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Did you mean celnik OR (Sprecher AND Ishida AND MANDEL) (183 results)?
CEDNIK: Phenotypic and Molecular Characterization of an Additional Patient and Review of the Literature.
Hsu T, Coughlin CC, Monaghan KG, Fiala E, McKinstry RC, Paciorkowski AR, Shinawi M. Hsu T, et al. Child Neurol Open. 2017 Oct 8;4:2329048X17733214. doi: 10.1177/2329048X17733214. eCollection 2017 Jan-Dec. Child Neurol Open. 2017. PMID: 29051910 Free PMC article.
Mutations in the SNAP29 gene have been associated with cerebral dysgenesis, neuropathy, ichthyosis, and keratoderma syndrome (CEDNIK). In patients with 22q11.2 deletion syndrome, mutations in SNAP29 on the nondeleted chromosome are linked to similar ichthyotic and neurolog …
Mutations in the SNAP29 gene have been associated with cerebral dysgenesis, neuropathy, ichthyosis, and keratoderma syndrome (CEDNIK) …
CEDNIK syndrome with phenotypic variability.
Nanda A, Karam TM, AlLafi A. Nanda A, et al. Pediatr Dermatol. 2022 Jul;39(4):650-652. doi: 10.1111/pde.14961. Epub 2022 Mar 1. Pediatr Dermatol. 2022. PMID: 35229899
CEDNIK syndrome is a rare autosomal recessive syndrome characterized by cerebral dysgenesis, neuropathy, ichthyosis, and keratoderma of which 25 cases from 19 families have been reported to date. ...We describe two female siblings from a Syrian parent-related family with …
CEDNIK syndrome is a rare autosomal recessive syndrome characterized by cerebral dysgenesis, neuropathy, ichthyosis, and keratoderma …
CEDNIK syndrome in a Brazilian patient with compound heterozygous pathogenic variants.
Nunes N, Zamariolli M, Dantas AG, Cola P, de Agostinho Júnior F, Piazzon FB, Meloni VA, Melaragno MI. Nunes N, et al. Eur J Med Genet. 2022 Mar;65(3):104440. doi: 10.1016/j.ejmg.2022.104440. Epub 2022 Jan 29. Eur J Med Genet. 2022. PMID: 35093605
Here, we report the clinical and molecular characterization of a patient with CEDNIK syndrome harboring two compound heterozygous variants in the SNAP29 gene. ...This report provides detailed data of a patient with unprecedented genetic events leading to the CEDNIK …
Here, we report the clinical and molecular characterization of a patient with CEDNIK syndrome harboring two compound heterozygous var …
Snap29 mutant mice recapitulate neurological and ophthalmological abnormalities associated with 22q11 and CEDNIK syndrome.
Keser V, Lachance JB, Alam SS, Lim Y, Scarlata E, Kaur A, Zhang TF, Lv S, Lachapelle P, O'Flaherty C, Golden JA, Jerome-Majewska LA. Keser V, et al. Commun Biol. 2019 Oct 11;2:375. doi: 10.1038/s42003-019-0601-5. eCollection 2019. Commun Biol. 2019. PMID: 31633066 Free PMC article.
Moreover, bi-allelic SNAP29 mutations in patients are responsible for CEDNIK (cerebral dysgenesis, neuropathy, ichthyosis, and keratoderma) syndrome. ...In this study, we report that mice with a loss of function mutation of Snap29 on a mixed CD1;FvB genetic background reca …
Moreover, bi-allelic SNAP29 mutations in patients are responsible for CEDNIK (cerebral dysgenesis, neuropathy, ichthyosis, and kerato …
New Cohort of Patients With CEDNIK Syndrome Expands the Phenotypic and Genotypic Spectra.
Mah-Som AY, Skrypnyk C, Guerin A, Seroor Jadah RH, Vardhan VN, McKinstry RC, Shinawi MS. Mah-Som AY, et al. Neurol Genet. 2021 Jan 12;7(1):e553. doi: 10.1212/NXG.0000000000000553. eCollection 2021 Feb. Neurol Genet. 2021. PMID: 33977139 Free PMC article.
RESULTS: CEDNIK syndrome is a rare genetic condition caused by biallelic pathogenic loss-of-function variants in synaptosomal-associated protein 29 (SNAP29), which encodes a vesicular membrane fusion protein. ...CONCLUSIONS: This cohort of 6 additional patients expands the …
RESULTS: CEDNIK syndrome is a rare genetic condition caused by biallelic pathogenic loss-of-function variants in synaptosomal-associa …
Snapshots from within the cell: Novel trafficking and non trafficking functions of Snap29 during tissue morphogenesis.
Smeele PH, Vaccari T. Smeele PH, et al. Semin Cell Dev Biol. 2023 Jan 15;133:42-52. doi: 10.1016/j.semcdb.2022.02.024. Epub 2022 Mar 4. Semin Cell Dev Biol. 2023. PMID: 35256275 Free article. Review.
Finally, we explore how the loss of distinct functions of human Snap29 may lead to the clinical manifestations of congenital disorders such as CEDNIK syndrome and how altered SNAP29 activity may contribute to the pathogenesis of cancer, viral infection and neurodegenerativ …
Finally, we explore how the loss of distinct functions of human Snap29 may lead to the clinical manifestations of congenital disorders such …
Generation and Characterization of a CRISPR/Cas9-Mediated SNAP29 Knockout in Human Fibroblasts.
Martens MC, Edelkamp J, Seebode C, Schäfer M, Stählke S, Krohn S, Jung O, Murua Escobar H, Emmert S, Boeckmann L. Martens MC, et al. Int J Mol Sci. 2021 May 18;22(10):5293. doi: 10.3390/ijms22105293. Int J Mol Sci. 2021. PMID: 34069872 Free PMC article.
Loss-of-function mutations in the synaptosomal-associated protein 29 (SNAP29) lead to the rare autosomal recessive neurocutaneous cerebral dysgenesis, neuropathy, ichthyosis, and keratoderma (CEDNIK) syndrome. SNAP29 is a soluble N-ethylmaleimide-sensitive factor attachmen …
Loss-of-function mutations in the synaptosomal-associated protein 29 (SNAP29) lead to the rare autosomal recessive neurocutaneous cerebral d …
22q and two: 22q11.2 deletion syndrome and coexisting conditions.
Cohen JL, Crowley TB, McGinn DE, McDougall C, Unolt M, Lambert MP, Emanuel BS, Zackai EH, McDonald-McGinn DM. Cohen JL, et al. Am J Med Genet A. 2018 Oct;176(10):2203-2214. doi: 10.1002/ajmg.a.40494. Epub 2018 Sep 23. Am J Med Genet A. 2018. PMID: 30244528 Free PMC article.
We previously reported seven patients with 22q11.2DS and: SCID, Trisomy 8 mosaicism, Bernard-Soulier, and CEDNIK syndromes. Here we present six additional unreported patients with 22q11.2DS and concurrent diagnoses. ...
We previously reported seven patients with 22q11.2DS and: SCID, Trisomy 8 mosaicism, Bernard-Soulier, and CEDNIK syndromes. Here we p …
NEK3-mediated SNAP29 phosphorylation modulates its membrane association and SNARE fusion dependent processes.
Rapaport D, Fichtman B, Weidberg H, Sprecher E, Horowitz M. Rapaport D, et al. Biochem Biophys Res Commun. 2018 Mar 4;497(2):605-611. doi: 10.1016/j.bbrc.2018.02.116. Epub 2018 Feb 15. Biochem Biophys Res Commun. 2018. PMID: 29454964
SNAP29 (synaptosomal-associated protein 29), a t-SNARE protein, is involved in multiple fusion events during intracellular transport and affects structure of organelles such as the Golgi apparatus and focal adhesions. Mutations in SNAP29 gene result in CEDNIK (Cerebral dys …
SNAP29 (synaptosomal-associated protein 29), a t-SNARE protein, is involved in multiple fusion events during intracellular transport and aff …
28 results