Mesomelia-synostoses syndrome results from deletion of SULF1 and SLCO5A1 genes at 8q13.

scientific article

Mesomelia-synostoses syndrome results from deletion of SULF1 and SLCO5A1 genes at 8q13. is …
instance of (P31):
scholarly articleQ13442814

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P356DOI10.1016/J.AJHG.2010.05.012
P932PMC publication ID2896765
P698PubMed publication ID20602915
P5875ResearchGate publication ID45093955

P50authorAnita RauchQ21253643
Geert MortierQ28354336
Richard RedonQ34445681
Cédric Le CaignecQ47261785
Maria Bitner-GlindziczQ56725380
Alain VerloesQ64955175
P2093author name stringAlbert David
Cornelia Kraus
Dominique Heymann
Bertrand Isidor
Olivier Pichon
Antoine Hamel
Debra Day-Salvatore
Jules G Leroy
Karolina A Siwicka
Lena Kjellén
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Mutations in a new member of the chromodomain gene family cause CHARGE syndromeQ24300737
QSulf1 remodels the 6-O sulfation states of cell surface heparan sulfate proteoglycans to promote Wnt signalingQ24675509
Haploinsufficiency of TCF4 causes syndromal mental retardation with intermittent hyperventilation (Pitt-Hopkins syndrome)Q24682812
Analysis of Relative Gene Expression Data Using Real-Time Quantitative PCR and the 2−ΔΔCT MethodQ25938999
The mechanism of human nonhomologous DNA end joiningQ28257187
A DNA replication mechanism for generating nonrecurrent rearrangements associated with genomic disordersQ28262802
Redundant function of the heparan sulfate 6-O-endosulfatases Sulf1 and Sulf2 during skeletal developmentQ28512642
Genome architecture, rearrangements and genomic disordersQ29614721
MEF2C haploinsufficiency caused by either microdeletion of the 5q14.3 region or mutation is responsible for severe mental retardation with stereotypic movements, epilepsy and/or cerebral malformationsQ33766816
Domain-specific modification of heparan sulfate by Qsulf1 modulates the binding of the bone morphogenetic protein antagonist NogginQ34279840
Receptor activator of nuclear factor kappaB ligand (RANKL)/osteoprotegerin (OPG) ratio is increased in severe osteolysisQ35843398
QSulf1, a heparan sulfate 6-O-endosulfatase, inhibits fibroblast growth factor signaling in mesoderm induction and angiogenesisQ37415156
The tumor suppressor function of human sulfatase 1 (SULF1) in carcinogenesis.Q37448200
Interleukin-6 inhibits receptor activator of nuclear factor kappaB ligand-induced osteoclastogenesis by diverting cells into the macrophage lineage: key role of Serine727 phosphorylation of signal transducer and activator of transcription 3.Q39993181
Downregulation of osteoblast markers and induction of the glial fibrillary acidic protein by oncostatin M in osteosarcoma cells require PKCdelta and STAT3.Q40505562
Blepharophimosis, hypoplastic radius, hypoplastic left heart, telecanthus, hydronephrosis, fused metacarpals, and "prehensile" halluces: a new syndrome?Q41926026
Mesomelic dysplasia with specific autopodal synostoses: a third observation and further delineation of the multiple congenital anomaly syndromeQ49031358
A case of mesomelic dysplasia Kantaputra type--new findings and a new diagnostic approach.Q51933948
Kantaputra mesomelic dysplasia: a second reported family.Q52089020
Mesomelic dysplasia with acral synostoses Verloes-David-Pfeiffer type: Follow-up study documents progressive clinical courseQ55738730
Array CGH analysis of copy number variation identifies 1284 new genes variant in healthy white males: implications for association studies of complex diseasesQ57249752
Dominant mesomelic shortness of stature with acral synostoses, umbilical anomalies, and soft palate agenesisQ57926353
Specific acromesomelia with facial and renal anomalies: a new syndromeQ72204740
Nosology and classification of genetic skeletal disorders: 2006 revisionQ79375682
Heparan sulfate structure in mice with genetically modified heparan sulfate productionQ80413581
P433issue1
P407language of work or nameEnglishQ1860
P921main subjectmesomelia-synostoses syndromeQ20828586
P304page(s)95-100
P577publication date2010-06-17
P1433published inAmerican Journal of Human GeneticsQ4744249
P1476titleMesomelia-synostoses syndrome results from deletion of SULF1 and SLCO5A1 genes at 8q13.
P478volume87