Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Morphogenes Knochenprotein BMP7

Das BMP7-Gen kodiert ein Protein in dem TGP-beta-Signalweg und ist bei der Steuerung der Knochenbildung beteiligt. Dass Mutationen zu Nierenfehlbildungen führen können, wird ebenfalls diskutiert.

Diagnostik:

Clinic Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5
Probentyp genomic DNA
Research Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25
Probentyp genomic DNA
Clinic Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25
Probentyp genomic DNA

Krankheiten:

Angeborene Fehlbildungen des Urogenitalsystems
Akro-reno-okuläres Syndrom
SALL4
Autosomal dominantes Robinow-Syndrom 1
WNT5A
BMP7
BNAR-Syndrom
FREM1
Branchio-okulo-faziales Syndrom
TFAP2A
Branchio-oto-renale Dysplasie
Branchio-Oto-Renale Dysplasie 1
EYA1
Branchio-Oto-Renale Dysplasie 2
SIX5
SIX2
Townes-Brocks-Branchio-Oto-Renales Syndrome
SALL1
Branchiootische Syndrom
Branchiootische Syndrom Typ 1
EYA1
Branchiootische Syndrom Typ 3
SIX1
CHARGE-Syndrom
CHD7
TBX18
CHD1L
Denys-Drash-Syndrom
WT1
Fraser-Syndrom
FRAS1
FREM2
GRIP1
Frasier-Syndrom
WT1
Goldberg-Shprintzen-Syndrom
KIF1BP
Hirnmalformation mit Urogenitaldefekten
NFIA
IVIC-Syndrom
SALL4
Ivemark-Syndrom
Renale, hepatische und pankreatische Dysplasie 1
NPHP3
Renale, hepatische und pankreatische Dysplasie 2
NEK8
Kabuki-Syndrom
KDM6A
Kabuki-Syndrom 1
KMT2D
Kabuki-Syndrom 2
KDM6A
Kongenitale Anomalien der Niere und des Harntraktes 1
DSTYK
Kongenitale Anomalien der Niere und des Harntraktes 2
TBX18
Kongenitaler hypogonadotroper Hypogonadismus mit Anosmie 1
ANOS1
Kongenitaler hypogonadotroper Hypogonadismus ohne Anosmie 5
CHD7
Lakrimo-aurikulo-dento-digitales Syndrom
FGF10
Mowat-Wilson-Syndrom
ZEB2
Neigung zu zystischen Nierenfehlbildung
BICC1
Nierenzysten und Diabetes (RCAD)
HNF1B
Papillorenales Syndrom
PAX2
Renal Dysplasie mit Hypopituitarismus und Diabetes
HNF1A
Renal-hepatisch-pankreatische Dysplasie
NPHP3
Renale Hypodysplasie/Aplasie
GREB1L
Renale Hypodysplasie/Aplasie 1
DSTYK
ITGA8
PAX2
RET
UPK3A
Renale Hypodysplasie/Aplasie 2
FGF20
Renotubuläre Dysgenesie
ACE
AGT
AGTR1
REN
SERKAL-Syndrom
WNT4
Simpson-Golabi-Behmel-Syndrom
GPC3
Smith-Lemli-Opitz-Syndrom
DHCR7
Somatisches Nephroblastom
GPC3
WT1
Syndromische Microphthalmie 6
BMP4
Tränen- und Speicheldrüsenaplasie
FGF10
Urofaziales Syndrom
HPSE2
Vesicoureteraler Reflux
Familiärer vesicoureteraler Reflux 2
ROBO2
Familiärer vesicoureteraler Reflux 3
SOX17
Familiärer vesicoureteraler Reflux 8
TNXB
WAGR-Syndrom
PAX6
WT1

Referenzen:

1.

Cheng H et. al. (2003) Osteogenic activity of the fourteen types of human bone morphogenetic proteins (BMPs).

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2.

Fuller ML et. al. (2007) Bone morphogenetic proteins promote gliosis in demyelinating spinal cord lesions.

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3.

Hahn GV et. al. (1992) A bone morphogenetic protein subfamily: chromosomal localization of human genes for BMP5, BMP6, and BMP7.

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4.

Celeste AJ et. al. (1990) Identification of transforming growth factor beta family members present in bone-inductive protein purified from bovine bone.

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5.

Ozkaynak E et. al. (1990) OP-1 cDNA encodes an osteogenic protein in the TGF-beta family.

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6.

Marker PC et. al. (1995) Chromosomal localization, embryonic expression, and imprinting tests for Bmp7 on distal mouse chromosome 2.

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7.

Dudley AT et. al. (1995) A requirement for bone morphogenetic protein-7 during development of the mammalian kidney and eye.

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8.

Solursh M et. al. (1996) Osteogenic protein-1 is required for mammalian eye development.

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9.

Jena N et. al. (1997) BMP7 null mutation in mice: developmental defects in skeleton, kidney, and eye.

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10.

Augsburger A et. al. (1999) BMPs as mediators of roof plate repulsion of commissural neurons.

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11.

Beck HN et. al. (2001) Bone morphogenetic protein-5 (BMP-5) promotes dendritic growth in cultured sympathetic neurons.

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12.

You L et. al. (2002) Differential effect of activin A and BMP-7 on myofibroblast differentiation and the role of the Smad signaling pathway.

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13.

Groppe J et. al. (2002) Structural basis of BMP signalling inhibition by the cystine knot protein Noggin.

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14.

Butler SJ et. al. (2003) A role for BMP heterodimers in roof plate-mediated repulsion of commissural axons.

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15.

Wang S et. al. (2004) Bone morphogenetic protein-7 signals opposing transforming growth factor beta in mesangial cells.

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16.

Zeisberg EM et. al. (2007) Endothelial-to-mesenchymal transition contributes to cardiac fibrosis.

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17.

Suzuki K et. al. (2008) Abnormal urethra formation in mouse models of split-hand/split-foot malformation type 1 and type 4.

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18.

Adams D et. al. (2007) Control of kidney, eye and limb expression of Bmp7 by an enhancer element highly conserved between species.

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19.

Tseng YH et. al. (2008) New role of bone morphogenetic protein 7 in brown adipogenesis and energy expenditure.

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20.

Kazama I et. al. (2008) Podocyte-derived BMP7 is critical for nephron development.

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21.

Long J et. al. (2013) MicroRNA-22 is a master regulator of bone morphogenetic protein-7/6 homeostasis in the kidney.

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