Loss-of-function mutations in LEMD3 result in osteopoikilosis, Buschke-Ollendorff syndrome and melorheostosis (Q28288338)

object named as

Bjorn Menten

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Ravi Savarirayan

object named as

Ravi Savarirayan

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author name string

Jan Hellemans

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Olena Preobrazhenska

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Andy Willaert

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Philippe Debeer

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Peter C M Verdonk

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Teresa Costa

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Katrien Janssens

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Stefan J T Vermeulen

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Filip Vanhoenacker

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Jean-Marie Naeyaert

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Kristin Verschueren

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Paul J Coucke

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language of work or name

English

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publication date

November 2004

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1213-8

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MAN1, an inner nuclear membrane protein that shares the LEM domain with lamina-associated polypeptide 2 and emerin

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Increased bone density in sclerosteosis is due to the deficiency of a novel secreted protein (SOST)

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Bone dysplasia sclerosteosis results from loss of the SOST gene product, a novel cystine knot-containing protein

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Accurate normalization of real-time quantitative RT-PCR data by geometric averaging of multiple internal control genes

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Direct binding of Smad3 and Smad4 to critical TGF beta-inducible elements in the promoter of human plasminogen activator inhibitor-type 1 gene

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International nosology and classification of constitutional disorders of bone (2001).

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1 reference

Melorheostosis in a family with autosomal dominant osteopoikilosis

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1 reference

XMAN1, an inner nuclear membrane protein, antagonizes BMP signaling by interacting with Smad1 in Xenopus embryos

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1 reference

Buschke-Ollendorff syndrome: report of a case and interpretation of the clinical phenotype as a type 2 segmental manifestation of an autosomal dominant skin disease

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1 reference

Melorheostosis: a review of 23 cases

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1 reference

Bone morphogenetic proteins, their antagonists, and the skeleton

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Domain-specific mutations in TGFB1 result in Camurati-Engelmann disease.

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1 reference

Impaired Smad7-Smurf-mediated negative regulation of TGF-beta signaling in scleroderma fibroblasts

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1 reference

1;17 translocations and other chromosome 17 rearrangements in human primary neuroblastoma tumors and cell lines

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1 reference

Parallel genotyping of over 10,000 SNPs using a one-primer assay on a high-density oligonucleotide array

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1 reference

SIP1, a novel zinc finger/homeodomain repressor, interacts with Smad proteins and binds to 5'-CACCT sequences in candidate target genes

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1 reference

RTPrimerDB: the real-time PCR primer and probe database

21 January 2018

1 reference

Mutations in the gene encoding the latency-associated peptide of TGF-β1 cause Camurati-Engelmann disease

21 January 2018

1 reference

Melorheostosis in a family with autosomal dominant osteopoikilosis: Report of a third family

21 January 2018

1 reference

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Melorheostosis in a patient with familial osteopoikilosis

1 reference

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Osteopoikilosis: a radiological and pathological study

1 reference

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Osteopoikilosis--a clinical and genetic study.

1 reference

7 January 2021

Melorheostosis may originate as a type 2 segmental manifestation of osteopoikilosis

1 reference

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Expression and regulation of intracellular SMAD signaling in scleroderma skin fibroblasts

1 reference

7 January 2021