These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

173 related articles for article (PubMed ID: 35327592)

  • 1. Structural Analysis of the Effect of Asn107Ser Mutation on Alg13 Activity and Alg13-Alg14 Complex Formation and Expanding the Phenotypic Variability of ALG13-CDG.
    Mitusińska K; Góra A; Bogdańska A; Rożdżyńska-Świątkowska A; Tylki-Szymańska A; Jezela-Stanek A
    Biomolecules; 2022 Mar; 12(3):. PubMed ID: 35327592
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Exome sequence identified a c.320A > G ALG13 variant in a female with infantile epileptic encephalopathy with normal glycosylation and random X inactivation: Review of the literature.
    Hamici S; Bastaki F; Khalifa M
    Eur J Med Genet; 2017 Oct; 60(10):541-547. PubMed ID: 28778787
    [TBL] [Abstract][Full Text] [Related]  

  • 3. ALG13 X-linked intellectual disability: New variants, glycosylation analysis, and expanded phenotypes.
    Alsharhan H; He M; Edmondson AC; Daniel EJP; Chen J; Donald T; Bakhtiari S; Amor DJ; Jones EA; Vassallo G; Vincent M; Cogné B; Deb W; Werners AH; Jin SC; Bilguvar K; Christodoulou J; Webster RI; Yearwood KR; Ng BG; Freeze HH; Kruer MC; Li D; Raymond KM; Bhoj EJ; Sobering AK
    J Inherit Metab Dis; 2021 Jul; 44(4):1001-1012. PubMed ID: 33734437
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Predominant and novel de novo variants in 29 individuals with ALG13 deficiency: Clinical description, biomarker status, biochemical analysis, and treatment suggestions.
    Ng BG; Eklund EA; Shiryaev SA; Dong YY; Abbott MA; Asteggiano C; Bamshad MJ; Barr E; Bernstein JA; Chelakkadan S; Christodoulou J; Chung WK; Ciliberto MA; Cousin J; Gardiner F; Ghosh S; Graf WD; Grunewald S; Hammond K; Hauser NS; Hoganson GE; Houck KM; Kohler JN; Morava E; Larson AA; Liu P; Madathil S; McCormack C; Meeks NJL; Miller R; Monaghan KG; Nickerson DA; Palculict TB; Papazoglu GM; Pletcher BA; Scheffer IE; Schenone AB; Schnur RE; Si Y; Rowe LJ; Serrano Russi AH; Russo RS; Thabet F; Tuite A; Villanueva MM; Wang RY; Webster RI; Wilson D; Zalan A; ; Wolfe LA; Rosenfeld JA; Rhodes L; Freeze HH
    J Inherit Metab Dis; 2020 Nov; 43(6):1333-1348. PubMed ID: 32681751
    [TBL] [Abstract][Full Text] [Related]  

  • 5. ALG13-CDG in a male with seizures, normal cognitive development, and normal transferrin isoelectric focusing.
    Gadomski TE; Bolton M; Alfadhel M; Dvorak C; Ogunsakin OA; Nelson SL; Morava E
    Am J Med Genet A; 2017 Oct; 173(10):2772-2775. PubMed ID: 28777499
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Similarity of Phenotype in Three Male Patients With the c.320A>G Variant in ALG13: Possible Genotype-Phenotype Correlation.
    Finnegan R; O'Regan M; White M; Cavalleri GL; Delanty N; Benson KA; Greally MT
    Mol Genet Genomic Med; 2024 Sep; 12(9):e70010. PubMed ID: 39311797
    [TBL] [Abstract][Full Text] [Related]  

  • 7. ALG13-CDG with Infantile Spasms in a Male Patient Due to a De Novo ALG13 Gene Mutation.
    Galama WH; Verhaagen-van den Akker SLJ; Lefeber DJ; Feenstra I; Verrips A
    JIMD Rep; 2018; 40():11-16. PubMed ID: 28887793
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Interaction between the C termini of Alg13 and Alg14 mediates formation of the active UDP-N-acetylglucosamine transferase complex.
    Gao XD; Moriyama S; Miura N; Dean N; Nishimura S
    J Biol Chem; 2008 Nov; 283(47):32534-41. PubMed ID: 18809682
    [TBL] [Abstract][Full Text] [Related]  

  • 9. ALG13-Congenital Disorder of Glycosylation (ALG13-CDG): Updated clinical and molecular review and clinical management guidelines.
    Shah R; Eklund EA; Radenkovic S; Sadek M; Shammas I; Verberkmoes S; Ng BG; Freeze HH; Edmondson AC; He M; Kozicz T; Altassan R; Morava E
    Mol Genet Metab; 2024 Jun; 142(2):108472. PubMed ID: 38703411
    [TBL] [Abstract][Full Text] [Related]  

  • 10. The First Metabolome Analysis in Children with Epilepsy and ALG13-CDG Resulting from c.320A>G Variant.
    Paprocka J; Jezela-Stanek A; Boguszewicz Ł; Sokół M; Lipiński P; Jamroz E; Emich-Widera E; Tylki-Szymańska A
    Children (Basel); 2021 Mar; 8(3):. PubMed ID: 33807002
    [TBL] [Abstract][Full Text] [Related]  

  • 11. An
    Wang CD; Xu S; Chen S; Chen ZH; Dean N; Wang N; Gao XD
    Front Cell Dev Biol; 2022; 10():1008078. PubMed ID: 36200043
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Could distal variants in ALG13 lead to atypical clinical presentation?
    Accogli A; Radenkovic S; Ranatunga W; Ligezka AN; Rivière JB; Morava E; Trakadis Y
    Eur J Med Genet; 2022 Apr; 65(4):104473. PubMed ID: 35240324
    [TBL] [Abstract][Full Text] [Related]  

  • 13. [New variant in the ALG13 gene responsible for the congenital disorder of Is-type glycosylation in a male patient].
    Ramírez-Montaño D; Candelo E; Pachajoa H
    Andes Pediatr; 2021 Oct; 92(5):769-776. PubMed ID: 35319586
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Alg14 recruits Alg13 to the cytoplasmic face of the endoplasmic reticulum to form a novel bipartite UDP-N-acetylglucosamine transferase required for the second step of N-linked glycosylation.
    Gao XD; Tachikawa H; Sato T; Jigami Y; Dean N
    J Biol Chem; 2005 Oct; 280(43):36254-62. PubMed ID: 16100110
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Long-term outcomes in ALG13-Congenital Disorder of Glycosylation.
    Shah R; Johnsen C; Pletcher BA; Edmondson AC; Kozicz T; Morava E
    Am J Med Genet A; 2023 Jun; 191(6):1626-1631. PubMed ID: 36930724
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Membrane topology of the Alg14 endoplasmic reticulum UDP-GlcNAc transferase subunit.
    Averbeck N; Keppler-Ross S; Dean N
    J Biol Chem; 2007 Oct; 282(40):29081-8. PubMed ID: 17686769
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Carbohydrate-deficient glycoprotein syndrome type II.
    Schachter H; Jaeken J
    Biochim Biophys Acta; 1999 Oct; 1455(2-3):179-92. PubMed ID: 10571011
    [TBL] [Abstract][Full Text] [Related]  

  • 18. The phenotypic spectrum of X-linked, infantile onset ALG13-related developmental and epileptic encephalopathy.
    Datta AN; Bahi-Buisson N; Bienvenu T; Buerki SE; Gardiner F; Cross JH; Heron B; Kaminska A; Korff CM; Lepine A; Lesca G; McTague A; Mefford HC; Mignot C; Milh M; Piton A; Pressler RM; Ruf S; Sadleir LG; de Saint Martin A; Van Gassen K; Verbeek NE; Ville D; Villeneuve N; Zacher P; Scheffer IE; Lemke JR
    Epilepsia; 2021 Feb; 62(2):325-334. PubMed ID: 33410528
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Clinical, biochemical and molecular phenotype of congenital disorders of glycosylation: long-term follow-up.
    Bogdańska A; Lipiński P; Szymańska-Rożek P; Jezela-Stanek A; Rokicki D; Socha P; Tylki-Szymańska A
    Orphanet J Rare Dis; 2021 Jan; 16(1):17. PubMed ID: 33407696
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Transferrin mutations at the glycosylation site complicate diagnosis of congenital disorders of glycosylation type I.
    Guillard M; Wada Y; Hansikova H; Yuasa I; Vesela K; Ondruskova N; Kadoya M; Janssen A; Van den Heuvel LP; Morava E; Zeman J; Wevers RA; Lefeber DJ
    J Inherit Metab Dis; 2011 Aug; 34(4):901-6. PubMed ID: 21431619
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 9.