Publications:

Mutant GDF5 enhances ameloblast differentiation via accelerated BMP2-induced Smad1/5/8 phosphorylation.

Scientific Reports

Liu, Jia J; Saito, Kan K; Maruya, Yuriko Y; Nakamura, Takashi T; Yamada, Aya A; Fukumoto, Emiko E; Ishikawa, Momoko M; Iwamoto, Tsutomu T; Miyazaki, Kanako K; Yoshizaki, Keigo K; Ge, Lihong L; Fukumoto, Satoshi S

Publication Date: 2016-03-31

Variant appearance in text: GDF5: W414R

PubMed Link: 27030100

Variant Present in the following documents:

• Main text
• srep23670.pdf

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Two novel disease-causing variants in BMPR1B are associated with brachydactyly type A1.

European Journal Of Human Genetics : Ejhg

Racacho, Lemuel L; Byrnes, Ashley M AM; MacDonald, Heather H; Dranse, Helen J HJ; Nikkel, Sarah M SM; Allanson, Judith J; Rosser, Elisabeth E; Underhill, T Michael TM; Bulman, Dennis E DE

Publication Date: 2015-12

Variant appearance in text: GDF5: Trp414Arg

PubMed Link: 25758993

Variant Present in the following documents:

• Main text
• ejhg201538a.pdf

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A GDF5 point mutation strikes twice--causing BDA1 and SYNS2.

Plos Genetics

Degenkolbe, Elisa E; König, Jana J; Zimmer, Julia J; Walther, Maria M; Reißner, Carsten C; Nickel, Joachim J; Plöger, Frank F; Raspopovic, Jelena J; Sharpe, James J; Dathe, Katarina K; Hecht, Jacqueline T JT; Mundlos, Stefan S; Doelken, Sandra C SC; Seemann, Petra P

Publication Date: 2013

Variant appearance in text: GDF5: W414R

PubMed Link: 24098149

Variant Present in the following documents:

• Main text
• pgen.1003846.pdf

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