Publications:

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A Novel GDF6 Mutation in a Family with Multiple Synostoses Syndrome without Hearing Loss.

Molecular Syndromology

Drage Berentsen, Ragnhild R; Haukanes, Bjørn I BI; Júlíusson, Pétur B PB; Rosendahl, Karen K; Houge, Gunnar G

Publication Date: 2019-01

Variant appearance in text: GDF5: N445T

PubMed Link: 30733656

Variant Present in the following documents:

• Main text

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A Survey of Strategies to Modulate the Bone Morphogenetic Protein Signaling Pathway: Current and Future Perspectives.

Stem Cells International

Lowery, Jonathan W JW; Brookshire, Brice B; Rosen, Vicki V

Publication Date: 2016

Variant appearance in text: GDF5: N445T

PubMed Link: 27433166

Variant Present in the following documents:

• Main text
• SCI2016-7290686.pdf
• 7290686.f1.pdf

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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: N445T

PubMed Link: 27030100

Variant Present in the following documents:

• Main text
• srep23670.pdf

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A New Subtype of Multiple Synostoses Syndrome Is Caused by a Mutation in GDF6 That Decreases Its Sensitivity to Noggin and Enhances Its Potency as a BMP Signal.

Journal Of Bone And Mineral Research : The Official Journal Of The American Society For Bone And Mineral Research

Wang, Jian J; Yu, Tingting T; Wang, Zhigang Z; Ohte, Satoshi S; Yao, Ru-En RE; Zheng, Zhaojing Z; Geng, Juan J; Cai, Haiqing H; Ge, Yihua Y; Li, Yuchan Y; Xu, Yunlan Y; Zhang, Qinghua Q; Gusella, James F JF; Fu, Qihua Q; Pregizer, Steven S; Rosen, Vicki V; Shen, Yiping Y

Publication Date: 2016-04

Variant appearance in text: GDF5: N445T

PubMed Link: 26643732

Variant Present in the following documents:

• Main text

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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: N445T

PubMed Link: 24098149

Variant Present in the following documents:

• Main text

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Mutations in GDF5 reveal a key residue mediating BMP inhibition by NOGGIN.

Plos Genetics

Seemann, Petra P; Brehm, Anja A; König, Jana J; Reissner, Carsten C; Stricker, Sigmar S; Kuss, Pia P; Haupt, Julia J; Renninger, Stephanie S; Nickel, Joachim J; Sebald, Walter W; Groppe, Jay C JC; Plöger, Frank F; Pohl, Jens J; Schmidt-von Kegler, Mareen M; Walther, Maria M; Gassner, Ingmar I; Rusu, Cristina C; Janecke, Andreas R AR; Dathe, Katarina K; Mundlos, Stefan S

Publication Date: 2009-11

Variant appearance in text: GDF5: 1334A>C; N445T

PubMed Link: 19956691

Variant Present in the following documents:

• Main text
• pgen.1000747.pdf

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