PDE8B c.339+11353G>A

Variant ID: 5-76518442-G-A

NM_003719.3(PDE8B):c.339+11353G>A

This variant was identified in 20 publications

View GRCh38 version.




Publications:


Once upon a Testis: The Tale of Cyclic Nucleotide Phosphodiesterase in Testicular Cancers.

International Journal Of Molecular Sciences
Campolo, Federica F; Assenza, Maria Rita MR; Venneri, Mary Anna MA; Barbagallo, Federica F
Publication Date: 2023-04-20

Variant appearance in text: rs4704397
PubMed Link: 37108780
Variant Present in the following documents:
  • ijms-24-07617.pdf
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Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.

Ejhaem
Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS
Publication Date: 2022-11

Variant appearance in text: rs4704397
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
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Genetic Susceptibility to Joint Occurrence of Polycystic Ovary Syndrome and Hashimoto's Thyroiditis: How Far Is Our Understanding?

Frontiers In Immunology
Zeber-Lubecka, Natalia N; Hennig, Ewa E EE
Publication Date: 2021

Variant appearance in text: rs4704397
PubMed Link: 33746952
Variant Present in the following documents:
  • Main text
  • fimmu-12-606620.pdf
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Phosphodiesterase 8B Polymorphism rs4704397 Is Associated with Infertility in Subclinical Hypothyroid Females: A Case-Control Study.

International Journal Of Fertility & Sterility
Mansuri, Tabassum T; Jadeja, S Hahnawaz D SHD; Singh, Mala M; Begum, Rasheedunnisa R; Robin, Pushpa P
Publication Date: 2020-07

Variant appearance in text: rs4704397
PubMed Link: 32681624
Variant Present in the following documents:
  • Main text
  • Int-J-Fertil-Steril-14-122.pdf
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Association of three SNPs in the PARP-1 gene with Hashimoto's thyroiditis.

Human Genome Variation
Koc, Arzuhan A; Aydin Sayitoglu, Muge M; Karakurt, Funda F; Batar, Bahadir B; Niyazoglu, Mutlu M; Celik, Ozlem O; Onaran, Ilhan I; Tasan, Ertugrul E; Sultuybek, Gonul Kanigur GK
Publication Date: 2014

Variant appearance in text: rs4704397
PubMed Link: 27081507
Variant Present in the following documents:
  • Main text
  • hgv201416.pdf
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Whole-genome sequence-based analysis of thyroid function.

Nature Communications
Taylor, Peter N PN; Porcu, Eleonora E; Chew, Shelby S; Campbell, Purdey J PJ; Traglia, Michela M; Brown, Suzanne J SJ; Mullin, Benjamin H BH; Shihab, Hashem A HA; Min, Josine J; Walter, Klaudia K; Memari, Yasin Y; Huang, Jie J; Barnes, Michael R MR; Beilby, John P JP; Charoen, Pimphen P; Danecek, Petr P; Dudbridge, Frank F; Forgetta, Vincenzo V; Greenwood, Celia C; Grundberg, Elin E; Johnson, Andrew D AD; Hui, Jennie J; Lim, Ee M EM; McCarthy, Shane S; Muddyman, Dawn D; Panicker, Vijay V; Perry, John R B JR; Bell, Jordana T JT; Yuan, Wei W; Relton, Caroline C; Gaunt, Tom T; Schlessinger, David D; Abecasis, Goncalo G; Cucca, Francesco F; Surdulescu, Gabriela L GL; Woltersdorf, Wolfram W; Zeggini, Eleftheria E; Zheng, Hou-Feng HF; Toniolo, Daniela D; Dayan, Colin M CM; Naitza, Silvia S; Walsh, John P JP; Spector, Tim T; Davey Smith, George G; Durbin, Richard R; Richards, J Brent JB; Sanna, Serena S; Soranzo, Nicole N; Timpson, Nicholas J NJ; Wilson, Scott G SG; ,
Publication Date: 2015-03-06

Variant appearance in text: rs4704397
PubMed Link: 25743335
Variant Present in the following documents:
  • Main text
  • ncomms6681.pdf
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Genetic variants associated with serum thyroid stimulating hormone (TSH) levels in European Americans and African Americans from the eMERGE Network.

Plos One
Malinowski, Jennifer R JR; Denny, Joshua C JC; Bielinski, Suzette J SJ; Basford, Melissa A MA; Bradford, Yuki Y; Peissig, Peggy L PL; Carrell, David D; Crosslin, David R DR; Pathak, Jyotishman J; Rasmussen, Luke L; Pacheco, Jennifer J; Kho, Abel A; Newton, Katherine M KM; Li, Rongling R; Kullo, Iftikhar J IJ; Chute, Christopher G CG; Chisholm, Rex L RL; Jarvik, Gail P GP; Larson, Eric B EB; McCarty, Catherine A CA; Masys, Daniel R DR; Roden, Dan M DM; de Andrade, Mariza M; Ritchie, Marylyn D MD; Crawford, Dana C DC
Publication Date: 2014

Variant appearance in text: rs4704397
PubMed Link: 25436638
Variant Present in the following documents:
  • Main text
  • pone.0111301.pdf
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2012 ETA Guidelines: The Use of L-T4 + L-T3 in the Treatment of Hypothyroidism.

European Thyroid Journal
Wiersinga, Wilmar M WM; Duntas, Leonidas L; Fadeyev, Valentin V; Nygaard, Birte B; Vanderpump, Mark P J MP
Publication Date: 2012-07

Variant appearance in text: rs4704397
PubMed Link: 24782999
Variant Present in the following documents:
  • Main text
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A meta-analysis of thyroid-related traits reveals novel loci and gender-specific differences in the regulation of thyroid function.

Plos Genetics
Porcu, Eleonora E; Medici, Marco M; Pistis, Giorgio G; Volpato, Claudia B CB; Wilson, Scott G SG; Cappola, Anne R AR; Bos, Steffan D SD; Deelen, Joris J; den Heijer, Martin M; Freathy, Rachel M RM; Lahti, Jari J; Liu, Chunyu C; Lopez, Lorna M LM; Nolte, Ilja M IM; O'Connell, Jeffrey R JR; Tanaka, Toshiko T; Trompet, Stella S; Arnold, Alice A; Bandinelli, Stefania S; Beekman, Marian M; Böhringer, Stefan S; Brown, Suzanne J SJ; Buckley, Brendan M BM; Camaschella, Clara C; de Craen, Anton J M AJ; Davies, Gail G; de Visser, Marieke C H MC; Ford, Ian I; Forsen, Tom T; Frayling, Timothy M TM; Fugazzola, Laura L; Gögele, Martin M; Hattersley, Andrew T AT; Hermus, Ad R AR; Hofman, Albert A; Houwing-Duistermaat, Jeanine J JJ; Jensen, Richard A RA; Kajantie, Eero E; Kloppenburg, Margreet M; Lim, Ee M EM; Masciullo, Corrado C; Mariotti, Stefano S; Minelli, Cosetta C; Mitchell, Braxton D BD; Nagaraja, Ramaiah R; Netea-Maier, Romana T RT; Palotie, Aarno A; Persani, Luca L; Piras, Maria G MG; Psaty, Bruce M BM; Räikkönen, Katri K; Richards, J Brent JB; Rivadeneira, Fernando F; Sala, Cinzia C; Sabra, Mona M MM; Sattar, Naveed N; Shields, Beverley M BM; Soranzo, Nicole N; Starr, John M JM; Stott, David J DJ; Sweep, Fred C G J FC; Usala, Gianluca G; van der Klauw, Melanie M MM; van Heemst, Diana D; van Mullem, Alies A; Vermeulen, Sita H SH; Visser, W Edward WE; Walsh, John P JP; Westendorp, Rudi G J RG; Widen, Elisabeth E; Zhai, Guangju G; Cucca, Francesco F; Deary, Ian J IJ; Eriksson, Johan G JG; Ferrucci, Luigi L; Fox, Caroline S CS; Jukema, J Wouter JW; Kiemeney, Lambertus A LA; Pramstaller, Peter P PP; Schlessinger, David D; Shuldiner, Alan R AR; Slagboom, Eline P EP; Uitterlinden, André G AG; Vaidya, Bijay B; Visser, Theo J TJ; Wolffenbuttel, Bruce H R BH; Meulenbelt, Ingrid I; Rotter, Jerome I JI; Spector, Tim D TD; Hicks, Andrew A AA; Toniolo, Daniela D; Sanna, Serena S; Peeters, Robin P RP; Naitza, Silvia S
Publication Date: 2013

Variant appearance in text: rs4704397
PubMed Link: 23408906
Variant Present in the following documents:
  • Main text
  • pgen.1003266.pdf
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Genetic associations with neonatal thyroid-stimulating hormone levels.

Pediatric Research
Alul, Farah Y FY; Shchelochkov, Oleg A OA; Berberich, Stanton L SL; Murray, Jeffrey C JC; Ryckman, Kelli K KK
Publication Date: 2013-04

Variant appearance in text: rs4704397
PubMed Link: 23344678
Variant Present in the following documents:
  • Main text
View BVdb publication page



Phosphodiesterase 8B gene polymorphism in women with recurrent miscarriage: a retrospective case control study.

Bmc Medical Genetics
Granfors, Michaela M; Karypidis, Helena H; Hosseini, Frida F; Skjöldebrand-Sparre, Lottie L; Stavreus-Evers, Anneli A; Bremme, Katarina K; Landgren, Britth-Marie BM; Sundström-Poromaa, Inger I; Wikström, Anna-Karin AK; Åkerud, Helena H
Publication Date: 2012-12-13

Variant appearance in text: rs4704397
PubMed Link: 23237535
Variant Present in the following documents:
  • Main text
View BVdb publication page



Paracrine interactions of thyroid hormones and thyroid stimulation hormone in the female reproductive tract have an impact on female fertility.

Frontiers In Endocrinology
Stavreus Evers, Anneli A
Publication Date: 2012

Variant appearance in text: rs4704397
PubMed Link: 22649421
Variant Present in the following documents:
  • Main text
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Novel associations for hypothyroidism include known autoimmune risk loci.

Plos One
Eriksson, Nicholas N; Tung, Joyce Y JY; Kiefer, Amy K AK; Hinds, David A DA; Francke, Uta U; Mountain, Joanna L JL; Do, Chuong B CB
Publication Date: 2012

Variant appearance in text: rs4704397
PubMed Link: 22493691
Variant Present in the following documents:
  • Main text
  • pone.0034442.pdf
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Genetics of thyroid function and disease.

The Clinical Biochemist. Reviews
Panicker, Vijay V
Publication Date: 2011-11

Variant appearance in text: rs4704397
PubMed Link: 22147956
Variant Present in the following documents:
  • Main text
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A meta-analysis of the associations between common variation in the PDE8B gene and thyroid hormone parameters, including assessment of longitudinal stability of associations over time and effect of thyroid hormone replacement.

European Journal Of Endocrinology
Taylor, Peter N PN; Panicker, Vijay V; Sayers, Adrian A; Shields, Beverley B; Iqbal, Ahmed A; Bremner, Alexandra P AP; Beilby, John P JP; Leedman, Peter J PJ; Hattersley, Andrew T AT; Vaidya, Bijay B; Frayling, Timothy T; Evans, Jonathan J; Tobias, Jonathan H JH; Timpson, Nicholas J NJ; Walsh, John P JP; Dayan, Colin M CM
Publication Date: 2011-05

Variant appearance in text: rs4704397
PubMed Link: 21317282
Variant Present in the following documents:
  • Main text
View BVdb publication page



A locus on chromosome 1p36 is associated with thyrotropin and thyroid function as identified by genome-wide association study.

American Journal Of Human Genetics
Panicker, Vijay V; Wilson, Scott G SG; Walsh, John P JP; Richards, J Brent JB; Brown, Suzanne J SJ; Beilby, John P JP; Bremner, Alexandra P AP; Surdulescu, Gabriela L GL; Qweitin, Emad E; Gillham-Nasenya, Irina I; Soranzo, Nicole N; Lim, Ee M EM; Fletcher, Stephen J SJ; Spector, Tim D TD
Publication Date: 2010-09-10

Variant appearance in text: rs4704397
PubMed Link: 20826269
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic Predisposition to Familial Nonmedullary Thyroid Cancer: An Update of Molecular Findings and State-of-the-Art Studies.

Journal Of Oncology
Bonora, Elena E; Tallini, Giovanni G; Romeo, Giovanni G
Publication Date: 2010

Variant appearance in text: rs4704397
PubMed Link: 20628519
Variant Present in the following documents:
  • Main text
  • JO2010-385206.pdf
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Haplotype analysis of the promoter region of phosphodiesterase type 8B (PDE8B) in correlation with inactivating PDE8B mutation and the serum thyroid-stimulating hormone levels.

Thyroid : Official Journal Of The American Thyroid Association
Horvath, Anelia A; Faucz, Fabio F; Finkielstain, Gabriela P GP; Nikita, Maria Eleni ME; Rothenbuhler, Anya A; Almeida, Madson M; Mericq, Veronica V; Stratakis, Constantine A CA
Publication Date: 2010-04

Variant appearance in text: rs4704397
PubMed Link: 20373981
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genome-wide association studies in an isolated founder population from the Pacific Island of Kosrae.

Plos Genetics
Lowe, Jennifer K JK; Maller, Julian B JB; Pe'er, Itsik I; Neale, Benjamin M BM; Salit, Jacqueline J; Kenny, Eimear E EE; Shea, Jessica L JL; Burkhardt, Ralph R; Smith, J Gustav JG; Ji, Weizhen W; Noel, Martha M; Foo, Jia Nee JN; Blundell, Maude L ML; Skilling, Vita V; Garcia, Laura L; Sullivan, Marcia L ML; Lee, Heather E HE; Labek, Anna A; Ferdowsian, Hope H; Auerbach, Steven B SB; Lifton, Richard P RP; Newton-Cheh, Christopher C; Breslow, Jan L JL; Stoffel, Markus M; Daly, Mark J MJ; Altshuler, David M DM; Friedman, Jeffrey M JM
Publication Date: 2009-02

Variant appearance in text: rs4704397
PubMed Link: 19197348
Variant Present in the following documents:
  • Main text
  • pgen.1000365.pdf
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Phosphodiesterase 8B gene variants are associated with serum TSH levels and thyroid function.

American Journal Of Human Genetics
Arnaud-Lopez, Lisette L; Usala, Gianluca G; Ceresini, Graziano G; Mitchell, Braxton D BD; Pilia, Maria Grazia MG; Piras, Maria Grazia MG; Sestu, Natascia N; Maschio, Andrea A; Busonero, Fabio F; Albai, Giuseppe G; Dei, Mariano M; Lai, Sandra S; Mulas, Antonella A; Crisponi, Laura L; Tanaka, Toshiko T; Bandinelli, Stefania S; Guralnik, Jack M JM; Loi, Angela A; Balaci, Lenuta L; Sole, Gabriella G; Prinzis, Alessia A; Mariotti, Stefano S; Shuldiner, Alan R AR; Cao, Antonio A; Schlessinger, David D; Uda, Manuela M; Abecasis, Gonçalo R GR; Nagaraja, Ramaiah R; Sanna, Serena S; Naitza, Silvia S
Publication Date: 2008-06

Variant appearance in text: rs4704397
PubMed Link: 18514160
Variant Present in the following documents:
  • Main text
View BVdb publication page