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10.1016/j.ajhg.2016.08.018 http://scihub22266oqcxt.onion/10.1016/j.ajhg.2016.08.018 C5097944!5097944 !27745835     free     free     free Deprecated: Implicit conversion from float 231.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 231.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Warning: imagejpeg(C:\Inetpub\vhosts\kidney.de\httpdocs\phplern\27745835 .jpg): Failed to open stream: No such file or directory in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 117       Am+J+Hum+Genet 2016 ; 99 (5 ): 1034-1044 Nephropedia Template TP {{tp|p=27745835 |t=2016. GCM2-Activating Mutations in Familial Isolated Hyperparathyroidism |pdf=|usr=}}{{27745835 }} gab.com Text GCM2-Activating Mutations in Familial Isolated Hyperparathyroidism JO: Am J Hum Genet http://www.kidney.de/pget.php?&tw=1&pmid=27745835 #FOAvip Primary hyperparathyroidism (PHPT) is a common endocrine disease characterized by parathyroid hormone excess and hypercalcemia and caused by hypersecreting parathyroid glands. Familial PHPT occurs in an isolated nonsyndromal form, termed familial isolated hyperparathyroidism (FIHP), or as part of a syndrome, such as multiple endocrine neoplasia type 1 or hyperparathyroidism-jaw tumor syndrome. The specific genetic or other cause(s) of FIHP are unknown. We performed exome sequencing on germline DNA of eight index-case individuals from eight unrelated kindreds with FIHP. Selected rare variants were assessed for co-segregation in affected family members and screened for in an additional 32 kindreds with FIHP. In eight kindreds with FIHP, we identified three rare missense variants in GCM2, a gene encoding a transcription factor required for parathyroid development. Functional characterization of the GCM2 variants and deletion analyses revealed a small C-terminal conserved inhibitory domain (CCID) in GCM2. Two of the three rare variants were recurrent, located in the GCM2 CCID, and found in seven of the 40 (18%) kindreds with FIHP. These two rare variants acted as gain-of-function mutations that increased the transcriptional activity of GCM2, suggesting that GCM2 is a parathyroid proto-oncogene. Our results demonstrate that germline-activating mutations affecting the CCID of GCM2 can cause FIHP. Twit Text FOAVip GCM2-Activating Mutations in Familial Isolated Hyperparathyroidism ????Am J Hum Genet http://www.kidney.de/pget.php?&tw=1&pmid=27745835 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=27745835 #FOAvip English Wikipedia <ref>{{Cite pmid|27745835 }}</ref> GCM2-Activating Mutations in Familial Isolated Hyperparathyroidism #MMPMID27745835 Guan B ; Welch JM ; Sapp JC ; Ling H ; Li Y ; Johnston JJ ; Kebebew E ; Biesecker LG ; Simonds WF ; Marx SJ ; Agarwal SK Am J Hum Genet 2016[Nov]; 99 (5 ): 1034-1044 PMID27745835 show ga Primary hyperparathyroidism (PHPT) is a common endocrine disease characterized by parathyroid hormone excess and hypercalcemia and caused by hypersecreting parathyroid glands. Familial PHPT occurs in an isolated nonsyndromal form, termed familial isolated hyperparathyroidism (FIHP), or as part of a syndrome, such as multiple endocrine neoplasia type 1 or hyperparathyroidism-jaw tumor syndrome. The specific genetic or other cause(s) of FIHP are unknown. We performed exome sequencing on germline DNA of eight index-case individuals from eight unrelated kindreds with FIHP. Selected rare variants were assessed for co-segregation in affected family members and screened for in an additional 32 kindreds with FIHP. In eight kindreds with FIHP, we identified three rare missense variants in GCM2, a gene encoding a transcription factor required for parathyroid development. Functional characterization of the GCM2 variants and deletion analyses revealed a small C-terminal conserved inhibitory domain (CCID) in GCM2. Two of the three rare variants were recurrent, located in the GCM2 CCID, and found in seven of the 40 (18%) kindreds with FIHP. These two rare variants acted as gain-of-function mutations that increased the transcriptional activity of GCM2, suggesting that GCM2 is a parathyroid proto-oncogene. Our results demonstrate that germline-activating mutations affecting the CCID of GCM2 can cause FIHP. |*Germ-Line Mutation [MESH] |Adenoma/diagnosis/*genetics [MESH] |Adolescent [MESH] |Adult [MESH] |Aged [MESH] |Amino Acid Sequence [MESH] |Exome [MESH] |Female [MESH] |Fibroma/diagnosis/*genetics [MESH] |Genetic Variation [MESH] |Humans [MESH] |Hyperparathyroidism, Primary/diagnosis/*genetics [MESH] |Hyperparathyroidism/diagnosis/*genetics [MESH] |Jaw Neoplasms/diagnosis/*genetics [MESH] |Male [MESH] |Middle Aged [MESH] |Multiple Endocrine Neoplasia Type 1/diagnosis/*genetics [MESH] |Nuclear Proteins/*genetics [MESH] |Parathyroid Hormone [MESH] |Pedigree [MESH] |Proto-Oncogene Mas [MESH] |Proto-Oncogenes/genetics [MESH] |Sequence Analysis, DNA [MESH] |Transcription Factors/*genetics [MESH]GCM2-Activating Mutations in Familial Isolated Hyperparathyroidism (epmc).pdf DeepDyve Pubget Overpricing