Human oocyte maturation arrest caused by a novel missense mutation in TUBB8
نویسندگان
چکیده
منابع مشابه
Rabson Mendenhall Syndrome caused by a novel missense mutation
BACKGROUND Rabson Mendenhall syndrome is a rare endocrine condition characterized by severe insulin resistance and hyperglycemia. It occurs due to mutations in the insulin receptor gene. Few mutations which are associated with Rabson Mendenhall syndrome have been identified and reported in the past. The management of this condition is extremely challenging and will need multi-disciplinary appro...
متن کاملOOCYTE MATURATION DEFECT Oocyte Maturation Failure, Oocyte Defect Syndrome, Bad Eggs Syndrome, Meiotic Arrest, Oocyte Arrest, Maturation Arrest Of Human Oocytes
Oocyte maturation arrest is a complex problem not clearly understood; only few cases showing a complete oocyte maturation failure has been reported previously, still the exact incidence remains unknown. Failure to resume meiosis (a specialized type of cell division that reduces the chromosome number by half) in vivo may arise at one of the following three levels: absent or incomplete luteinizin...
متن کاملOOCYTE MATURATION DEFECT Oocyte Maturation Failure, Oocyte Defect Syndrome, Bad Eggs Syndrome, Meiotic Arrest, Oocyte Arrest, Maturation Arrest Of Human Oocytes
Oocyte maturation arrest is a complex problem not clearly understood; only few cases showing a complete oocyte maturation failure has been reported previously, still the exact incidence remains unknown. Failure to resume meiosis (a specialized type of cell division that reduces the chromosome number by half) in vivo may arise at one of the following three levels: absent or incomplete luteinizin...
متن کاملFailure of oocyte maturation: possible mechanisms for oocyte maturation arrest.
For human IVF, the patient's ovaries are hormonally stimulated to ensure the collection of fully matured oocytes that are at the metaphase II stage. Only these oocytes can be successfully fertilized either when mixed with sperm or after ICSI. Nevertheless, in some cases immature or maturing oocytes are recovered from follicles. Surprisingly, sometimes these oocytes do not complete maturation wh...
متن کاملA Novel Missense Mutation in CLCN1 Gene in a Family with Autosomal Recessive Congenital Myotonia
Congenital recessive myotonia is a rare genetic disorder caused by mutations in CLCN1, which codes for the main skeletal muscle chloride channel ClC-1. More than 120 mutations have been found in this gene. The main feature of this disorder is muscle membrane hyperexcitability. Here, we report a 59-year male patient suffering from congenital myotonia. He had transient generalized myotonia, which...
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ژورنال
عنوان ژورنال: Journal of International Medical Research
سال: 2018
ISSN: 0300-0605,1473-2300
DOI: 10.1177/0300060518778638