133 related articles for article (PubMed ID: 38383446)
1. A severe case of cardiospondylocarpofacial syndrome with a novel MAP3K7 variant.
Nyuzuki H; Ozawa J; Nagasaki K; Nishio Y; Ogi T; Tohyama J; Ikeuchi T
Hum Genome Var; 2024 Feb; 11(1):8. PubMed ID: 38383446
[TBL] [Abstract][Full Text] [Related]
2. A novel variant in
AbuBakr F; Jeffries L; Ji W; McGrath JM; Lakhani SA
Cold Spring Harb Mol Case Stud; 2020 Jun; 6(3):. PubMed ID: 32299812
[TBL] [Abstract][Full Text] [Related]
3. Insights into the molecular pathogenesis of cardiospondylocarpofacial syndrome: MAP3K7 c.737-7A > G variant alters the TGFβ-mediated α-SMA cytoskeleton assembly and autophagy.
Micale L; Morlino S; Biagini T; Carbone A; Fusco C; Ritelli M; Giambra V; Zoppi N; Nardella G; Notarangelo A; Schirizzi A; Mazzoccoli G; Grammatico P; Wade EM; Mazza T; Colombi M; Castori M
Biochim Biophys Acta Mol Basis Dis; 2020 Jun; 1866(6):165742. PubMed ID: 32105826
[TBL] [Abstract][Full Text] [Related]
4. Heterozygous Mutations in MAP3K7, Encoding TGF-β-Activated Kinase 1, Cause Cardiospondylocarpofacial Syndrome.
Le Goff C; Rogers C; Le Goff W; Pinto G; Bonnet D; Chrabieh M; Alibeu O; Nistchke P; Munnich A; Picard C; Cormier-Daire V
Am J Hum Genet; 2016 Aug; 99(2):407-13. PubMed ID: 27426734
[TBL] [Abstract][Full Text] [Related]
5. Early and severe tricuspid valve dysplasia in a fetus with cardiospondylocarpofacial syndrome due to a variant c.616T>G p.(Tyr206Asp) in MAP3K7.
Vasishta S; Teli AS; Vasudeva A; Girisha KM; Nayak SS
Prenat Diagn; 2023 Jun; 43(6):721-723. PubMed ID: 37160697
[TBL] [Abstract][Full Text] [Related]
6. Expanding the phenotypic spectrum of cardiospondylocarpofacial syndrome: From a detailed clinical and radiological observation of a boy with a novel missense variant in MAP3K7.
Minatogawa M; Miyake N; Tsukahara Y; Tanabe Y; Uchiyama T; Matsumoto N; Kosho T
Am J Med Genet A; 2022 Jan; 188(1):350-356. PubMed ID: 34558790
[TBL] [Abstract][Full Text] [Related]
7. A novel MAP3K7 splice mutation causes cardiospondylocarpofacial syndrome with features of hereditary connective tissue disorder.
Morlino S; Castori M; Dordoni C; Cinquina V; Santoro G; Grammatico P; Venturini M; Colombi M; Ritelli M
Eur J Hum Genet; 2018 Apr; 26(4):582-586. PubMed ID: 29467388
[TBL] [Abstract][Full Text] [Related]
8. A novel MAP3K7 mutation in a child with cardiospondylocarpofacial syndrome and orofacial clefting.
Shepherd WB; Colaiacovo S; Campbell C; Saleh M
Clin Genet; 2023 Feb; 103(2):254-255. PubMed ID: 36320120
[TBL] [Abstract][Full Text] [Related]
9. Postnatal growth retardation, facial dysmorphism, spondylocarpal synostosis, cardiac defect, and inner ear malformation (cardiospondylocarpofacial syndrome?)--a distinct syndrome?
Sousa SB; Baujat G; Abadie V; Bonnet D; Sidi D; Munnich A; Krakow D; Cormier-Daire V
Am J Med Genet A; 2010 Mar; 152A(3):539-46. PubMed ID: 20186786
[TBL] [Abstract][Full Text] [Related]
10. The MAP3K7 gene: Further delineation of clinical characteristics and genotype/phenotype correlations.
van Woerden GM; Senden R; de Konink C; Trezza RA; Baban A; Bassetti JA; van Bever Y; Bird LM; van Bon BW; Brooks AS; Guan Q; Klee EW; Marcelis C; Rosado JM; Schimmenti LA; Shikany AR; Terhal PA; Nicole Weaver K; Wessels MW; van Wieringen H; Hurst AC; Gooch CF; Steindl K; Joset P; Rauch A; Tartaglia M; Niceta M; Elgersma Y; Demirdas S
Hum Mutat; 2022 Oct; 43(10):1377-1395. PubMed ID: 35730652
[TBL] [Abstract][Full Text] [Related]
11. Generation of the induced pluripotent stem cell line UNIBSi017-A from an individual with cardiospondylocarpofacial syndrome and the MAP3K7 c.737-7A > G variant.
Calamaio S; Serzanti M; Morlino S; Massardi M; Ritelli M; Piovani G; Colombi M; Cortellini V; Castori M; Dell'Era P; Micale L
Stem Cell Res; 2022 Aug; 63():102837. PubMed ID: 35700636
[TBL] [Abstract][Full Text] [Related]
12. Expansion of the clinical spectrum of frontometaphyseal dysplasia 2 caused by the recurrent mutation p.Pro485Leu in MAP3K7.
Costantini A; Wallgren-Pettersson C; Mäkitie O
Eur J Med Genet; 2018 Oct; 61(10):612-615. PubMed ID: 29660408
[TBL] [Abstract][Full Text] [Related]
13. MAP3K7 is recurrently deleted in pediatric T-lymphoblastic leukemia and affects cell proliferation independently of NF-κB.
Cordas Dos Santos DM; Eilers J; Sosa Vizcaino A; Orlova E; Zimmermann M; Stanulla M; Schrappe M; Börner K; Grimm D; Muckenthaler MU; Kulozik AE; Kunz JB
BMC Cancer; 2018 Jun; 18(1):663. PubMed ID: 29914415
[TBL] [Abstract][Full Text] [Related]
14. Spondylocarpotarsal synostosis syndrome. A rare case of short stature and congenital scoliosis.
Mangaraj S; Choudhury AK; Singh M; Patro D; Baliarsinha AK
Clin Cases Miner Bone Metab; 2017; 14(2):258-261. PubMed ID: 29263747
[TBL] [Abstract][Full Text] [Related]
15. Nievergelt-Pearlman syndrome with impairment of hearing. Report of three cases in a family.
Murakami Y
J Bone Joint Surg Br; 1975 Aug; 57(3):367-72. PubMed ID: 1158949
[TBL] [Abstract][Full Text] [Related]
16. MAP3K7-IKK Inflammatory Signaling Modulates AR Protein Degradation and Prostate Cancer Progression.
Huang Z; Tang B; Yang Y; Yang Z; Shi L; Bai Y; Yan B; Karnes RJ; Zhang J; Jimenez R; Wang L; Wei Q; Yang J; Xu W; Jia Z; Huang H
Cancer Res; 2021 Sep; 81(17):4471-4484. PubMed ID: 34158377
[TBL] [Abstract][Full Text] [Related]
17. Growth restriction and congenital heart disease caused by a novel
Deng Q; Wang X; Gao J; Xia X; Wang Y; Zhang Y; Chen Y
Exp Ther Med; 2023 Jun; 25(6):258. PubMed ID: 37153890
[TBL] [Abstract][Full Text] [Related]
18. TAK1/Map3k7 enhances differentiation of cardiogenic endoderm from mouse embryonic stem cells.
Hunter A; Dai Y; Brown KJ; Muise-Helmericks RC; Foley AC
J Mol Cell Cardiol; 2019 Dec; 137():132-142. PubMed ID: 31668971
[TBL] [Abstract][Full Text] [Related]
19. An exceptional Albanian family with seven children presenting with dysmorphic features and mental retardation: maternal phenylketonuria.
Knerr I; Zschocke J; Schellmoser S; Topf HG; Weigel C; Dötsch J; Rascher W
BMC Pediatr; 2005 Apr; 5(1):5. PubMed ID: 15811181
[TBL] [Abstract][Full Text] [Related]
20.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
[Next] [New Search]
