日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

CDK4 loss-of-function mutations cause microcephaly and short stature.

CDK4 功能丧失突变会导致小头畸形和身材矮小

Verdu Schlie Aitana, Leitch Andrea, Arismendi Maria Izabel, Stok Colin, Castro Leal Andrea, Parry David A, Marcondes Lerario Antonio, Harley Margaret E, Lucheze Bruna, Carroll Paula L, Musialik Kamila I, Auer Julia M T, Martin Carol-Anne, Gerasimavicius Lukas, Quigley Alan J, de Menezes Correia-Deur Joya Emilie, Marsh Joseph A, Reijns Martin A M, Lampe Anne K, Jackson Andrew P, Jorge Alexander A L, Tamayo-Orrego Lukas

Heterozygous lamin B1 and lamin B2 variants cause primary microcephaly and define a novel laminopathy

层粘蛋白B1和层粘蛋白B2的杂合变异会导致原发性小头畸形,并定义了一种新的层粘蛋白病。

Parry, David A; Martin, Carol-Anne; Greene, Philip; Marsh, Joseph A; Blyth, Moira; Cox, Helen; Donnelly, Deirdre; Greenhalgh, Lynn; Greville-Heygate, Stephanie; Harrison, Victoria; Lachlan, Katherine; McKenna, Caoimhe; Quigley, Alan J; Rea, Gillian; Robertson, Lisa; Suri, Mohnish; Jackson, Andrew P

Corrigendum: Mutations in genes encoding condensins cause microcephaly through decatenation failure at mitosis

更正:编码凝聚素的基因突变会导致有丝分裂过程中解链失败,从而引起小头畸形。

Martin, Carol-Anne; Murray, Jennie E; Carroll, Paula; Leitch, Andrea; MacKenzie, Karen J; Halachev, Mihail; Fetit, Ahmed E; Keith, Charlotte; Bicknell, Louise S; Fluteau, Adeline; Gautier, Philippe; Hall, Emma A; Joss, Shelagh; Soares, Gabriela; Silva, João; Bober, Michael B; Duker, Angela; Wise, Carol A; Quigley, Alan J; Phadke, Shubha R; Wood, Andrew J; Vagnarelli, Paola; Jackson, Andrew P