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77 results
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Novel biallelic mutations in MEI1: expanding the phenotypic spectrum to human embryonic arrest and recurrent implantation failure.
Dong J, Zhang H, Mao X, Zhu J, Li D, Fu J, Hu J, Wu L, Chen B, Sun Y, Mu J, Zhang Z, Sun X, Zhao L, Wang W, Wang W, Zhou Z, Zeng Y, Du J, Li Q, He L, Jin L, Kuang Y, Wang L, Sang Q. Dong J, et al. Hum Reprod. 2021 Jul 19;36(8):2371-2381. doi: 10.1093/humrep/deab118. Hum Reprod. 2021. PMID: 34037756
STUDY QUESTION: Are any novel mutations and corresponding new phenotypes, other than recurrent hydatidiform moles, seen in patients with MEI1 mutations? SUMMARY ANSWER: We identified several novel mutations in MEI1 causing new phenotypes of early embryonic arrest an …
STUDY QUESTION: Are any novel mutations and corresponding new phenotypes, other than recurrent hydatidiform moles, seen in patients with …
Bi-allelic MEI1 variants cause meiosis arrest and non-obstructive azoospermia.
Zhang Y, Li N, Ji Z, Bai H, Ou N, Tian R, Li P, Zhi E, Huang Y, Zhao J, Han Y, Zhang J, Zhou Y, Li Z, Yao C. Zhang Y, et al. J Hum Genet. 2023 Feb 10. doi: 10.1038/s10038-023-01119-3. Online ahead of print. J Hum Genet. 2023. PMID: 36759719
Here, bi-allelic deleterious variants in meiosis inhibitor protein 1 (MEI1) were identified by whole-exome sequencing in four Chinese patients with NOA. ...In addition, our results showed that one missense variant (c.G186C) reduced the expression of MEI1 and one fra …
Here, bi-allelic deleterious variants in meiosis inhibitor protein 1 (MEI1) were identified by whole-exome sequencing in four Chinese …
Mei1 is epistatic to Dmc1 during mouse meiosis.
Reinholdt LG, Schimenti JC. Reinholdt LG, et al. Chromosoma. 2005 Jul;114(2):127-34. doi: 10.1007/s00412-005-0346-4. Epub 2005 Jun 1. Chromosoma. 2005. PMID: 15928951
To test this, we examined meiosis in Mei(m1Jcs)/Mei1(m1Jcs) (Mei1(-/-)) and Dmc1(tm1Jcs)/Dmc1(tm1Jcs) (Dmc1(-/-)) mice and mice homozygous at both loci (Dmc1(-/-) Mei1(-/-)), exploiting the fact that oogenesis is much more severely affected by the absence of …
To test this, we examined meiosis in Mei(m1Jcs)/Mei1(m1Jcs) (Mei1(-/-)) and Dmc1(tm1Jcs)/Dmc1(tm1Jcs) (Dmc1(-/-)) mice and mic …
Gene mutations impede oocyte maturation, fertilization, and early embryonic development.
Fei CF, Zhou LQ. Fei CF, et al. Bioessays. 2022 Oct;44(10):e2200007. doi: 10.1002/bies.202200007. Epub 2022 Jul 28. Bioessays. 2022. PMID: 35900055 Review.
In this review, we categorize these clinically-identified, mutated genetic factors by their molecular characteristics: nuclear factors (PALT2, TRIP13, WEE2, TBPL2, REC114, MEI1 and CDC20), cytoplasmic factors (TLE6, PADI6, NLRP2/5, FBXO43, MOS and BTG4), a factor unique to …
In this review, we categorize these clinically-identified, mutated genetic factors by their molecular characteristics: nuclear factors (PALT …
ZFP541 maintains the repression of pre-pachytene transcriptional programs and promotes male meiosis progression.
Xu J, Gao J, Liu J, Huang X, Zhang H, Ma A, Ye J, Zhang X, Li Y, Yang G, Yin H, Khan R, Li T, Fan S, Jiang X, Zhang Y, Jiang H, Ma H, Shi Q. Xu J, et al. Cell Rep. 2022 Mar 22;38(12):110540. doi: 10.1016/j.celrep.2022.110540. Cell Rep. 2022. PMID: 35320728 Free article.
Integrated analysis of single-cell RNA sequencing (scRNA-seq) and chromatin immunoprecipitation (ChIP) sequencing data indicate that ZFP541 predominantly binds to promoters of pre-pachytene genes, including meiotic DSB formation-related genes (e.g., Prdm9 and Mei1) and the …
Integrated analysis of single-cell RNA sequencing (scRNA-seq) and chromatin immunoprecipitation (ChIP) sequencing data indicate that ZFP541 …
A MEI1 homozygous missense mutation associated with meiotic arrest in a consanguineous family.
Ben Khelifa M, Ghieh F, Boudjenah R, Hue C, Fauvert D, Dard R, Garchon HJ, Vialard F. Ben Khelifa M, et al. Hum Reprod. 2018 Jun 1;33(6):1034-1037. doi: 10.1093/humrep/dey073. Hum Reprod. 2018. PMID: 29659827
Here, we report on a homozygous missense mutation in the gene coding for meiotic double-stranded break formation protein 1 (MEI1; c.C3307T:p.R1103W) observed in two brothers (from a consanguineous Tunisian family) with non-obstructive azoospermia and meiotic arrest. ...All …
Here, we report on a homozygous missense mutation in the gene coding for meiotic double-stranded break formation protein 1 (MEI1; c.C …
Recombination rates in pigs differ between breeds, sexes and individuals, and are associated with the RNF212, SYCP2, PRDM7, MEI1 and MSH4 loci.
Brekke C, Berg P, Gjuvsland AB, Johnston SE. Brekke C, et al. Genet Sel Evol. 2022 May 20;54(1):33. doi: 10.1186/s12711-022-00723-9. Genet Sel Evol. 2022. PMID: 35596132 Free PMC article.
Of these, four were close to or within candidate genes that have previously been associated with individual recombination rates in pigs and other mammals, namely RNF212, SYCP2 and MSH4. Two of the identified regions included the PRDM7 and MEI1 genes, which are known to be …
Of these, four were close to or within candidate genes that have previously been associated with individual recombination rates in pigs and …
Whole-genome sequencing identifies new candidate genes for nonobstructive azoospermia.
Malcher A, Stokowy T, Berman A, Olszewska M, Jedrzejczak P, Sielski D, Nowakowski A, Rozwadowska N, Yatsenko AN, Kurpisz MK. Malcher A, et al. Andrology. 2022 Nov;10(8):1605-1624. doi: 10.1111/andr.13269. Epub 2022 Sep 7. Andrology. 2022. PMID: 36017582 Free PMC article.
RESULTS: Using WGS, we revealed potential NOA-associated SNVs, such as: TKTL1, IGSF1, ZFPM2, VCX3A (novel disease causing variants), ESX1, TEX13A, TEX14, DNAH1, FANCM, QRICH2, FSIP2, USP9Y, PMFBP1, MEI1, PIWIL1, WDR66, ZFX, KCND1, KIAA1210, DHRSX, ZMYM3, FAM47C, FANCB, FAM …
RESULTS: Using WGS, we revealed potential NOA-associated SNVs, such as: TKTL1, IGSF1, ZFPM2, VCX3A (novel disease causing variants), ESX1, T …
The mouse meiotic mutation mei1 disrupts chromosome synapsis with sexually dimorphic consequences for meiotic progression.
Libby BJ, De La Fuente R, O'Brien MJ, Wigglesworth K, Cobb J, Inselman A, Eaker S, Handel MA, Eppig JJ, Schimenti JC. Libby BJ, et al. Dev Biol. 2002 Feb 15;242(2):174-87. doi: 10.1006/dbio.2001.0535. Dev Biol. 2002. PMID: 11820814 Free article.
mei1 (meiosis defective 1) is the first meiotic mutation in mice derived by phenotype-driven mutagenesis. ...Transcription of genes that are markers for the leptotene and zygotene stages, but not genes that are markers for the pachytene stage, was observed. mei1/
mei1 (meiosis defective 1) is the first meiotic mutation in mice derived by phenotype-driven mutagenesis. ...Transcription of genes t
77 results