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Osteoclasts recycle via osteomorphs during RANKL-stimulated bone resorption

Cell, 2021-03, Vol.184 (5), p.1330-1347.e13

2021

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Glibenclamide reverses cardiovascular abnormalities of Cantu syndrome driven by KATP channel overactivity

The Journal of clinical investigation, 2020-03, Vol.130 (3), p.1116-1121

2020

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Bi-allelic CSF1R Mutations Cause Skeletal Dysplasia of Dysosteosclerosis-Pyle Disease Spectrum and Degenerative Encephalopathy with Brain Malformation

American journal of human genetics, 2019-05, Vol.104 (5), p.925-935

2019

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Sclerostin deficiency in humans

Bone (New York, N.Y.), 2017-03, Vol.96, p.51-62

2017

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Molecular mechanism of thiram-induced abnormal chondrocyte proliferation via lncRNA MSTRG.74.1-BNIP3 axis

Pesticide biochemistry and physiology, 2024-05, Vol.201, p.105847-105847, Article 105847

2024

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Genetic diseases of the Kennedy pathways for membrane synthesis

The Journal of biological chemistry, 2020-12, Vol.295 (51), p.17877-17886

2020

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Emerging role of Lon protease as a master regulator of mitochondrial functions

Biochimica et biophysica acta, 2016-08, Vol.1857 (8), p.1300-1306

2016

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Van Buchem disease: Clinical, biochemical, and densitometric features of patients and disease carriers

Journal of bone and mineral research, 2013-04, Vol.28 (4), p.848-854

2013

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The skeletal dysplasias

Genetics in medicine, 2010-06, Vol.12 (6), p.327-341

2010

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Natural history and genetic spectrum of the Turkish metaphyseal dysplasia cohort, including rare types caused by biallelic COL10A1, COL2A1, and LBR variants

Bone (New York, N.Y.), 2023-02, Vol.167, p.116614, Article 116614

2023

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The Triggering Receptor Expressed on Myeloid Cells 2: A Molecular Link of Neuroinflammation and Neurodegenerative Diseases

The Journal of biological chemistry, 2016-02, Vol.291 (9), p.4334-4341

Walter, Jochen

2016

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Effect of tetramethyl thiuram disulfide (thiram) in relation to tibial dyschondroplasia in chickens

Environmental science and pollution research international, 2018-10, Vol.25 (28), p.28264-28274

2018

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Hypo- and Hyper-Assembly Diseases of RNA–Protein Complexes

Trends in molecular medicine, 2016-07, Vol.22 (7), p.615-628

2016

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Multiple epiphyseal dysplasia and related disorders: Molecular genetics, disease mechanisms, and therapeutic avenues

Developmental dynamics, 2021-03, Vol.250 (3), p.345-359

2021

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Skeletal deterioration in COL2A1-related spondyloepiphyseal dysplasia occurs prior to osteoarthritis

Osteoarthritis and cartilage, 2020-03, Vol.28 (3), p.334-343

2020

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Direct induction of ramified microglia-like cells from human monocytes: dynamic microglial dysfunction in Nasu-Hakola disease

Scientific reports, 2014-05, Vol.4 (1), p.4957-4957, Article 4957

2014

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Sixteen years and counting: The current understanding of fibroblast growth factor receptor 3 (FGFR3) signaling in skeletal dysplasias

Human mutation, 2012-01, Vol.33 (1), p.29-41

2012

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Residue of thiram in food, suppresses immune system stress signals and disturbs sphingolipid metabolism in chickens

Veterinary immunology and immunopathology, 2022-05, Vol.247, p.110415, Article 110415

2022

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Ribosome biogenesis in skeletal development and the pathogenesis of skeletal disorders

Biochimica et biophysica acta, 2014-06, Vol.1842 (6), p.769-778

2014

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Effect of tetramethylpyrazine on tibial dyschondroplasia incidence, tibial angiogenesis, performance and characteristics via HIF-1α/VEGF signaling pathway in chickens

Scientific reports, 2018-02, Vol.8 (1), p.2495-10, Article 2495

2018

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Multi‐gene panel sequencing in highly consanguineous families and patients with congenital forms of skeletal dysplasias

Clinical genetics, 2024-07, Vol.106 (1), p.47-55

2024

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Homozygosity for Frameshift Mutations in XYLT2 Result in a Spondylo-Ocular Syndrome with Bone Fragility, Cataracts, and Hearing Defects

American journal of human genetics, 2015-06, Vol.96 (6), p.971-978

2015

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Tauopathy-associated PERK alleles are functional hypomorphs that increase neuronal vulnerability to ER stress

Human molecular genetics, 2018-11, Vol.27 (22), p.3951-3963

2018

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Osteoclasts recycle via osteomorphs during RANKL-stimulated bone resorption

Glibenclamide reverses cardiovascular abnormalities of Cantu syndrome driven by KATP channel overactivity

Bi-allelic CSF1R Mutations Cause Skeletal Dysplasia of Dysosteosclerosis-Pyle Disease Spectrum and Degenerative Encephalopathy with Brain Malformation

Sclerostin deficiency in humans

Molecular mechanism of thiram-induced abnormal chondrocyte proliferation via lncRNA MSTRG.74.1-BNIP3 axis

Genetic diseases of the Kennedy pathways for membrane synthesis

Emerging role of Lon protease as a master regulator of mitochondrial functions

Van Buchem disease: Clinical, biochemical, and densitometric features of patients and disease carriers

The skeletal dysplasias

Natural history and genetic spectrum of the Turkish metaphyseal dysplasia cohort, including rare types caused by biallelic COL10A1, COL2A1, and LBR variants

The Triggering Receptor Expressed on Myeloid Cells 2: A Molecular Link of Neuroinflammation and Neurodegenerative Diseases

Effect of tetramethyl thiuram disulfide (thiram) in relation to tibial dyschondroplasia in chickens

Hypo- and Hyper-Assembly Diseases of RNA–Protein Complexes

Multiple epiphyseal dysplasia and related disorders: Molecular genetics, disease mechanisms, and therapeutic avenues

Skeletal deterioration in COL2A1-related spondyloepiphyseal dysplasia occurs prior to osteoarthritis

Direct induction of ramified microglia-like cells from human monocytes: dynamic microglial dysfunction in Nasu-Hakola disease

Sixteen years and counting: The current understanding of fibroblast growth factor receptor 3 (FGFR3) signaling in skeletal dysplasias

Residue of thiram in food, suppresses immune system stress signals and disturbs sphingolipid metabolism in chickens

Ribosome biogenesis in skeletal development and the pathogenesis of skeletal disorders

Effect of tetramethylpyrazine on tibial dyschondroplasia incidence, tibial angiogenesis, performance and characteristics via HIF-1α/VEGF signaling pathway in chickens

Multi‐gene panel sequencing in highly consanguineous families and patients with congenital forms of skeletal dysplasias

Rare and de novo variants in 827 congenital diaphragmatic hernia probands implicate LONP1 as candidate risk gene

Homozygosity for Frameshift Mutations in XYLT2 Result in a Spondylo-Ocular Syndrome with Bone Fragility, Cataracts, and Hearing Defects

Tauopathy-associated PERK alleles are functional hypomorphs that increase neuronal vulnerability to ER stress

Integrated genome and transcriptome sequencing identifies a noncoding mutation in the genome replication factor DONSON as the cause of microcephaly-micromelia syndrome

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