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Items: 18

Select item 107210181.

Exome sequencing in 16 patients with pituitary stalk interruption syndrome: A monocentric study

Raja Brauner, Joelle Bignon-Topalovic, Anu Bashamboo, Ken McElreavey

PLoS One. 2023; 18(12): e0292664. Published online 2023 Dec 14. doi: 10.1371/journal.pone.0292664

PMCID:: PMC10721018

Abstract Article PDF–409K

Select item 80185842.

Heterozygous mutation of sonic hedgehog receptor (Ptch1) drives cerebellar overgrowth and sex-specifically alters hippocampal and cortical layer structure, activity, and social behavior in female mice

Thomas W. Jackson, Gabriel A. Bendfeldt, Kelby A. Beam, Kylie D. Rock, Scott M. Belcher

Neurotoxicol Teratol. Author manuscript; available in PMC 2021 Apr 2.

Published in final edited form as: Neurotoxicol Teratol. 2020 Mar-Apr; 78: 106866. Published online 2020 Feb 27. doi: 10.1016/j.ntt.2020.106866

PMCID:: PMC8018584

Abstract Article PDF–2.1M

Select item 77586353.

The hedgehog co-receptor BOC differentially regulates SHH signaling during craniofacial development

Martha L. Echevarría-Andino, Benjamin L. Allen

Development. 2020 Dec 1; 147(23): dev189076. Published online 2020 Dec 14. doi: 10.1242/dev.189076

PMCID:: PMC7758635

Abstract Article

Select item 75796884.

Identification of novel candidate pathogenic genes in pituitary stalk interruption syndrome by whole‐exome sequencing

Xuqian Fang, Yuwen Zhang, Jialin Cai, Tingwei Lu, Junjie Hu, Fei Yuan, Peizhan Chen

J Cell Mol Med. 2020 Oct; 24(20): 11703–11717. Published online 2020 Aug 31. doi: 10.1111/jcmm.15781

PMCID:: PMC7579688

Abstract Article PDF–1.2M

Select item 67776335.

A novel dominant-negative FGFR1 variant causes Hartsfield syndrome by deregulating RAS/ERK1/2 pathway

Pietro Palumbo, Antonio Petracca, Roberto Maggi, Tommaso Biagini, Grazia Nardella, Michele Carmine Sacco, Elia Di Schiavi, Massimo Carella, Lucia Micale, Marco Castori

Eur J Hum Genet. 2019 Jul; 27(7): 1113–1120. Published online 2019 Feb 20. doi: 10.1038/s41431-019-0350-4

PMCID:: PMC6777633

Abstract Article PDF–1.1M

Select item 67774476.

Schilbach–Rott syndrome associated with 9q22.32q22.33 duplication, involving the PTCH1 gene

Paolo Prontera, Daniela Rogaia, Ester Sallicandro, Amedea Mencarelli, Valentina Imperatore, Gabriella Maria Squeo, Giuseppe Merla, Sandro Elisei, Danilo Moretti-Ferreira, Susanna Esposito, Gabriela Stangoni

Eur J Hum Genet. 2019 Aug; 27(8): 1260–1266. Published online 2019 Apr 1. doi: 10.1038/s41431-019-0385-6

PMCID:: PMC6777447

Abstract Article PDF–919K

Select item 61656827.

Gain-of-function Shh mutants activate Smo cell-autonomously independent of Ptch1/2 function

Catalina Casillas, Henk Roelink

Mech Dev. Author manuscript; available in PMC 2019 Oct 1.

Published in final edited form as: Mech Dev. 2018 Oct; 153: 30–41. Published online 2018 Aug 23. doi: 10.1016/j.mod.2018.08.009

PMCID:: PMC6165682

Abstract Article PDF–2.2M

Select item 60144428.

New mutations and an updated database for the patched‐1 (PTCH1) gene

Marie G. Reinders, Antonius F. van Hout, Betûl Cosgun, Aimée D. Paulussen, Edward M. Leter, Peter M. Steijlen, Klara Mosterd, Michel van Geel, Johan J. Gille

Mol Genet Genomic Med. 2018 May; 6(3): 409–415. Published online 2018 Mar 25. doi: 10.1002/mgg3.380

PMCID:: PMC6014442

Abstract Article PDF–420K

Select item 43630299.

Serotype- and virulence-associated gene profile of Streptococcus suis isolates from pig carcasses in Chiang Mai Province, Northern Thailand

Kanruethai WONGSAWAN, Marcelo GOTTSCHALK, Prasit THARAVICHITKUL

J Vet Med Sci. 2015 Feb; 77(2): 233–236. Published online 2014 Nov 3. doi: 10.1292/jvms.14-0380

PMCID:: PMC4363029

Abstract Article PDF–450K

Select item 431477910.

Impact of retinoic acid exposure on midfacial shape variation and manifestation of holoprosencephaly in Twsg1 mutant mice

Charles J. Billington, Jr, Brian Schmidt, Ralph S. Marcucio, Benedikt Hallgrimsson, Rajaram Gopalakrishnan, Anna Petryk

Dis Model Mech. 2015 Feb; 8(2): 139–146. Published online 2014 Dec 2. doi: 10.1242/dmm.018275

PMCID:: PMC4314779

Abstract Article

Select item 429124811.

Co-ordinated brain and craniofacial development depend upon Patched1/XIAP regulation of cell survival

Kazushi Aoto, Paul A. Trainor

Hum Mol Genet. 2015 Feb 1; 24(3): 698–713. Published online 2014 Oct 6. doi: 10.1093/hmg/ddu489

PMCID:: PMC4291248

Abstract Article PDF–1.6M

Select item 382370312.

Rescue of Holoprosencephaly in Fetal Alcohol-Exposed Cdon Mutant Mice by Reduced Gene Dosage of Ptch1

Mingi Hong, Robert S. Krauss

PLoS One. 2013; 8(11): e79269. Published online 2013 Nov 11. doi: 10.1371/journal.pone.0079269

PMCID:: PMC3823703

Abstract Article PDF–8.3M

Select item 346420113.

Mutations in Hedgehog Acyltransferase (Hhat) Perturb Hedgehog Signaling, Resulting in Severe Acrania-Holoprosencephaly-Agnathia Craniofacial Defects

Jennifer F. Dennis, Hiroshi Kurosaka, Angelo Iulianella, Jennifer Pace, Nancy Thomas, Sharon Beckham, Trevor Williams, Paul A. Trainor

PLoS Genet. 2012 Oct; 8(10): e1002927. Published online 2012 Oct 4. doi: 10.1371/journal.pgen.1002927

PMCID:: PMC3464201

Abstract Article PDF–5.8M

Select item 340919114.

Unique Alterations of an Ultraconserved Non-Coding Element in the 3′UTR of ZIC2 in Holoprosencephaly

Erich Roessler, Ping Hu, Sung-Kook Hong, Kshitij Srivastava, Blake Carrington, Raman Sood, Hanna Petrykowska, Laura Elnitski, Lucilene A. Ribeiro, Antonio Richieri-Costa, Benjamin Feldman, Ward F. Odenwald, Maximilian Muenke

PLoS One. 2012; 7(7): e39026. Published online 2012 Jul 31. doi: 10.1371/journal.pone.0039026