نتایج جستجو برای: prkar1a protein
تعداد نتایج: 1234776 فیلتر نتایج به سال:
Carney complex is a syndrome characterized by skin pigmentation abnormalities, myxomas, endocrine tumors/overactivity, and schwannomas. It is caused by a mutation in the PRKAR1A gene that encodes the enzyme protein kinase A regulatory subunit type 1 alpha. A 23-year old male was diagnosed with Carney complex on the basis of spotty skin lentigines on his face and lips, multiple thyroid neoplasms...
Acrodysostosis is a dominantly-inherited, multisystem disorder characterized by skeletal, endocrine, and neurological abnormalities. To identify the molecular basis of acrodysostosis, we performed exome sequencing on five genetically independent cases. Three different missense mutations in PDE4D, which encodes cyclic AMP (cAMP)-specific phosphodiesterase 4D, were found to be heterozygous in thr...
A 12.5-year-old girl with diabetes mellitus type 1 presented with stunted growth and an increase in body weight. Also, her blood-sugar levels were difficult to manage. An adrenocorticotropin-(ACTH)-independent form of Cushing's syndrome was diagnosed. During the dexamethasone-suppression test, a paradoxical increase in urinary-free cortisol excretion was observed, which is a clear indication of...
بررسی بیان ژنهای دخیل در سیستم دفاعی گندم نسبت به mycosphaerella graminicola با استفاده از cdna-aflp
aflp یک ابزار قدرتمند برای تشخیص رونوشت هایی با فراوانی کم است و می تواند بعنوان یک روش کارآمد برای جداسازی ژنهایی که بطور متمایز بیان می شوند، بکار رود. بنابراین القا متمایز ژنها در گندم ( رقم چمران و مرودشت) در پاسخ به قارچ m.graminicola بوسیله آنالیز cdna-aflp مورد مطالعه قرار گرفت . در ابتدا گیاهان بوسیله بیمارگر مایه زنی شدند. نمونه برداری در 6 نقطه زمانی(0، 12، 24، 48، 72 و 96 ساعت) بعد ا...
Cushing syndrome is uncommon in childhood and rare in infancy. We report the case of a 3-yr-old child who presented with symptoms of Cushing syndrome beginning shortly after birth. Her hypercortisolemia was cyclical, causing relapsing and remitting symptoms, which eventually led to suspicions of possible Munchausen syndrome by proxy. Investigation at the National Institutes of Health excluded e...
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