| Nephrotic-syndrome-associated mutation of KANK2 induces pathologic binding competition with physiological interactor KIF21A. | Nephrotic-syndrome-associated mutation of KANK2 induces pathologic binding competition with physiological interactor KIF21A.
Xu Y, Guo C, Pan W, Zhao C, Ding Y, Xie X, Wei Z, Sun Y, Yu C., Free PMC Article | 07/26/2024 |
| Phenotypic heterogeneity associated with KIF21A: Two new cases and review of the literature. | Phenotypic heterogeneity associated with KIF21A: Two new cases and review of the literature.
Bhola PT, Mishra R, Posey JE, Hamilton LE, Graham GE, Punetha J, Care4Rare Canada Consortium, Lupski JR, Boycott KM, D'Amours D, Kernohan KD. | 02/16/2024 |
| Bi-allelic loss-of-function variants in KIF21A cause severe fetal akinesia with arthrogryposis multiplex. | Bi-allelic loss-of-function variants in KIF21A cause severe fetal akinesia with arthrogryposis multiplex.
Falb RJ, Müller AJ, Klein W, Grimmel M, Grasshoff U, Spranger S, Stöbe P, Gauck D, Kuechler A, Dikow N, Schwaibold EMC, Schmidt C, Averdunk L, Buchert R, Heinrich T, Prodan N, Park J, Kehrer M, Sturm M, Kelemen O, Hartmann S, Horn D, Emmerich D, Hirt N, Neumann A, Kristiansen G, Gembruch U, Haen S, Siebert R, Hentze S, Hoopmann M, Ossowski S, Waldmüller S, Beck-Wödl S, Gläser D, Tekesin I, Distelmaier F, Riess O, Kagan KO, Dufke A, Haack TB., Free PMC Article | 01/7/2023 |
| [Identification of a novel KIF21A gene mutation in a Chinese family with congenital fibrosis of the extraocular muscles]. | [Identification of a novel KIF21A gene mutation in a Chinese family with congenital fibrosis of the extraocular muscles].
Xia CR, Shi LH, Nan J, Hao YZ, Jia Y. | 03/26/2022 |
| KIF21A regulates breast cancer aggressiveness and is prognostic of patient survival and tumor recurrence. | KIF21A regulates breast cancer aggressiveness and is prognostic of patient survival and tumor recurrence.
Lucanus AJ, Thike AA, Tan XF, Lee KW, Guo S, King VPC, Yap VB, Bay BH, Tan PH, Yip GW. | 01/22/2022 |
| KIF21A pathogenic variants cause congenital fibrosis of extraocular muscles type 3. | KIF21A pathogenic variants cause congenital fibrosis of extraocular muscles type 3.
Al-Haddad C, Boustany RM, Rachid E, Ismail K, Barry B, Chan WM, Engle E., Free PMC Article | 09/4/2021 |
| Outcomes of strabismus surgery in genetically confirmed congenital fibrosis of the extraocular muscles. | Outcomes of strabismus surgery in genetically confirmed congenital fibrosis of the extraocular muscles.
Heidary G, Mackinnon S, Elliott A, Barry BJ, Engle EC, Hunter DG., Free PMC Article | 04/13/2021 |
| Prognostic value of Kinesin-4 family genes mRNA expression in early-stage pancreatic ductal adenocarcinoma patients after pancreaticoduodenectomy. | Prognostic value of Kinesin-4 family genes mRNA expression in early-stage pancreatic ductal adenocarcinoma patients after pancreaticoduodenectomy.
Han Q, Han C, Liao X, Huang K, Wang X, Yu T, Yang C, Li G, Han B, Zhu G, Liu Z, Zhou X, Liu J, Su H, Shang L, Peng T, Ye X., Free PMC Article | 08/29/2020 |
| Several key residues (i.e. Thr-1147, Leu-1152, Leu-1153, and Tyr-1154) at the C-terminal half of the KIF21A KBD peptide contact with the hydrophobic patch formed by Tyr-1176, Met-1209, Leu-1210, Leu-1213, and Leu-1248 from KANK1. | Structural analyses of key features in the KANK1·KIF21A complex yield mechanistic insights into the cross-talk between microtubules and the cell cortex.
Weng Z, Shang Y, Yao D, Zhu J, Zhang R., Free PMC Article | 12/1/2018 |
| We describe a recurrent (c.2860C>T) missense KIF21A mutation identified in a Chinese family with CFEOM1 (congenital fibrosis of the extraocular muscles type 1) phenotypes. | Clinical characteristics of a KIF21A mutation in a Chinese family with congenital fibrosis of the extraocular muscles type 1.
Chen H, Liu T, Zeng Z, Wang Y, Lin Y, Cheng L, Pan Q, Gu F, Song Z, Zhang Z., Free PMC Article | 09/30/2017 |
| A heterozygous mutation, c.2860C>T (p.R954W), in KIF21A was identified in two families with congenital fibrosis of the extraocular muscles type 1 and 3, and this was cosegregated with the presence of the diseases in the two families, however, it was absent in the 200 normal control subjects. | KIF21A mutation in two Chinese families with congenital fibrosis of the extraocular muscles type 1 and 3.
Chen J, Ye Q, Deng D, Yan J, Lin H, Shen T, Lin Y., Free PMC Article | 04/8/2017 |
| We explain the phenotypic findings associated with mutations in KIF21A | A rare case of congenital fibrosis of extraocular muscle type 1A due to KIF21A mutation with Marcus Gunn jaw-winking phenomenon.
Kaçar Bayram A, Per H, Quon J, Canpolat M, Ülgen E, Doğan H, Gumus H, Kumandas S, Bayram N, Bilguvar K, Çağlayan AO. | 05/28/2016 |
| Germline mosaicism of KIF21A c.2860C>T is likely to cause the high occurrence of this mutation in the population. | Maternal germline mosaicism of kinesin family member 21A (KIF21A) mutation causes complex phenotypes in a Chinese family with congenital fibrosis of the extraocular muscles.
Liu G, Chen X, Sun X, Liu H, Zhao K, Chang Q, Pan X, Wang X, Yuan S, Liu Q, Zhao C., Free PMC Article | 10/4/2014 |
| This study demonistrated that the interaction between Kif21a and Map1b is likely to play a critical role in the pathogenesis of CFEOM1 and highlights a selective vulnerability of the developing oculomotor nerve to perturbations of the axon cytoskeleton. | Human CFEOM1 mutations attenuate KIF21A autoinhibition and cause oculomotor axon stalling.
Cheng L, Desai J, Miranda CJ, Duncan JS, Qiu W, Nugent AA, Kolpak AL, Wu CC, Drokhlyansky E, Delisle MM, Chan WM, Wei Y, Propst F, Reck-Peterson SL, Fritzsch B, Engle EC., Free PMC Article | 06/7/2014 |
| CFEOM1-associated mutations relieve autoinhibition of the KIF21A motor, and this results in enhanced KIF21A accumulation in axonal growth cones, aberrant axon morphology, and reduced responsiveness to inhibitory cues. | CFEOM1-associated kinesin KIF21A is a cortical microtubule growth inhibitor.
van der Vaart B, van Riel WE, Doodhi H, Kevenaar JT, Katrukha EA, Gumy L, Bouchet BP, Grigoriev I, Spangler SA, Yu KL, Wulf PS, Wu J, Lansbergen G, van Battum EY, Pasterkamp RJ, Mimori-Kiyosue Y, Demmers J, Olieric N, Maly IV, Hoogenraad CC, Akhmanova A. | 01/18/2014 |
| The data of this study suggested that KIF21A gene expression could have a role on the axonal transport and the development of the nervous system with implications on the resulting phenotype of subjects with Down syndrome. | KIF21A mRNA expression in patients with Down syndrome.
Salemi M, Barone C, Romano C, Ridolfo F, Scavuzzo C, Cantarella RA, Salluzzo MG, Calogero AE, Romano C, Bosco P. | 09/28/2013 |
| Congenital fibrosis of extraocular muscle assciated with KIF21A mutation. | Congenital fibrosis of extraocular muscle type 1A due to KIF21A mutation: first case report from Hong Kong.
Luk HM, Lo IF, Lai CW, Ma LC, Tong TM, Chan DH, Lam ST. | 09/21/2013 |
| The diffuse and widespread expression of KIF21A in the developing human and mouse central and peripheral nervous system as well as in extraocular muscle does not account for the restricted ocular phenotype observed in Congenital fibrosis of the extraocular muscles type 1. | Spatiotemporal expression pattern of KIF21A during normal embryonic development and in congenital fibrosis of the extraocular muscles type 1 (CFEOM1).
Desai J, Velo MP, Yamada K, Overman LM, Engle EC., Free PMC Article | 11/24/2012 |
| Expression of RRP1B, PCNT, KIF21A and ADRB2 in leucocytes of Down's syndrome subjects, was analyzed. | Gene expression profiling and qRT-PCR expression of RRP1B, PCNT, KIF21A and ADRB2 in leucocytes of Down's syndrome subjects.
Salemi M, Barone C, Romano C, Zolezzi F, Romano C, Scavuzzo C, Salluzzo R, Scillato F, Signorelli M, Kapetis D, Salluzzo MG, Bosco P. | 09/8/2012 |
| This study indicated that KIF21A-mediated axonal transport and selective somatodendritic endocytosis underlie the axonal polarized surface expression of NCKX2. | KIF21A-mediated axonal transport and selective endocytosis underlie the polarized targeting of NCKX2.
Lee KH, Lee JS, Lee D, Seog DH, Lytton J, Ho WK, Lee SH., Free PMC Article | 05/19/2012 |
| KIF21A novel deletion and recurrent mutation have been fonund in Chinese patients with congenital fibrosis of the extraocular muscles-1. | KIF21A novel deletion and recurrent mutation in patients with congenital fibrosis of the extraocular muscles-1.
Wang P, Li S, Xiao X, Guo X, Zhang Q. | 01/28/2012 |
| This Chinese family with congenital fibrosis of the extraocular muscles type I(CFEOM1) may be caused by a c.2860C to T mutation in the KIF21A gene. | [Mutation analysis of KIF21A gene in a Chinese family with congenital fibrosis of the extraocular muscles type I].
Yan YS, Hao SJ, Wang G, Peng L, Hu XP, Jiao HY. | 12/10/2011 |
| patients with congenital fibrosis of the extraocular muscles type I patients from consanguineous Saudi Arabian families do not have KIF21A mutations | Lack of KIF21A mutations in congenital fibrosis of the extraocular muscles type I patients from consanguineous Saudi Arabian families.
Khan AO, Shinwari J, Omar A, Al-Sharif L, Khalil DS, Alanazi M, Al-Amri A, Al Tassan N., Free PMC Article | 05/28/2011 |
| The observation of these two KIF21A mutations in a Chinese pedigree underscores the homogeneity of these mutations as a cause of congenital fibrosis of the extraocular muscles CFEOM1 and CFEOM3 across ethnic divisions. | KIF21A mutations in two Chinese families with congenital fibrosis of the extraocular muscles (CFEOM).
Yang X, Yamada K, Katz B, Guan H, Wang L, Andrews C, Zhao G, Engle EC, Chen H, Tong Z, Kong J, Hu C, Kong Q, Fan G, Wang Z, Ning M, Zhang S, Xu J, Zhang K., Free PMC Article | 02/26/2011 |
| Parental germline mosaicism can mimic recessive inheritance in congenital fibrosis of the extraocular muscles (CFEOM) and likely is underrecognized. | Germline Mosaicism for KIF21A Mutation (p.R954L) Mimicking Recessive Inheritance for Congenital Fibrosis of the Extraocular Muscles.
Khan AO, Khalil DS, Al Sharif LJ, Al-Ghadhfan FE, Al Tassan NA. | 02/22/2010 |