Publications:

TTC5 syndrome: Clinical and molecular spectrum of a severe and recognizable condition.

American Journal Of Medical Genetics. Part A

Musante, Luciana L; Faletra, Flavio F; Meier, Kolja K; Tomoum, Hoda H; Najarzadeh Torbati, Paria P; Blair, Edward E; North, Sally S; Gärtner, Jutta J; Diegmann, Susann S; Beiraghi Toosi, Mehran M; Ashrafzadeh, Farah F; Ghayoor Karimiani, Ehsan E; Murphy, David D; Murru, Flora Maria FM; Zanus, Caterina C; Magnolato, Andrea A; La Bianca, Martina M; Feresin, Agnese A; Girotto, Giorgia G; Gasparini, Paolo P; Costa, Paola P; Carrozzi, Marco M

Publication Date: 2022-09

Variant appearance in text: CREBBP: 6241C>T; Gln2081*

PubMed Link: 35670379

Variant Present in the following documents:

• AJMG-188-2652-s001.xlsx, sheet 3

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Menke-Hennekam Syndrome: A Literature Review and a New Case Report.

Children (Basel, Switzerland)

Sima, Aurora A; Smădeanu, Roxana Elena RE; Simionescu, Anca Angela AA; Nedelea, Florina F; Vlad, Andreea-Maria AM; Becheanu, Cristina C

Publication Date: 2022-05-22

Variant appearance in text: CREBBP: 6241C>T; Gln2081Ter

PubMed Link: 35626936

Variant Present in the following documents:

• children-09-00759.pdf

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Comprehensive omic characterization of breast cancer in Mexican-Hispanic women.

Nature Communications

Romero-Cordoba, Sandra L SL; Salido-Guadarrama, Ivan I; Rebollar-Vega, Rosa R; Bautista-Piña, Veronica V; Dominguez-Reyes, Carlos C; Tenorio-Torres, Alberto A; Villegas-Carlos, Felipe F; Fernández-López, Juan C JC; Uribe-Figueroa, Laura L; Alfaro-Ruiz, Luis L; Hidalgo-Miranda, Alfredo A

Publication Date: 2021-04-14

Variant appearance in text: CREBBP: Q2081*

PubMed Link: 33854067

Variant Present in the following documents:

• 41467_2021_22478_MOESM8_ESM.xlsx, sheet 7

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mTOR Signaling and SREBP Activity Increase FADS2 Expression and Can Activate Sapienate Biosynthesis.

Cell Reports

Triki, Mouna M; Rinaldi, Gianmarco G; Planque, Melanie M; Broekaert, Dorien D; Winkelkotte, Alina M AM; Maier, Carina R CR; Janaki Raman, Sudha S; Vandekeere, Anke A; Van Elsen, Joke J; Orth, Martin F MF; Grünewald, Thomas G P TGP; Schulze, Almut A; Fendt, Sarah-Maria SM

Publication Date: 2020-06-23

Variant appearance in text: CREBBP: Q2081*

PubMed Link: 32579932

Variant Present in the following documents:

• mmc5.xlsx, sheet 3

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Diversity spectrum analysis identifies mutation-specific effects of cancer driver genes.

Communications Biology

Dong, Xiaobao X; Huang, Dandan D; Yi, Xianfu X; Zhang, Shijie S; Wang, Zhao Z; Yan, Bin B; Chung Sham, Pak P; Chen, Kexin K; Jun Li, Mulin M

Publication Date: 2020-01-07

Variant appearance in text: CREBBP: 6241C>T; Q2081*

PubMed Link: 31925297

Variant Present in the following documents:

• 42003_2019_736_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page