Mutational screening of FGFR1, CER1, and CDON in a large cohort of trigonocephalic patients.

Mutational screening of FGFR1, CER1, and CDON in a large cohort of trigonocephalic patients.

OBJECTIVE: Screen the known craniosynostotic related gene, FGFR1 (exon 7), and two new identified potential candidates, CER1 and CDON, in patients with syndromic and nonsyndromic metopic craniosynostosis to determine if they might be causative genes. DESIGN: Using single-strand conformational polym...

Full description

Bibliographic Details
Main Authors:	Jehee, F, Alonso, L, Cavalcanti, D, Kim, C, Wall, SA, Mulliken, J, Sun, M, Jabs, E, Boyadjiev, SA, Wilkie, A, Passos-Bueno, MR
Format:	Journal article
Language:	English
Published:	2006

Similar Items

Molecular screening for microdeletions at 9p22-p24 and 11q23-q24 in a large cohort of patients with trigonocephaly.
by: Jehee, F, et al.
Published: (2005)

FGFR3 P250R mutation increases the risk of reoperation in apparent 'nonsyndromic' coronal craniosynostosis.
by: Thomas, G, et al.
Published: (2005)

Paternal origin of FGFR3 mutations in Muenke-type craniosynostosis.
by: Rannan-Eliya, S, et al.
Published: (2004)

Atypical Crouzon Syndrome With a Novel Cys62Arg Mutation in FGFR2 Presenting With Sagittal Synostosis.
by: Sharma, V, et al.
Published: (2012)

Cdon mutation and fetal alcohol converge on Nodal signaling in a mouse model of holoprosencephaly
by: Mingi Hong, et al.
Published: (2020-09-01)

Gain-of-function amino acid substitutions drive positive selection of FGFR2 mutations in human spermatogonia.
by: Goriely, A, et al.
Published: (2005)

Rescue of holoprosencephaly in fetal alcohol-exposed Cdon mutant mice by reduced gene dosage of Ptch1.
by: Mingi Hong, et al.
Published: (2013-01-01)

Prenatal ethanol exposure in mice phenocopies Cdon mutation by impeding Shh function in the etiology of optic nerve hypoplasia
by: Benjamin M. Kahn, et al.
Published: (2017-01-01)

CerS1 but Not CerS5 Gene Silencing, Improves Insulin Sensitivity and Glucose Uptake in Skeletal Muscle
by: Agnieszka U. Błachnio-Zabielska, et al.
Published: (2022-01-01)

Sonic Hedgehog promotes tumor cell survival by inhibiting CDON pro-apoptotic activity.
by: Céline Delloye-Bourgeois, et al.
Published: (2013-01-01)

“THE CONFLICT ON THE CER IN 1926” AND “THE CONFLICT ON THE CER 1929”: COMPARATIVE POLITICS
by: V. G. Datsyshen
Published: (2018-11-01)

Satellite cell‐specific ablation of Cdon impairs integrin activation, FGF signalling, and muscle regeneration
by: Ju‐Hyeon Bae, et al.
Published: (2020-08-01)

Dual activating FGFR1 mutations in pediatric pilomyxoid astrocytoma
by: Elena I. Fomchenko, et al.
Published: (2021-02-01)

Evidence for selective advantage of pathogenic FGFR2 mutations in the male germ line.
by: Goriely, A, et al.
Published: (2003)

RAB23 mutations in Carpenter syndrome imply an unexpected role for hedgehog signaling in cranial-suture development and obesity.
by: Jenkins, D, et al.
Published: (2007)

Mutations in CERS3 cause autosomal recessive congenital ichthyosis in humans.
by: Franz P W Radner, et al.
Published: (2013-06-01)

Mutation spectrum of Kallmann syndrome: identification of five novel mutations across ANOS1 and FGFR1
by: Guoming Chu, et al.
Published: (2023-03-01)

Expanding the mutational spectrum of monogenic hypogonadotropic hypogonadism: novel mutations in ANOS1 and FGFR1 genes
by: Agnieszka Gach, et al.
Published: (2020-01-01)

Correlation between different FGFR1 mutations and congenital hypogonadotropic hypogonadism
by: YANG Yufan, WANG Xi, NIE Min, WU Xueyan, MAO Jiangfeng
Published: (2023-05-01)

Clinical hypochondroplasia in a family caused by a heterozygous double mutation in FGFR3 encoding GLY380LYS.
by: Santos, H, et al.
Published: (2007)

Apparently synonymous substitutions in FGFR2affect splicing and result in mild Crouzon syndrome
by: Fenwick, A, et al.
Published: (2014)

A further mutation of the FGFR2 tyrosine kinase domain in mild Crouzon syndrome.
by: de Ravel, T, et al.
Published: (2005)

P720: Single cell RNA-Seq in zebrafish foxe3 crispants shows significant dysregulation of cdon
by: Madison Moe, et al.
Published: (2024-01-01)

Cdon ablation in motor neurons causes age‐related motor neuron degeneration and impaired sciatic nerve repair
by: Sunghee Kim, et al.
Published: (2023-10-01)

Expanding the phenotype of craniofrontonasal syndrome: two unrelated boys with EFNB1 mutations and congenital diaphragmatic hernia.
by: Vasudevan, P, et al.
Published: (2006)

CER : construction economics report /
by: Construction Industry Development Board (Singapore). Construction Economics Research Unit
Published: ([199)

Graduan bertuah CER-SAP
by: Harian Metro,
Published: (2014)

Correction: Mutations in CERS3 Cause Autosomal Recessive Congenital Ichthyosis in Humans
Published: (2013-06-01)

FGFR1 regulates proliferation and metastasis by targeting CCND1 in FGFR1 amplified lung cancer
by: Ying Yang, et al.
Published: (2020-01-01)

Myeloid/Lymphoid Neoplasm With FGFR1 Rearrangement Accompanying RUNX1 and NOTCH1 Gene Mutations
by: Xiaoxue Wang, et al.
Published: (2019-11-01)

Effects of FGFR1 Gene Polymorphisms on the Risk of Breast Cancer and FGFR1 Protein Expression
by: Junqiang Wu, et al.
Published: (2018-07-01)

Differential regulation of FGFR3 controls FGFR1:FGFR3 balance in chondrocytes after cartilage injury
by: Khan, S, et al.
Published: (2016)

3D microextrusion of eco-friendly water based cer-cer composite pastes for hydrogen separation
by: Andrea Bartoletti, et al.
Published: (2023-12-01)

Mutations of ephrin-B1 (EFNB1), a marker of tissue boundary formation, cause craniofrontonasal syndrome.
by: Twigg, SR, et al.
Published: (2004)

The origin of EFNB1 mutations in craniofrontonasal syndrome: frequent somatic mosaicism and explanation of the paucity of carrier males.
by: Twigg, SR, et al.
Published: (2006)

Mutations in CERS3 Gene Underlies a Case of Autosomal Recessive Congenital Ichthyosis
by: LIU Juan, et al.
Published: (2023-04-01)

Ceramide synthase CERS4 gene downregulation is associated with KRAS mutation in colorectal cancer
by: Tamuro Hayama, et al.
Published: (2023-09-01)

Inhibition of CERS1 in skeletal muscle exacerbates age-related muscle dysfunction
by: Martin Wohlwend, et al.
Published: (2024-03-01)

Intrinsic FGFR2 and Ectopic FGFR1 Signaling in the Prostate and Prostate Cancer
by: Cong Wang, et al.
Published: (2019-01-01)

Assessing Rollover Criteria for EUAs and CERs
by: Oscar Carchano, et al.
Published: (2014-07-01)