Neonatal High Bone Mass With First Mutation of the NF-κB Complex: Heterozygous De Novo Missense (p.Asp512Ser) RELA (Rela/p65). (scientific article published on 14 July 2015)

Defective osteoclastogenesis by IKKbeta-null precursors is a result of receptor activator of NF-kappaB ligand (RANKL)-induced JNK-dependent apoptosis and impaired differentiation

Q42426515

Characterization of the human intestinal CD98 promoter and its regulation by interferon-gamma

Q42502374

The MPI Bioinformatics Toolkit for protein sequence analysis

Q42551891

Inducible phosphorylation of NF-kappa B p65 at serine 468 by T cell costimulation is mediated by IKK epsilon.

Q46890324

Insufficient p65 phosphorylation at S536 specifically contributes to the lack of NF-kappaB activation and transformation in resistant JB6 cells

Q47359699

Osteopetrosis, lymphedema, anhidrotic ectodermal dysplasia, and immunodeficiency in a boy and incontinentia pigmenti in his mother

Q50109397

Osteoclast-poor human osteopetrosis due to mutations in the gene encoding RANKL.

Q50335960

Osteopetrosis in mice lacking NF-kappaB1 and NF-kappaB2.

Q52192178

Smad7 mediates inhibition of Saos2 osteosarcoma cell differentiation by NFkappaB.

Q54633301

Osteopetrorickets. The paradox of plenty. Pathophysiology and treatment

Q70471761

Structural and functional analysis of the NF-kappa B p65 C terminus. An acidic and modular transactivation domain with the potential to adopt an alpha-helical conformation

Q72724356

Oropharyngeal skeletal disease accompanying high bone mass and novel LRP5 mutation

Q81639975

Inhibition of IKK activation, through sequestering NEMO, blocks PMMA-induced osteoclastogenesis and calvarial inflammatory osteolysis

Q83359110

Suppression of NF-kappaB increases bone formation and ameliorates osteopenia in ovariectomized mice

Q84973474

The NF-kappa B and I kappa B proteins: new discoveries and insights

Q24313579

Six novel missense mutations in the LDL receptor-related protein 5 (LRP5) gene in different conditions with an increased bone density

Q24531981

The p65 subunit is responsible for the strong transcription activating potential of NF-kappa B

Q24564667

RANK is essential for osteoclast and lymph node development

Q24598872

Structure of NF-kappa B p50 homodimer bound to a kappa B site

Q27729411

Pathogen recognition and innate immunity

Q27861084

The transcription factor nuclear factor-kappa B and cancer

Q28220764

Embryonic lethality and liver degeneration in mice lacking the RelA component of NF-κB

Q28508403

NF-kappa B subunit-specific regulation of the interleukin-8 promoter

Q28646361

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

Q29547161

From FastQ data to high confidence variant calls: the Genome Analysis Toolkit best practices pipeline

Q30872351

How NF-kappaB is activated: the role of the IkappaB kinase (IKK) complex

Q33797139

Cyclin-dependent kinase 6 phosphorylates NF-κB P65 at serine 536 and contributes to the regulation of inflammatory gene expression

Q34540259

Genetics, pathogenesis and complications of osteopetrosis.

Q34583757

Constitutive activation of IKK2/NF-κB impairs osteogenesis and skeletal development

Q35117972

A novel mutation in NFKBIA/IKBA results in a degradation-resistant N-truncated protein and is associated with ectodermal dysplasia with immunodeficiency

Q35231720

Rapid skeletal turnover in a radiographic mimic of osteopetrosis.

Q35343702

Role of NF-κB in the skeleton

Q35347883

Activation of nuclear factor kappa B inflammatory bowel disease

Q35350256

RelB is the NF-kappaB subunit downstream of NIK responsible for osteoclast differentiation

Q36499078

RelA/p65 promotes osteoclast differentiation by blocking a RANKL-induced apoptotic JNK pathway in mice

Q36638965

The roles of the classical and alternative nuclear factor-kappaB pathways: potential implications for autoimmunity and rheumatoid arthritis

Q36955377

Inhibition of osteoblastic bone formation by nuclear factor-kappaB.

Q37401772

A structural guide to proteins of the NF-kappaB signaling module

Q37412660

Tumor necrosis factor alpha represses bone morphogenetic protein (BMP) signaling by interfering with the DNA binding of Smads through the activation of NF-kappaB.

Q37467764

NF-κB RelB negatively regulates osteoblast differentiation and bone formation

Q37653034

Heritable sclerosing bone disorders: presentation and new molecular mechanisms

Q37730937

New knowledge on critical osteoclast formation and activation pathways from study of rare genetic diseases of osteoclasts: focus on the RANK/RANKL axis.

Q37748586

Non-canonical NF-κB signaling pathway

Q37822660

Autosomal dominant osteopetrosis revisited: lessons from recent studies

Q38112647

Osteopetrosis: genetics, treatment and new insights into osteoclast function.

Q38123371

The cytokine-induced conformational switch of nuclear factor κB p65 is mediated by p65 phosphorylation

Q39068433

Endogenous TNFalpha lowers maximum peak bone mass and inhibits osteoblastic Smad activation through NF-kappaB.

Q40176862

Inhibition of osteoblast differentiation by tumor necrosis factor-alpha

Q40840851

P433

issue

P407

language of work or name

English

Q1860

P921

main subject

NF-κB

Q411114

heterozygosity

Q124059385

P304

page(s)

163-172

P577

publication date

2015-08-06

P1433

published in

Journal of Bone and Mineral Research

Q15750941

P1476

title

Neonatal High Bone Mass With First Mutation of the NF-κB Complex: Heterozygous De Novo Missense (p.Asp512Ser) RELA (Rela/p65)

P478

volume

Reverse relations

cites work (P2860)

Q50041731	Genetics of Osteopetrosis.
Q92050583	The Role of NF-κB in Physiological Bone Development and Inflammatory Bone Diseases: Is NF-κB Inhibition "Killing Two Birds with One Stone"?
Q89198080	Unique Variant of NOD2 Pediatric Granulomatous Arthritis With Severe 1,25-Dihydroxyvitamin D-Mediated Hypercalcemia and Generalized Osteosclerosis