204 related articles for article (PubMed ID: 30448303)
1. Lamin B receptor-related disorder is associated with a spectrum of skeletal dysplasia phenotypes.
Thompson E; Abdalla E; Superti-Furga A; McAlister W; Kratz L; Unger S; Royer-Bertrand B; Campos-Xavier B; Mittaz-Crettol L; Amin AK; DeSanto C; Wilson DB; Douglas G; Kozel B; Shinawi M
Bone; 2019 Mar; 120():354-363. PubMed ID: 30448303
[TBL] [Abstract][Full Text] [Related]
2. Antenatal diagnostic dilemma in a pseudodominant pedigree with lamin-B receptor (LBR)-related regressive spondylometaphyseal dysplasia.
Turgut GT; Güleç Ç; Sarac Sivrikoz T; Kale H; Karaman B; Nishimura G; Altunoglu U
Am J Med Genet A; 2022 Jan; 188(1):253-258. PubMed ID: 34467646
[TBL] [Abstract][Full Text] [Related]
3. Mutations causing Greenberg dysplasia but not Pelger anomaly uncouple enzymatic from structural functions of a nuclear membrane protein.
Clayton P; Fischer B; Mann A; Mansour S; Rossier E; Veen M; Lang C; Baasanjav S; Kieslich M; Brossuleit K; Gravemann S; Schnipper N; Karbasyian M; Demuth I; Zwerger M; Vaya A; Utermann G; Mundlos S; Stricker S; Sperling K; Hoffmann K
Nucleus; 2010; 1(4):354-66. PubMed ID: 21327084
[TBL] [Abstract][Full Text] [Related]
4. A homozygous variant in the Lamin B receptor gene LBR results in a non-lethal skeletal dysplasia without Pelger-Huët anomaly.
Collins M; Miranda V; Rousseau J; Kratz LE; Campeau PM
Bone; 2020 Dec; 141():115601. PubMed ID: 32827848
[TBL] [Abstract][Full Text] [Related]
5. A novel case of Greenberg dysplasia and genotype-phenotype correlation analysis for LBR pathogenic variants: An instructive example of one gene-multiple phenotypes.
Giorgio E; Sirchia F; Bosco M; Sobreira NLM; ; Grosso E; Brussino A; Brusco A
Am J Med Genet A; 2019 Feb; 179(2):306-311. PubMed ID: 30561119
[TBL] [Abstract][Full Text] [Related]
6. An anadysplasia-like, spontaneously remitting spondylometaphyseal dysplasia secondary to lamin B receptor (LBR) gene mutations: further definition of the phenotypic heterogeneity of LBR-bone dysplasias.
Sobreira N; Modaff P; Steel G; You J; Nanda S; Hoover-Fong J; Valle D; Pauli RM
Am J Med Genet A; 2015 Jan; 167A(1):159-63. PubMed ID: 25348816
[TBL] [Abstract][Full Text] [Related]
7. Pelger-huet anomaly and a mild skeletal phenotype secondary to mutations in LBR.
Borovik L; Modaff P; Waterham HR; Krentz AD; Pauli RM
Am J Med Genet A; 2013 Aug; 161A(8):2066-73. PubMed ID: 23824842
[TBL] [Abstract][Full Text] [Related]
8. A new case of Greenberg dysplasia and literature review suggest that Greenberg dysplasia, dappled diaphyseal dysplasia, and Astley-Kendall dysplasia are allelic disorders.
Gregersen PA; McKay V; Walsh M; Brown E; McGillivray G; Savarirayan R
Mol Genet Genomic Med; 2020 Jun; 8(6):e1173. PubMed ID: 32304187
[TBL] [Abstract][Full Text] [Related]
9. Pelger-Huët anomaly and Greenberg skeletal dysplasia: LBR-associated diseases of cholesterol metabolism.
Turner EM; Schlieker C
Rare Dis; 2016; 4(1):e1241363. PubMed ID: 27830109
[TBL] [Abstract][Full Text] [Related]
10. The Lamin B receptor is essential for cholesterol synthesis and perturbed by disease-causing mutations.
Tsai PL; Zhao C; Turner E; Schlieker C
Elife; 2016 Jun; 5():. PubMed ID: 27336722
[TBL] [Abstract][Full Text] [Related]
11. Prenatal diagnosis of recurrent moderate skeletal dysplasias in lamin B receptors.
Shen X; Li Z; Pan X; Yao J; Shen G; Zhang S; Dong M; Fan L
Front Genet; 2022; 13():1020475. PubMed ID: 36712868
[TBL] [Abstract][Full Text] [Related]
12. Autosomal recessive HEM/Greenberg skeletal dysplasia is caused by 3 beta-hydroxysterol delta 14-reductase deficiency due to mutations in the lamin B receptor gene.
Waterham HR; Koster J; Mooyer P; Noort Gv Gv; Kelley RI; Wilcox WR; Wanders RJ; Hennekam RC; Oosterwijk JC
Am J Hum Genet; 2003 Apr; 72(4):1013-7. PubMed ID: 12618959
[TBL] [Abstract][Full Text] [Related]
13. Fly clock, my clock, and lamin B receptor.
Kasbekar DP
J Genet; 2024; 103():. PubMed ID: 38185834
[TBL] [Abstract][Full Text] [Related]
14. Mutations at the mouse ichthyosis locus are within the lamin B receptor gene: a single gene model for human Pelger-Huët anomaly.
Shultz LD; Lyons BL; Burzenski LM; Gott B; Samuels R; Schweitzer PA; Dreger C; Herrmann H; Kalscheuer V; Olins AL; Olins DE; Sperling K; Hoffmann K
Hum Mol Genet; 2003 Jan; 12(1):61-9. PubMed ID: 12490533
[TBL] [Abstract][Full Text] [Related]
15. Deletion of LBR N-terminal domains recapitulates Pelger-Huet anomaly phenotypes in mouse without disrupting X chromosome inactivation.
Young AN; Perlas E; Ruiz-Blanes N; Hierholzer A; Pomella N; Martin-Martin B; Liverziani A; Jachowicz JW; Giannakouros T; Cerase A
Commun Biol; 2021 Apr; 4(1):478. PubMed ID: 33846535
[TBL] [Abstract][Full Text] [Related]
16. Mutations in the gene encoding the lamin B receptor produce an altered nuclear morphology in granulocytes (Pelger-Huët anomaly).
Hoffmann K; Dreger CK; Olins AL; Olins DE; Shultz LD; Lucke B; Karl H; Kaps R; Müller D; Vayá A; Aznar J; Ware RE; Sotelo Cruz N; Lindner TH; Herrmann H; Reis A; Sperling K
Nat Genet; 2002 Aug; 31(4):410-4. PubMed ID: 12118250
[TBL] [Abstract][Full Text] [Related]
17. Lamin B Receptor: Interplay between Structure, Function and Localization.
Nikolakaki E; Mylonis I; Giannakouros T
Cells; 2017 Aug; 6(3):. PubMed ID: 28858257
[TBL] [Abstract][Full Text] [Related]
18. Lamin B-receptor mutations in Pelger-Huët anomaly.
Best S; Salvati F; Kallo J; Garner C; Height S; Thein SL; Rees DC
Br J Haematol; 2003 Nov; 123(3):542-4. PubMed ID: 14617022
[TBL] [Abstract][Full Text] [Related]
19. HEM dysplasia and ichthyosis are likely laminopathies and not due to 3beta-hydroxysterol Delta14-reductase deficiency.
Wassif CA; Brownson KE; Sterner AL; Forlino A; Zerfas PM; Wilson WK; Starost MF; Porter FD
Hum Mol Genet; 2007 May; 16(10):1176-87. PubMed ID: 17403717
[TBL] [Abstract][Full Text] [Related]
20. The danger of "multi-tasking": LBR out of control.
Herrmann H; Zwerger M
Nucleus; 2010; 1(4):319-24. PubMed ID: 21327079
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
