Results 21 to 30 of about 837,511 (259)

Sequence changes in predicted promoter elements of STK11/LKB1 are unlikely to contribute to Peutz-Jeghers syndrome [PDF]

, 2005
Background: Germline mutations or large-scale deletions in the coding region and splice sites of STK11/LKB1 do not account for all cases of Peutz-Jeghers syndrome (PJS).
Anneke Lucassen, Lim, W., Lucassen Anneke, Norman, A., Taylor, R., Rohan Taylor, Tomlinson, I, Taylor, R, R. Phillips (7481324), Houlston Richard S, Phillips Robin, N.C.M Hearle (7633313), Tomlinson, I., Houlston, R.S., Houlston, RS, Norman, A, Norman Andrew, Murday, Victoria, Robin Phillips, Ian Tomlinson, Edwin Swarbrick, Lim, G., Lim, Guan, Trembath, Richard C., I. Tomlinson (7633316), V. Murday (7633319), O'Donohue, J, Hearle, Nicholas C.M., Morrison, Patrick J., Lim Guan, Murday, V, Lim, G, O'Donohue, John, Morrison, Patrick, Phillips, R., A. Lucassen (7633346), Hearle, N.C.M., Lucassen, A, Lim, W, O'Donohue John, O'Donohue, J., Hodgson, S., Trembath Richard C, Richard C. Trembath (7633334), Morrison, P J, Tomlinson, Ian, Murday, V., Lee, P., Lim Wendy, G. Lim (7633325), S. Hodgson (7633343), Lucassen, Anneke, P. Lee (7633328), Lucassen, A., Swarbrick Edwin, Andrew Norman, Hodgson, S, W. Lim (6499019), Peter Lee, Phillips, R, Hearle, N C M, Trembath, R C, Patrick J Morrison, Tomlinson Ian, Hodgson Shirley, Swarbrick, E., John O'Donohue, Lim, Wendy, Lee Peter, Swarbrick, E, Lee, P, Hearle Nicholas CM, Hodgson, Shirley, Shirley Hodgson, Trembath, RC, Richard S Houlston, Morrison Patrick J, R.S Houlston (7633349), Norman, Andrew, Nicholas CM Hearle, A. Norman (7633340), Taylor, Rohan, R. Taylor (2402647), Wendy Lim, Phillips, Robin, P.J. Morrison (7633337), Victoria Murday, E. Swarbrick (7633322), Richard C Trembath, Guan Lim, Hearle, NC, Morrison, PJ, Lee, Peter, Houlston, Richard S., Murday Victoria, J. O'Donohue (7633331), Taylor Rohan, Trembath, R.C., Swarbrick, Edwin, Houlston, R S   +99 more
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The germline mutational landscape of genitourinary cancers and its indication for prognosis and risk

BMC Urology, 2022
Background Germline mutations represent a high risk of hereditary cancers in population. The landscape and characteristics of germline mutations in genitourinary cancer are largely unknown, and their correlation with patient prognosis has not been ...
Yong Yang, Guoying Zhang, Chen Hu, Wei Luo, Haiyang Jiang, Shaoyou Liu, Hong Yang   +6 more
doaj   +1 more source

Prevalence of pathological germline mutations of hMLH1 and hMSH2 genes in colorectal cancer. [PDF]

PLoS ONE, 2013
The prevalence of pathological germline mutations in colorectal cancer has been widely studied, as germline mutations in the DNA mismatch repair genes hMLH1 and hMSH2 confer a high risk of colorectal cancer.
Dandan Li, Fulan Hu, Fan Wang, Binbin Cui, Xinshu Dong, Wencui Zhang, Chunqing Lin, Xia Li, Da Wang, Yashuang Zhao   +9 more
doaj   +1 more source

Succinate dehydrogenase (SDH)-deficient renal carcinoma:a morphologically distinct entity: a clinicopathologic series of 36 tumors from 27 patients [PDF]

, 2014
Succinate dehydrogenase (SDH)-deficient renal carcinoma has been accepted as a provisional entity in the 2013 International Society of Urological Pathology Vancouver Classification.
Sedivcová, Monika, Yu, Darryl, Papathomas, Thomas, Niemeijer, Nicolasine D., Przybycin, Christopher, Nicoll, Katherine D, Paik, Julie, Miettinen, Markku, Yong, Jim L., Kedziora, Andrew, Andresen, Per Arne, Hes, Ondrej, Toon, Christopher W., Robinson, Bruce G, Corssmit, Eleonora P M, Michal, Michal, Chou, Angela, Hills, Kirsten, Nicoll, Katherine D., Clarkson, Adele, Clifton-bligh, Roderick J., Yong, Jim L, Maclean, Fiona, Yilmaz, Asli, Vlatkovic, Ljiljana, Niemeijer, Nicolasine D, Hartmann, Arndt, Sibony, Mathilde, Agaimy, Abbas, McKenney, Jesse K, Robinson, Bruce G., Van Leenders, Geert J.l.h., Chow, Chung W., Sioson, Loretta, Mckenney, Jesse K., Corssmit, Eleonora P.m., Tan, Puay Hoon, van Leenders, Geert J L H, Yakirevich, Evgeny, Trpkov, Kiril, Benn, Diana E., Gill, Anthony J., Chow, Chung W, Watson, Nicole, Fleming, Stewart, Magi-Galluzzi, Cristina, Clifton-Bligh, Roderick J   +46 more
core   +1 more source

Germline DNA damage repair gene mutations in pancreatic cancer patients with personal/family histories of pancreas/breast/ovarian/prostate cancer in a Japanese population

Annals of Gastroenterological Surgery, 2021
Aim Cancer patients with personal/family histories of pancreatic/breast/ovarian/prostate cancer are associated with a higher likelihood of harboring DNA damage repair (DDR)‐related germline mutations.
Tatsuo Hata, Masamichi Mizuma, Fuyuhiko Motoi, Masaharu Ishida, Hideo Ohtsuka, Kei Nakagawa, Takanori Morikawa, Toru Furukawa, Michiaki Unno   +8 more
doaj   +1 more source

Choroid Plexus Carcinomas With TP53 Germline Mutations: Management and Outcome

Frontiers in Oncology, 2021
BackgroundChoroid plexus carcinomas (CPCs) are rare pediatric tumors commonly associated with Li-Fraumeni syndrome (LFS), which involves a germline mutation of the tumor suppressor gene TP53.Materials and MethodsWe retrospectively analyzed the ...
Yanong Li, Hailong Liu, Tandy Li, Jin Feng, Yanjiao He, Li Chen, Chunde Li, Xiaoguang Qiu   +7 more
doaj   +1 more source

Germline mutations in the oncogene EZH2 cause Weaver syndrome and increased human height [PDF]

, 2011
The biological processes controlling human growth are diverse, complex and poorly understood. Genetic factors are important and human height has been shown to be a highly polygenic trait to which common and rare genetic variation contributes.
Tatton-Brown, Katrina, Hanks, Sandra, Temple, I. Karen, Ruark, Elise, et al., Cole, Trevor, Douglas, Jenny, Loveday, C, Patton, Michael, Ruark, E, Murray, A, Ramsay, Emma, Seal, Sheila, Ramsay, E, Taylor, C, Zachariou, A, Temple, KI, Loveday, Chey, Tatton-Brown, K, Patton, M, Duarte, SDELV, Seal, S, Douglas, J, Raith, W, Clericuzio, Carol, Magee, A, Flinter, F, ?, ?, Splitt, Miranda, Banka, S, Rahman, N, Strenger, V, Flinter, Frances, Rankin, Julia, Snape, Katie, Zachariou, Anna, Temple, Karen I, Murray, Anne, Splitt, M, Wheeler, P, Magee, Alex, Childhood Overgrowth Collaboration, Strenger, Volker, Perdeaux, Elizabeth R, McConnell, Vivienne, Banka, Siddharth, Clericuzio, C, Wheeler, Patricia, McConnell, V, Perdeaux, ER, Cole, T, Taylor, Clare, Snape, K, Raith, Wolfgang, Rahman, Nazneen, Duarte, Silvana Del Vecchio, Hanks, S, Rankin, J   +57 more
core   +1 more source

Transforming growth factor-beta receptor mutations and pulmonary arterial hypertension in childhood [PDF]

, 2005
BACKGROUND: Pulmonary arterial hypertension (PAH) is a potentially fatal vasculopathy that can develop at any age. Adult-onset disease has previously been associated with mutations in BMPR2 and ALK-1.
Haworth, SG, Berger, R; id_orcid, Aldred, M A, Morrell, NW, Harrison, RE, Morrell, Nicholas W., Morrell, N W, Mache, CJ, Haworth, S G, Trembath, R C, Mache, Christoph J., Aldred, MA, Trembath, RC, Berger, Rolf, Aldred, Micheala A., Berger, R, Tulloh, R, Harrison, R E, Harrison, Rachel E., Haworth, Sheila G., Mache, C J, Trembath, Richard C., Tulloh, Robert   +22 more
core   +1 more source

SDHA Germline Mutations in SDH-Deficient GISTs: A Current Update [PDF]

, 2023
Loss of function of the succinate dehydrogenase complex characterizes 20-40% of all KIT/PDGFRA-negative GIST. Approximately half of SDH-deficient GIST patients lack SDHx mutations and are caused by a hypermethylation of the SDHC promoter, which causes ...
Schipani A., Astolfi A., Nannini M., Pantaleo M. A., Schipani, Angela, Astolfi, Annalisa, Nannini, Margherita, Pantaleo, Maria A., Maria A. Pantaleo, Angela Schipani, Annalisa Astolfi, Margherita Nannini   +11 more
core   +2 more sources

Integrating germline and somatic variation information using genomic data for the discovery of biomarkers in prostate cancer

BMC Cancer, 2019
Background Prostate cancer (PCa) is the most common diagnosed malignancy and the second leading cause of cancer-related deaths among men in the United States.
Tarun Karthik Kumar Mamidi, Jiande Wu, Chindo Hicks   +2 more
doaj   +1 more source