Additional file 4: of p.E95K mutation in Indian hedgehog causing brachydactyly type A1 impairs IHH/Gli1 downstream transcriptional regulation

Mutations in IHH, encoding Indian hedgehog, cause brachydactyly type A-1

He, L
Gao, B
Guo, J
She, C
Shu, A
Yang, M
Tan, Z
Yang, X
Guo, S
Feng, G

January 2001

Brachydactyly type A-1 (BDA-1; MIM 112500) is characterized by shortening or missing of the middle p...

Composition and dosage of a multipartite enhancer cluster control developmental expression of Ihh (Indian hedgehog).

Will, Anja J
Cova, Giulia
Osterwalder, Marco
Chan, Wing-Lee
Wittler, Lars
Brieske, Norbert
Heinrich, Verena
de Villartay, Jean-Pierre
Vingron, Martin
Klopocki, Eva
Visel, Axel
Lupiáñez, Darío G
Mundlos, Stefan

October 2017

Copy number variations (CNVs) often include noncoding sequences and putative enhancers, but how thes...

Additional file 1: of Identification of sonic hedgehog-regulated genes and biological processes in the cranial neural crest mesenchyme by comparative transcriptomics

Joshua Everson (5454659)
Dustin Fink (5454668)
Hannah Chung (4600612)
Miranda Sun (5454662)
Robert Lipinski (5454665)

June 2018

Table of all genes with respective expression data for in vitro microarray analysis. (XLS 36513 kb

Additional file 8: of p.E95K mutation in Indian hedgehog causing brachydactyly type A1 impairs IHH/Gli1 downstream transcriptional regulation

Lu Shen (161789)
Gang Ma (52569)
Ye Shi (1487164)
Yunfeng Ruan (6238010)
Xuhan Yang (6238013)
Xi Wu (128938)
Yuyu Xiong (165413)
Chunling Wan (225814)
Chao Yang (174810)
Lei Cai (165530)
Likuan Xiong (6238016)
Xueli Gong (384170)
Lin He (102807)
Shengying Qin (165450)

January 2019

Pathway Analysis of Predicted Gli1 target genes in MT. Top 25 pathway analysis of predicted Gli1 tar...

Additional file 9: of p.E95K mutation in Indian hedgehog causing brachydactyly type A1 impairs IHH/Gli1 downstream transcriptional regulation

Lu Shen (161789)
Gang Ma (52569)
Ye Shi (1487164)
Yunfeng Ruan (6238010)
Xuhan Yang (6238013)
Xi Wu (128938)
Yuyu Xiong (165413)
Chunling Wan (225814)
Chao Yang (174810)
Lei Cai (165530)
Likuan Xiong (6238016)
Xueli Gong (384170)
Lin He (102807)
Shengying Qin (165450)

January 2019

Relative expression of Runx2 with IHH concentration increasing. Relative expression of Runx2 with in...

Deletion of 1 amino acid in Indian hedgehog leads to BrachydactylyA1

Lodder, EM (Elisabeth)
Hoogeboom, Jeannette
Coert, JH
Graaff, Esther

January 2008

Brachydactyly type A1 is a limb malformation characterized by a uniform shortening of the middle pha...

Additional file 3: of Ipriflavone attenuates the degeneration of cartilage by blocking the Indian hedgehog pathway

Li Guo (171454)
Xiaochun Wei (413327)
Zhiwei Zhang (12077)
Xiaojian Wang (381888)
Chunli Wang (615437)
Pengcui Li (6660533)
Chunfang Wang (290482)
Lei Wei (18880)

May 2019

Real-time PCR results showed reduced mRNA expression of key genes in the Ihh pathway, Ptch1, and Hhi...

Indian hedgehog mutations causing brachydactyly type A1 impair Hedgehog signal transduction at multiple levels

Gao, B
Guo, S
Zhang, L
Gao, L
Zhang, W
Kang, Y
Feng, G
He, Y
Hu, J
Xiao, Y
Yu, J
Ma, G
Guo, X
Wang, Y
Zhou, CZ
He, L
Zhou, J
Chan, D
Cheah, KSE

January 2011

Brachydactyly type A1 (BDA1), the first recorded Mendelian autosomal dominant disorder in humans, is...

Additional file 4: of Identification of sonic hedgehog-regulated genes and biological processes in the cranial neural crest mesenchyme by comparative transcriptomics

Joshua Everson (5454659)
Dustin Fink (5454668)
Hannah Chung (4600612)
Miranda Sun (5454662)
Robert Lipinski (5454665)

June 2018

Table of common genes dysregulated in both in vivo and in vitro microarrays with respective expressi...

In vitro and in vivo characterization of mutations in the human Indian hedgehog gene associated with brachydactyly type A1 and acrocapitofemoral dysplasia

Cunningham, Graeme

January 2008

Brachydactyly type A1 (BDA1) is a congenital disorder that affects normal bone development and patte...

Additional file 1: of Ipriflavone attenuates the degeneration of cartilage by blocking the Indian hedgehog pathway

Li Guo (171454)
Xiaochun Wei (413327)
Zhiwei Zhang (12077)
Xiaojian Wang (381888)
Chunli Wang (615437)
Pengcui Li (6660533)
Chunfang Wang (290482)
Lei Wei (18880)

May 2019

Real-time PCR results showed reduced mRNA expression of key genes in the Ihh pathway, Smo, at 48 h a...

Additional file 1: Table S1. of Computational prediction and experimental validation of novel Hedgehog-responsive enhancers linked to genes of the Hedgehog pathway

Katherine Gurdziel (258487)
Kyle Vogt (3498647)
Gary Schneider (3498644)
Neil Richards (371895)
Deborah Gumucio (3498650)

February 2016

GLI binding motif 12-mers. Library of 12-mers enriched in GLIFLAG datasets. Motifs were considered h...

Additional file 2: Table S2. of Computational prediction and experimental validation of novel Hedgehog-responsive enhancers linked to genes of the Hedgehog pathway

Katherine Gurdziel (258487)
Kyle Vogt (3498647)
Gary Schneider (3498644)
Neil Richards (371895)
Deborah Gumucio (3498650)

February 2016

Peak coordinates that overlap between all four GLIFLAG datasets. The 26 regions that have shared pea...

Mild brachydactyly type A1 maps to chromosome 2q35-q36 and is caused by a novel IHH mutation in a three generation family.

GIORDANO N.
GENNARI L.
BRUTTINI M.
MARI F.
MELONI I.
BALDI C.
CAPOCCIA S.
GERACI S.
MERLOTTI D.
AMENDOLA A.
MARTINI G.
NUTI R.
GENNARI C.
RENIERI A.

January 2003

The brachydactylies are a group of inherited disorders in which different subtypes have been defined...

Whole-exome sequencing identifies a novel insertion in an Ontario family with brachydactyly type A1

Rosettia Ho
Adam D McIntyre
Brooke A Kennedy
Robert A Hegele

December 2018

Isolated brachydactyly is an umbrella term describing disproportionally shortened fingers and toes, ...

Mutations in IHH, encoding Indian hedgehog, cause brachydactyly type A-1

He, L
Gao, B
Guo, J
She, C
Shu, A
Yang, M
Tan, Z
Yang, X
Guo, S
Feng, G

January 2001

Brachydactyly type A-1 (BDA-1; MIM 112500) is characterized by shortening or missing of the middle p...

Composition and dosage of a multipartite enhancer cluster control developmental expression of Ihh (Indian hedgehog).

Will, Anja J
Cova, Giulia
Osterwalder, Marco
Chan, Wing-Lee
Wittler, Lars
Brieske, Norbert
Heinrich, Verena
de Villartay, Jean-Pierre
Vingron, Martin
Klopocki, Eva
Visel, Axel
Lupiáñez, Darío G
Mundlos, Stefan

October 2017

Copy number variations (CNVs) often include noncoding sequences and putative enhancers, but how thes...

Additional file 1: of Identification of sonic hedgehog-regulated genes and biological processes in the cranial neural crest mesenchyme by comparative transcriptomics

Joshua Everson (5454659)
Dustin Fink (5454668)
Hannah Chung (4600612)
Miranda Sun (5454662)
Robert Lipinski (5454665)

June 2018

Table of all genes with respective expression data for in vitro microarray analysis. (XLS 36513 kb

Additional file 8: of p.E95K mutation in Indian hedgehog causing brachydactyly type A1 impairs IHH/Gli1 downstream transcriptional regulation

Lu Shen (161789)
Gang Ma (52569)
Ye Shi (1487164)
Yunfeng Ruan (6238010)
Xuhan Yang (6238013)
Xi Wu (128938)
Yuyu Xiong (165413)
Chunling Wan (225814)
Chao Yang (174810)
Lei Cai (165530)
Likuan Xiong (6238016)
Xueli Gong (384170)
Lin He (102807)
Shengying Qin (165450)

January 2019

Pathway Analysis of Predicted Gli1 target genes in MT. Top 25 pathway analysis of predicted Gli1 tar...

Additional file 9: of p.E95K mutation in Indian hedgehog causing brachydactyly type A1 impairs IHH/Gli1 downstream transcriptional regulation

Lu Shen (161789)
Gang Ma (52569)
Ye Shi (1487164)
Yunfeng Ruan (6238010)
Xuhan Yang (6238013)
Xi Wu (128938)
Yuyu Xiong (165413)
Chunling Wan (225814)
Chao Yang (174810)
Lei Cai (165530)
Likuan Xiong (6238016)
Xueli Gong (384170)
Lin He (102807)
Shengying Qin (165450)

January 2019

Relative expression of Runx2 with IHH concentration increasing. Relative expression of Runx2 with in...

Deletion of 1 amino acid in Indian hedgehog leads to BrachydactylyA1

Lodder, EM (Elisabeth)
Hoogeboom, Jeannette
Coert, JH
Graaff, Esther

January 2008

Brachydactyly type A1 is a limb malformation characterized by a uniform shortening of the middle pha...

Additional file 3: of Ipriflavone attenuates the degeneration of cartilage by blocking the Indian hedgehog pathway

Li Guo (171454)
Xiaochun Wei (413327)
Zhiwei Zhang (12077)
Xiaojian Wang (381888)
Chunli Wang (615437)
Pengcui Li (6660533)
Chunfang Wang (290482)
Lei Wei (18880)

May 2019

Real-time PCR results showed reduced mRNA expression of key genes in the Ihh pathway, Ptch1, and Hhi...

Indian hedgehog mutations causing brachydactyly type A1 impair Hedgehog signal transduction at multiple levels

Gao, B
Guo, S
Zhang, L
Gao, L
Zhang, W
Kang, Y
Feng, G
He, Y
Hu, J
Xiao, Y
Yu, J
Ma, G
Guo, X
Wang, Y
Zhou, CZ
He, L
Zhou, J
Chan, D
Cheah, KSE

January 2011

Brachydactyly type A1 (BDA1), the first recorded Mendelian autosomal dominant disorder in humans, is...

Additional file 4: of Identification of sonic hedgehog-regulated genes and biological processes in the cranial neural crest mesenchyme by comparative transcriptomics

Joshua Everson (5454659)
Dustin Fink (5454668)
Hannah Chung (4600612)
Miranda Sun (5454662)
Robert Lipinski (5454665)

June 2018

Table of common genes dysregulated in both in vivo and in vitro microarrays with respective expressi...

In vitro and in vivo characterization of mutations in the human Indian hedgehog gene associated with brachydactyly type A1 and acrocapitofemoral dysplasia

Cunningham, Graeme

January 2008

Brachydactyly type A1 (BDA1) is a congenital disorder that affects normal bone development and patte...

Additional file 1: of Ipriflavone attenuates the degeneration of cartilage by blocking the Indian hedgehog pathway

Li Guo (171454)
Xiaochun Wei (413327)
Zhiwei Zhang (12077)
Xiaojian Wang (381888)
Chunli Wang (615437)
Pengcui Li (6660533)
Chunfang Wang (290482)
Lei Wei (18880)

May 2019

Real-time PCR results showed reduced mRNA expression of key genes in the Ihh pathway, Smo, at 48 h a...

Additional file 1: Table S1. of Computational prediction and experimental validation of novel Hedgehog-responsive enhancers linked to genes of the Hedgehog pathway

Katherine Gurdziel (258487)
Kyle Vogt (3498647)
Gary Schneider (3498644)
Neil Richards (371895)
Deborah Gumucio (3498650)

February 2016

GLI binding motif 12-mers. Library of 12-mers enriched in GLIFLAG datasets. Motifs were considered h...

Additional file 2: Table S2. of Computational prediction and experimental validation of novel Hedgehog-responsive enhancers linked to genes of the Hedgehog pathway

Katherine Gurdziel (258487)
Kyle Vogt (3498647)
Gary Schneider (3498644)
Neil Richards (371895)
Deborah Gumucio (3498650)

February 2016

Peak coordinates that overlap between all four GLIFLAG datasets. The 26 regions that have shared pea...

Mild brachydactyly type A1 maps to chromosome 2q35-q36 and is caused by a novel IHH mutation in a three generation family.

GIORDANO N.
GENNARI L.
BRUTTINI M.
MARI F.
MELONI I.
BALDI C.
CAPOCCIA S.
GERACI S.
MERLOTTI D.
AMENDOLA A.
MARTINI G.
NUTI R.
GENNARI C.
RENIERI A.

January 2003

The brachydactylies are a group of inherited disorders in which different subtypes have been defined...

Whole-exome sequencing identifies a novel insertion in an Ontario family with brachydactyly type A1

Rosettia Ho
Adam D McIntyre
Brooke A Kennedy
Robert A Hegele

December 2018

Isolated brachydactyly is an umbrella term describing disproportionally shortened fingers and toes, ...

Mutations in IHH, encoding Indian hedgehog, cause brachydactyly type A-1

He, L
Gao, B
Guo, J
She, C
Shu, A
Yang, M
Tan, Z
Yang, X
Guo, S
Feng, G

January 2001

Brachydactyly type A-1 (BDA-1; MIM 112500) is characterized by shortening or missing of the middle p...

Composition and dosage of a multipartite enhancer cluster control developmental expression of Ihh (Indian hedgehog).

Will, Anja J
Cova, Giulia
Osterwalder, Marco
Chan, Wing-Lee
Wittler, Lars
Brieske, Norbert
Heinrich, Verena
de Villartay, Jean-Pierre
Vingron, Martin
Klopocki, Eva
Visel, Axel
Lupiáñez, Darío G
Mundlos, Stefan

October 2017

Copy number variations (CNVs) often include noncoding sequences and putative enhancers, but how thes...

Additional file 1: of Identification of sonic hedgehog-regulated genes and biological processes in the cranial neural crest mesenchyme by comparative transcriptomics

Joshua Everson (5454659)
Dustin Fink (5454668)
Hannah Chung (4600612)
Miranda Sun (5454662)
Robert Lipinski (5454665)

June 2018

Table of all genes with respective expression data for in vitro microarray analysis. (XLS 36513 kb

Additional file 4: of p.E95K mutation in Indian hedgehog causing brachydactyly type A1 impairs IHH/Gli1 downstream transcriptional regulation

Abstract

Extracted data

Additional file 4: of p.E95K mutation in Indian hedgehog causing brachydactyly type A1 impairs IHH/Gli1 downstream transcriptional regulation

Abstract

Extracted data

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