Zobrazeno 1 - 10
of 169
pro vyhledávání: '"J Peter H, Burbach"'
Autor:
Rosemary A. Bamford, Amila Zuko, Madeline Eve, Jan J. Sprengers, Harm Post, Renske L. R. E. Taggenbrock, Dominique Fäβler, Annika Mehr, Owen J. R. Jones, Aurimas Kudzinskas, Josan Gandawijaya, Ulrike C. Müller, Martien J. H. Kas, J. Peter H. Burbach, Asami Oguro-Ando
Publikováno v:
Open Biology, Vol 14, Iss 5 (2024)
The neuronal cell adhesion molecule contactin-4 (CNTN4) is genetically associated with autism spectrum disorder (ASD) and other psychiatric disorders. Cntn4-deficient mouse models have previously shown that CNTN4 plays important roles in axon guidanc
Externí odkaz:
https://doaj.org/article/ba72db2116e74e9ea015ee3338ab6914
Autor:
Stanley K. K. Cheung, Jacinda Kwok, Penelope M. Y. Or, Chi Wai Wong, Bo Feng, Kwong Wai Choy, Raymond C. C. Chang, J. Peter H. Burbach, Alfred S. L. Cheng, Andrew M. Chan
Publikováno v:
Scientific Reports, Vol 13, Iss 1, Pp 1-13 (2023)
Abstract PTEN hamartoma tumour syndrome is characterised by mutations in the human PTEN gene. We performed transcriptomic and proteomic analyses of neural tissues and primary cultures from heterozygous and homozygous Pten-knockout mice. The somatosen
Externí odkaz:
https://doaj.org/article/fd7b9f61c0644cdfa99aa303d784c7ff
Autor:
Tanja C W Nijboer, Ellen V S Hessel, Gijs W van Haaften, Martine J van Zandvoort, Peter J van der Spek, Christine Troelstra, Carolien G F de Kovel, Bobby P C Koeleman, Bert van der Zwaag, Eva H Brilstra, J Peter H Burbach
Publikováno v:
PLoS ONE, Vol 18, Iss 9, p e0290013 (2023)
Colour agnosia is a disorder that impairs colour knowledge (naming, recognition) despite intact colour perception. Previously, we have identified the first and only-known family with hereditary developmental colour agnosia. The aim of the current stu
Externí odkaz:
https://doaj.org/article/437e002c511c4c28b84eb313bb4302a8
Autor:
Asami Oguro-Ando, Rosemary A. Bamford, Wiedjai Sital, Jan J. Sprengers, Amila Zuko, Jolien M. Matser, Hugo Oppelaar, Angela Sarabdjitsingh, Marian Joëls, J. Peter. H. Burbach, Martien J. Kas
Publikováno v:
Translational Psychiatry, Vol 11, Iss 1, Pp 1-15 (2021)
Abstract Neurodevelopmental and neuropsychiatric disorders, such as autism spectrum disorders (ASD), anorexia nervosa (AN), Alzheimer’s disease (AD), and schizophrenia (SZ), are heterogeneous brain disorders with unknown etiology. Genome wide studi
Externí odkaz:
https://doaj.org/article/53f044de4fd74bb99a68f5ff4e2e7313
Publikováno v:
Frontiers in Cellular Neuroscience, Vol 14 (2021)
Autism spectrum disorder (ASD) is characterized by impaired social interaction, language delay and repetitive or restrictive behaviors. With increasing prevalence, ASD is currently estimated to affect 0.5–2.0% of the global population. However, its
Externí odkaz:
https://doaj.org/article/2e7b143b18a74772a295f80a9f0011e5
Autor:
Remco T. Molenhuis, Hilgo Bruining, Myrna J. V. Brandt, Petra E. van Soldt, Hanifa J. Abu-Toamih Atamni, J. Peter H. Burbach, Fuad A. Iraqi, Richard F. Mott, Martien J. H. Kas
Publikováno v:
Molecular Autism, Vol 9, Iss 1, Pp 1-11 (2018)
Abstract Background Animal models for neurodevelopmental disorders (NDD) generally rely on a single genetic mutation on a fixed genetic background. Recent human genetic studies however indicate that a clinical diagnosis with Autism Spectrum Disorder
Externí odkaz:
https://doaj.org/article/49bbf165784c41c5a77fe037b30fc85c
Autor:
J. Peter H. Burbach, Dimphna H. Meijer
Publikováno v:
Frontiers in Neuroscience, Vol 13 (2019)
Latrophilins (LPHNs) are adhesion GPCRs that are originally discovered as spider’s toxin receptors, but are now known to be involved in brain development and linked to several neuronal and non-neuronal disorders. Latrophilins act in conjunction wit
Externí odkaz:
https://doaj.org/article/3898bd55adcf414aae553179a28b6f46
Autor:
Christopher Heise, Jonathan M. Preuss, Jan C. Schroeder, Chiara R. Battaglia, Jonas Kolibius, Rebecca Schmid, Michael R. Kreutz, Martien J. H. Kas, J. Peter H. Burbach, Tobias M. Boeckers
Publikováno v:
Frontiers in Molecular Neuroscience, Vol 11 (2018)
Autism spectrum disorder (ASD) refers to a large set of neurodevelopmental disorders, which have in common both repetitive behavior and abnormalities in social interactions and communication. Interestingly, most forms of ASD have a strong genetic con
Externí odkaz:
https://doaj.org/article/72a105556cba4495be65a13743744b3a
Publikováno v:
Biology Open, Vol 4, Iss 8, Pp 954-960 (2015)
Homeodomain transcription factors regulate development of embryos and cellular physiology in adult systems. Paired-type homeodomain genes constitute a subclass that has been particularly implicated in establishment of neuronal identity in the mammali
Externí odkaz:
https://doaj.org/article/ee2b45b8f981404087393cfeeb489978
Autor:
Andrew Man-Lok Chan, Stanley Kwok-Kuen Cheung, Jacinda Kwok, Penelope Mei-Yu Or, Chi Wai Wong, Bo Feng, Kwong Wai Choy, Raymond C.C. Chang, J. Peter H. Burbach, Alfred Sze-Lok Cheng
Background: PTEN Hamartoma Tumor Syndrome (PHTS) is characterized by frequent mutation in PTEN gene. PHTS patients have numerous neurological defects including macrocephaly and autism spectrum disorder. While clinical features of PHTS are likely the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::484546bb623c668dd7ca3804d1c1cc1c
https://doi.org/10.21203/rs.3.rs-1575672/v1
https://doi.org/10.21203/rs.3.rs-1575672/v1
