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Quoted phrase not found in phrase index: "Inherited oocyte maturation defect"
Page 1
Trans-acting genetic variants causing multilocus imprinting disturbance (MLID): common mechanisms and consequences.
Eggermann T, Yapici E, Bliek J, Pereda A, Begemann M, Russo S, Tannorella P, Calzari L, de Nanclares GP, Lombardi P, Temple IK, Mackay D, Riccio A, Kagami M, Ogata T, Lapunzina P, Monk D, Maher ER, Tümer Z. Eggermann T, et al. Clin Epigenetics. 2022 Mar 16;14(1):41. doi: 10.1186/s13148-022-01259-x. Clin Epigenetics. 2022. PMID: 35296332 Free PMC article.
To date, at least twelve imprinting disorders have been defined with overlapping but variable clinical features including growth and metabolic disturbances, cognitive dysfunction, abdominal wall defects and asymmetry. In general, a single specific DMR is affected in an ind …
To date, at least twelve imprinting disorders have been defined with overlapping but variable clinical features including growth and metabol …
Bi-allelic variants in ASTL cause abnormal fertilization or oocyte maturation defects.
Zeng Y, Chen B, Sun Y, Yang A, Wu L, Li B, Mu J, Zhang Z, Wang W, Zhou Z, Dong J, Liu R, Luo Y, Sun X, Sang Q, Kuang Y, Wang L. Zeng Y, et al. Hum Mol Genet. 2023 Jul 4;32(14):2326-2334. doi: 10.1093/hmg/ddad070. Hum Mol Genet. 2023. PMID: 37133443
In clinical practice, some couples undergoing recurrent IVF failures that mature oocytes had abnormal fertilization for unknown reason. Ovastacin encoded by ASTL cleave the ZP protein ZP2 and play a key role in preventing polyspermy. ...All four independent affected …
In clinical practice, some couples undergoing recurrent IVF failures that mature oocytes had abnormal fertilization for unknow …
Preconception genome medicine: current state and future perspectives to improve infertility diagnosis and reproductive and health outcomes based on individual genomic data.
Capalbo A, Poli M, Riera-Escamilla A, Shukla V, Kudo Høffding M, Krausz C, Hoffmann ER, Simon C. Capalbo A, et al. Hum Reprod Update. 2021 Feb 19;27(2):254-279. doi: 10.1093/humupd/dmaa044. Hum Reprod Update. 2021. PMID: 33197264 Review.
The use of preconception GS has the potential to identify inheritable genetic conditions concealed in the genome of around 4% of couples looking to conceive. ...Genetic variants correlated with differential response to pharmaceutical treatment in IVF, and clear genotype-ph …
The use of preconception GS has the potential to identify inheritable genetic conditions concealed in the genome of around 4% of coup …
Novel variants in TUBB8 gene cause multiple phenotypic abnormalities in human oocytes and early embryos.
Hu T, Li C, Qiao S, Liu W, Han W, Li W, Shi R, Xue X, Shi J, Huang G, Lin T. Hu T, et al. J Ovarian Res. 2023 Nov 25;16(1):228. doi: 10.1186/s13048-023-01274-3. J Ovarian Res. 2023. PMID: 38007525 Free PMC article.
Pedigree analysis, in-silico analysis and molecular remodeling were performed to assess their clinical significance. The effects of the variants on human oocytes and embryos as well as HeLa cells were analyzed by morphological observations, immunostaining and Wester …
Pedigree analysis, in-silico analysis and molecular remodeling were performed to assess their clinical significance. The effects of the vari …
Biogenesis of peroxisomes in fetal liver.
Espeel M, Depreter M, Nardacci R, D'Herde K, Kerckaert I, Stefanini S, Roels F. Espeel M, et al. Microsc Res Tech. 1997 Dec 1;39(5):453-66. doi: 10.1002/(SICI)1097-0029(19971201)39:5<453::AID-JEMT8>3.0.CO;2-H. Microsc Res Tech. 1997. PMID: 9408912 Review.
In the quail ovary, numerous peroxisomes are observed in the oocyte and in the granulosa cells during follicle maturation, but not in the full-grown egg. Thus, the mechanism of peroxisome inheritance remains unresolved....
In the quail ovary, numerous peroxisomes are observed in the oocyte and in the granulosa cells during follicle maturation …
Preferential Maternal Transmission of STX16-GNAS Mutations Responsible for Autosomal Dominant Pseudohypoparathyroidism Type Ib (PHP1B): Another Example of Transmission Ratio Distortion.
Kiuchi Z, Reyes M, Jüppner H. Kiuchi Z, et al. J Bone Miner Res. 2021 Apr;36(4):696-703. doi: 10.1002/jbmr.4221. Epub 2020 Dec 27. J Bone Miner Res. 2021. PMID: 33247854 Free PMC article.
If inherited from a female, these genetic defects lead to loss-of-methylation at exon A/B alone or at all three differentially methylated regions (DMR), resulting in parathyroid hormone (PTH)-resistant hypocalcemia and hyperphosphatemia and possibly resistance to ot …
If inherited from a female, these genetic defects lead to loss-of-methylation at exon A/B alone or at all three differentially …
Novel biallelic loss-of-function variants in ZP1 identified in an infertile female with empty follicle syndrome.
Liu M, Shen Y, Zhang X, Wang X, Li D, Wang Y. Liu M, et al. J Assist Reprod Genet. 2020 Sep;37(9):2151-2157. doi: 10.1007/s10815-020-01855-x. Epub 2020 Jun 16. J Assist Reprod Genet. 2020. PMID: 32556881 Free PMC article.
PURPOSE: Empty follicle syndrome (EFS) refers to the inability to obtain mature oocytes after appropriate ovarian stimulation during the process of in vitro fertilization (IVF). ...Western immunoblotting, immunofluorescence staining, and minigene assay were further …
PURPOSE: Empty follicle syndrome (EFS) refers to the inability to obtain mature oocytes after appropriate ovarian stimulation …
FANCD2 protein is expressed in proliferating cells of human tissues that are cancer-prone in Fanconi anaemia.
Hölzel M, van Diest PJ, Bier P, Wallisch M, Hoatlin ME, Joenje H, de Winter JP. Hölzel M, et al. J Pathol. 2003 Oct;201(2):198-203. doi: 10.1002/path.1450. J Pathol. 2003. PMID: 14517836
Fanconi anaemia (FA) is an inherited form of progressive pancytopenia associated with developmental defects, chromosomal instability, and cancer predisposition. ...This paper reports an immunohistochemical analysis of FANCD2 expression in normal human tissue. The hi …
Fanconi anaemia (FA) is an inherited form of progressive pancytopenia associated with developmental defects, chromosomal insta …
Prepregnancy testing for single-gene disorders by polar body analysis.
Verlinsky Y, Rechitsky S, Verlinsky O, Ivachnenko V, Lifchez A, Kaplan B, Moise J, Valle J, Borkowski A, Nefedova J, Goltsman E, Strom C, Kuliev A. Verlinsky Y, et al. Genet Test. 1999;3(2):185-90. doi: 10.1089/gte.1999.3.185. Genet Test. 1999. PMID: 10464666
A total of 191 of 399 oocytes with predicted genotype were mutation free and preselected for fertilization and transfer. ...The follow-up analysis of embryos resulting from oocytes with predicted affected genotype, confirmed the diagnosis in 97% of cas …
A total of 191 of 399 oocytes with predicted genotype were mutation free and preselected for fertilization and transfer. ...Th …