes Medical Institute, Boston Children's Hospital Boston, Boston, MA 02115.
Department of Pediatrics, Harvard Medical School, Boston, MA 02115.
Department of Neurology, Harvard Medical School, Boston, MA 02115.
ORCID: 0000-0002-4950-2744

Norma K Hylton (NK)

Division of Genetics and Genomics, Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA 02115.
Harvard-Massachusetts Institute of Technology MD/PhD Program, Program in Neuroscience, Harvard Medical School, Boston, MA 02115.
Howard Hughes Medical Institute, Boston Children's Hospital Boston, Boston, MA 02115.
Department of Pediatrics, Harvard Medical School, Boston, MA 02115.
Department of Neurology, Harvard Medical School, Boston, MA 02115.

Grace H Hwang (GH)

Department of Cancer Biology, Dana-Farber Cancer Institute, Boston, MA 02115.
Department of Neurobiology, Harvard Medical School, Boston, MA 02115.
ORCID: 0000-0002-4979-4409

Jennifer E Neil (JE)

Division of Genetics and Genomics, Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA 02115.
Howard Hughes Medical Institute, Boston Children's Hospital Boston, Boston, MA 02115.

Nicole Dominado (N)

Department of Anatomy & Physiology, The University of Melbourne, Melbourne, VIC 3010, Australia.

Rosie K Bunton-Stasyshyn (RK)

Mary Lyon Centre, United Kingdom Medical Research Council Harwell, Didcot, Oxfordshire, OX11 0RD, UK.
ORCID: 0000-0002-1895-2240

Janet H T Song (JHT)

Division of Genetics and Genomics, Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA 02115.
Howard Hughes Medical Institute, Boston Children's Hospital Boston, Boston, MA 02115.
Department of Pediatrics, Harvard Medical School, Boston, MA 02115.
Department of Neurology, Harvard Medical School, Boston, MA 02115.

Maya Talukdar (M)

Division of Genetics and Genomics, Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA 02115.
Harvard-Massachusetts Institute of Technology MD/PhD Program, Program in Neuroscience, Harvard Medical School, Boston, MA 02115.
Howard Hughes Medical Institute, Boston Children's Hospital Boston, Boston, MA 02115.
Department of Pediatrics, Harvard Medical School, Boston, MA 02115.
Department of Neurology, Harvard Medical School, Boston, MA 02115.
ORCID: 0000-0002-5997-5633

Aloisia Schmid (A)

Department of Physics/Electron Microscopy Core, Northeastern University, Boston, MA 02115.

Lydia Teboul (L)

Mary Lyon Centre, United Kingdom Medical Research Council Harwell, Didcot, Oxfordshire, OX11 0RD, UK.

Alisa Mo (A)

Division of Genetics and Genomics, Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA 02115.
Howard Hughes Medical Institute, Boston Children's Hospital Boston, Boston, MA 02115.
ORCID: 0000-0002-6435-1227

Taehwan Shin (T)

Division of Genetics and Genomics, Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA 02115.
Howard Hughes Medical Institute, Boston Children's Hospital Boston, Boston, MA 02115.
Department of Pediatrics, Harvard Medical School, Boston, MA 02115.
Department of Neurology, Harvard Medical School, Boston, MA 02115.

Benjamin Finander (B)

Division of Genetics and Genomics, Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA 02115.
Howard Hughes Medical Institute, Boston Children's Hospital Boston, Boston, MA 02115.
Department of Pediatrics, Harvard Medical School, Boston, MA 02115.
Department of Neurology, Harvard Medical School, Boston, MA 02115.

Samantha G Beck (SG)

Division of Genetics and Genomics, Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA 02115.
Howard Hughes Medical Institute, Boston Children's Hospital Boston, Boston, MA 02115.

Rebecca C Yeh (RC)

Division of Genetics and Genomics, Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA 02115.
Howard Hughes Medical Institute, Boston Children's Hospital Boston, Boston, MA 02115.

Aoi Otani (A)

Division of Genetics and Genomics, Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA 02115.
Howard Hughes Medical Institute, Boston Children's Hospital Boston, Boston, MA 02115.

Xuyu Qian (X)

Division of Genetics and Genomics, Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA 02115.
Howard Hughes Medical Institute, Boston Children's Hospital Boston, Boston, MA 02115.

Ellen M DeGennaro (EM)

Division of Genetics and Genomics, Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA 02115.
Howard Hughes Medical Institute, Boston Children's Hospital Boston, Boston, MA 02115.
Department of Pediatrics, Harvard Medical School, Boston, MA 02115.
Department of Neurology, Harvard Medical School, Boston, MA 02115.
ORCID: 0000-0001-5506-6451

Fowzan S Alkuraya (FS)

Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, 11564 Riyadh, Saudi Arabia.

Sateesh Maddirevula (S)

Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, 11564 Riyadh, Saudi Arabia.

Gregory D Cascino (GD)

Department of Neurology, Mayo Clinic, Rochester, MN 55905.
ORCID: 0000-0002-5380-2977

Caterina Giannini (C)

Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55905.
ORCID: 0000-0003-2757-6782

Lindsay C Burrage (LC)

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030.
Departments of Pediatrics, Baylor College of Medicine, Houston, TX 77030.
Neurology, Baylor College of Medicine, Houston, TX 77030.
Neuroscience, Baylor College of Medicine, Houston, TX 77030.
ORCID: 0000-0002-5108-8861

Jill A Rosenfield (JA)

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030.
ORCID: 0000-0001-5664-7987

Shamika Ketkar (S)

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030.

Gary D Clark (GD)

Departments of Pediatrics, Baylor College of Medicine, Houston, TX 77030.
Neurology, Baylor College of Medicine, Houston, TX 77030.
Neuroscience, Baylor College of Medicine, Houston, TX 77030.

Carlos Bacino (C)

Departments of Pediatrics, Baylor College of Medicine, Houston, TX 77030.
Neurology, Baylor College of Medicine, Houston, TX 77030.
Neuroscience, Baylor College of Medicine, Houston, TX 77030.
ORCID: 0000-0002-4342-5012

Richard A Lewis (RA)

Departments of Pediatrics, Baylor College of Medicine, Houston, TX 77030.
Neurology, Baylor College of Medicine, Houston, TX 77030.
Neuroscience, Baylor College of Medicine, Houston, TX 77030.
ORCID: 0000-0002-6644-6385

Rosalind A Segal (RA)

Department of Cancer Biology, Dana-Farber Cancer Institute, Boston, MA 02115.
Department of Neurobiology, Harvard Medical School, Boston, MA 02115.
ORCID: 0000-0001-9850-8432

J Fernando Bazan (JF)

Unit for Structural Biology, Vlaams Instituut voor Biotechnologie-UGent Center for Inflammation Research, 9052 Ghent, Belgium.
ORCID: 0000-0002-3645-9935

Kelly A Smith (KA)

Department of Anatomy & Physiology, The University of Melbourne, Melbourne, VIC 3010, Australia.
ORCID: 0000-0002-8283-9760

Jeffrey A Golden (JA)

Department of Pathology and Laboratory Medicine, Cedars-Sinai Medical Center, Los Angeles, CA 90048.
ORCID: 0000-0001-9933-5502

Ginam Cho (G)

Department of Pathology and Laboratory Medicine, Cedars-Sinai Medical Center, Los Angeles, CA 90048.
ORCID: 0000-0002-7262-8716

Christopher A Walsh (CA)

Division of Genetics and Genomics, Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA 02115.
Harvard-Massachusetts Institute of Technology MD/PhD Program, Program in Neuroscience, Harvard Medical School, Boston, MA 02115.
Howard Hughes Medical Institute, Boston Children's Hospital Boston, Boston, MA 02115.
Department of Pediatrics, Harvard Medical School, Boston, MA 02115.
Department of Neurology, Harvard Medical School, Boston, MA 02115.
ORCID: 0000-0002-0156-2238

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Classifications MeSH

questionsmedicales.fr › Eucaryotes › Animaux › TMEM161B regulates cerebral cortical gyration,...
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › TMEM161B regulates cerebral cortical gyration,...
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Rodentia › Muridae › Murinae › Souris › TMEM161B regulates cerebral cortical gyration,...
questionsmedicales.fr › Phénomènes physiologiques des appareils urinaire et reproducteur › Phénomènes physiologiques de la reproduction › Reproduction › Grossesse › TMEM161B regulates cerebral cortical gyration,...
questionsmedicales.fr › Système nerveux › Système nerveux central › TMEM161B regulates cerebral cortical gyration,...
questionsmedicales.fr › Cellules › Structures cellulaires › Prolongements cytoplasmiques › Cils vibratiles › TMEM161B regulates cerebral cortical gyration,...
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Carnivora › Pinnipedia › Mustelidae › Furets › TMEM161B regulates cerebral cortical gyration,...
questionsmedicales.fr › Facteurs biologiques › Protéines et peptides de signalisation intercellulaire › Protéines Hedgehog › TMEM161B regulates cerebral cortical gyration,...
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Rodentia › Muridae › Murinae › Souris › Souris transgéniques › Souris knockout › TMEM161B regulates cerebral cortical gyration,...
questionsmedicales.fr › Phénomènes physiologiques cellulaires › Transduction du signal › TMEM161B regulates cerebral cortical gyration,...