| Single amino acid variation in MAB21L1 is dominantly associated with congenital eye defects. | Single amino acid variation in MAB21L1 is dominantly associated with congenital eye defects.
Meng F, Li X, Zhang J, Gao Z, Yang X, Liu Z, Liu Y, Guo T, Wang L, Yang L, Wang Z. | 06/23/2023 |
| Missense Mutations in MAB21L1: Causation of Novel Autosomal Dominant Ocular BAMD Syndrome. | Missense Mutations in MAB21L1: Causation of Novel Autosomal Dominant Ocular BAMD Syndrome.
Wang P, Wu P, Wang J, Zeng Y, Jiang Y, Wang Y, Li S, Xiao X, Zhang Q., Free PMC Article | 03/16/2023 |
| Monoallelic variants resulting in substitutions of MAB21L1 Arg51 Cause Aniridia and microphthalmia. | Monoallelic variants resulting in substitutions of MAB21L1 Arg51 Cause Aniridia and microphthalmia.
Hall HN, Bengani H, Hufnagel RB, Damante G, Ansari M, Marsh JA, Grimes GR, Kriegsheim AV, Moore D, McKie L, Rahmat J, Mio C, Blyth M, Keng WT, Islam L, McEntargart M, Mannens MM, Heyningen VV, Rainger J, Brooks BP, FitzPatrick DR., Free PMC Article | 12/3/2022 |
| Identification of missense MAB21L1 variants in microphthalmia and aniridia. | Identification of missense MAB21L1 variants in microphthalmia and aniridia.
Seese SE, Reis LM, Deml B, Griffith C, Reich A, Jamieson RV, Semina EV., Free PMC Article | 04/9/2022 |
| This report defines an ultrarare but clinically recognisable Cerebello-Oculo-Facio-Genital syndrome associated with recessive MAB21L1 variants. Additionally, our findings further support the critical role of MAB21L1 in cerebellum, lens, genitalia and as craniofacial morphogenesis. | MAB21L1 loss of function causes a syndromic neurodevelopmental disorder with distinctive cerebellar, ocular, craniofacial and genital features (COFG syndrome).
Rad A, Altunoglu U, Miller R, Maroofian R, James KN, Çağlayan AO, Najafi M, Stanley V, Boustany RM, Yeşil G, Sahebzamani A, Ercan-Sencicek G, Saeidi K, Wu K, Bauer P, Bakey Z, Gleeson JG, Hauser N, Gunel M, Kayserili H, Schmidts M., Free PMC Article | 06/6/2020 |
| Mab21l1-/- osteoblasts also expressed higher levels of adipocyte genes and interferon-regulated genes at early stages of osteogenesis | Involvement of the Mab21l1 gene in calvarial osteogenesis.
Nguyen D, Yamada R, Yoshimitsu N, Oguri A, Kojima T, Takahashi N. | 08/11/2018 |
| offer a structure-based explanation for the effects of MAB21L2 mutations in patients with eye malformations | Structural and biochemical characterization of the cell fate determining nucleotidyltransferase fold protein MAB21L1.
de Oliveira Mann CC, Kiefersauer R, Witte G, Hopfner KP., Free PMC Article | 05/5/2018 |
| mab21 gene family members, mab21l1 and mab21l2, play important roles in regulating eye development. [review] | The Male Abnormal Gene Family 21 (Mab21) Members Regulate Eye Development.
Huang ZX, Xiang JW, Zhou L, Nie Q, Wang L, Chen ZG, Hu XH, Xiao Y, Qing WJ, Liu YF, Sun Q, Tang XC, Liu FY, Luo ZW, Liu WB, Li DW. | 11/26/2017 |
| We hypothesize that MAB21L1 haploinsufficiency cause a previously undescribed syndrome with scrotal agenesis, ophthalmological anomalies, facial dysmorphism and gross psychomotor delay as remarkable hallmarks. | Autosomal recessive truncating MAB21L1 mutation associated with a syndromic scrotal agenesis.
Bruel AL, Masurel-Paulet A, Rivière JB, Duffourd Y, Lehalle D, Bensignor C, Huet F, Borgnon J, Roucher F, Kuentz P, Deleuze JF, Thauvin-Robinet C, Faivre L, Thevenon J. | 07/1/2017 |
| MEF is involved in PTH suppression of osteoblasts through activating the MKK4/JNK1 pathway and subsequently up-regulating Mab21l1 expression. | PTH regulates myleoid ELF-1-like factor (MEF)-induced MAB-21-like-1 (MAB21L1) expression through the JNK1 pathway.
Kim BG, Park YJ, Libermann TA, Cho JY. | 11/5/2011 |
| Observational study of gene-disease association. (HuGE Navigator) | Association and linkage studies between bipolar affective disorder and the polymorphic CAG/CTG repeat loci ERDA1, SEF2-1B, MAB21L and KCNN3.
Meira-Lima IV, Zhao J, Sham P, Pereira AC, Krieger JE, Vallada H. | 03/13/2008 |