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Mutations in WNT1 cause different forms of bone fragility
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scholarly article
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title
Mutations in WNT1 cause different forms of bone fragility
(English)
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main subject
Wnt family member 1
1 reference
stated in
GOA release 2020-03-11
bone development
1 reference
stated in
GOA release 2020-03-11
author
Stefan Mundlos
series ordinal
32
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Bernd Wollnik
series ordinal
36
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Gökhan Yigit
series ordinal
8
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Hulya Kayserili
series ordinal
3
object named as
Hülya Kayserili
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José A Caparrós-Martín
object named as
José A Caparrós-Martín
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20
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Oliver Semler
object named as
Oliver Semler
series ordinal
6
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Victor L Ruiz-Perez
object named as
Victor L Ruiz-Perez
series ordinal
31
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Sergey Leikin
object named as
Sergey Leikin
series ordinal
27
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Peter Krawitz
object named as
Peter Krawitz
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14
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Mona S Aglan
object named as
Mona Aglan
series ordinal
23
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Samia A Temtamy
object named as
Samia Temtamy
series ordinal
22
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Björn Fischer-Zirnsak
1 reference
stated in
ORCID Public Data File 2021
Claudia Y Janda
object named as
Claudia Y Janda
series ordinal
9
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Umut Altunoglu
object named as
Umut Altunoglu
series ordinal
12
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Elena Makareeva
object named as
Elena Makareeva
series ordinal
17
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Pablo Lapunzina
object named as
Pablo Lapunzina
series ordinal
21
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Filippo Beleggia
object named as
Filippo Beleggia
series ordinal
2
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author name string
Katharina Keupp
series ordinal
1
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Aileen M Barnes
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4
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Magdalena Steiner
series ordinal
5
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Björn Fischer
series ordinal
7
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Jutta Becker
series ordinal
10
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Stefan Breer
series ordinal
11
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Johannes Grünhagen
series ordinal
13
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Jochen Hecht
series ordinal
15
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Thorsten Schinke
series ordinal
16
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Ekkehart Lausch
series ordinal
18
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Tufan Cankaya
series ordinal
19
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Bernhard Zabel
series ordinal
24
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Peer Eysel
series ordinal
25
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Friederike Koerber
series ordinal
26
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K Christopher Garcia
series ordinal
28
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Christian Netzer
series ordinal
29
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Eckhard Schönau
series ordinal
30
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Michael Amling
series ordinal
33
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Uwe Kornak
series ordinal
34
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Joan Marini
series ordinal
35
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language of work or name
English
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publication date
4 April 2013
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published in
American Journal of Human Genetics
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volume
92
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issue
4
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page(s)
565-74
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cites work
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Homozygosity for a missense mutation in SERPINH1, which encodes the collagen chaperone protein HSP47, results in severe recessive osteogenesis imperfecta
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CRTAP is required for prolyl 3- hydroxylation and mutations cause recessive osteogenesis imperfecta
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Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture
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Mutations in PLOD2 cause autosomal-recessive connective tissue disorders within the Bruck syndrome--osteogenesis imperfecta phenotypic spectrum.
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A histone lysine methyltransferase activated by non-canonical Wnt signalling suppresses PPAR-gamma transactivation
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Genetics of osteoporosis
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12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Identifiers
DOI
10.1016/J.AJHG.2013.02.010
1 reference
stated in
Consolidated OpenCitations Corpus – April 2017
OpenCitations bibliographic resource ID
4369233
OpenCitations bibliographic resource ID
4369233
1 reference
stated in
Consolidated OpenCitations Corpus – April 2017
OpenCitations bibliographic resource ID
4369233
PMC publication ID
3617378
1 reference
stated in
Consolidated OpenCitations Corpus – April 2017
OpenCitations bibliographic resource ID
4369233
PubMed publication ID
23499309
1 reference
stated in
Consolidated OpenCitations Corpus – April 2017
OpenCitations bibliographic resource ID
4369233
ResearchGate publication ID
236053706
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