Authors : Imren G; Department of Medical Genetics, Faculty of Medicine, Hacettepe University, 06100 Ankara, Türkiye.; Department of Medical and Surgical Research, Institute of Health Sciences, Hacettepe University, 06100 Ankara, Türkiye.

Subjects: Osteochondrodysplasias*/Osteochondrodysplasias*/Osteochondrodysplasias*/genetics ; Osteochondrodysplasias*/Osteochondrodysplasias*/Osteochondrodysplasias*/metabolism ; Osteochondrodysplasias*/Osteochondrodysplasias*/Osteochondrodysplasias*/pathology

Source: International journal of molecular sciences [Int J Mol Sci] 2025 Jan 28; Vol. 26 (3). Date of Electronic Publication: 2025 Jan 28.Publisher: MDPI Country of Publication: Switzerland NLM ID: 101092791 Publication Model: Electronic Cited Medium: Internet ISSN: 1422-0067

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A rare case of late-onset spondyloenchondrodysplasia with immune dysregulation presenting as adult-onset monogenic lupus.

Authors : Firat Senturk E; Division of Rheumatology, Department of Internal Medicine, Cerrahpasa Medical Faculty, Istanbul University-Cerrahpasa, Istanbul, Turkey.; Ayvaz BB

Subjects: Lupus Erythematosus, Systemic*/Lupus Erythematosus, Systemic*/Lupus Erythematosus, Systemic*/genetics ; Lupus Erythematosus, Systemic*/Lupus Erythematosus, Systemic*/Lupus Erythematosus, Systemic*/diagnosis ; Lupus Erythematosus, Systemic*/Lupus Erythematosus, Systemic*/Lupus Erythematosus, Systemic*/immunology Spondyloenchondrodysplasia

Source: Lupus [Lupus] 2025 Jan; Vol. 34 (1), pp. 108-114. Date of Electronic Publication: 2024 Nov 19.Publisher: SAGE Publications Country of Publication: England NLM ID: 9204265 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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RMRP variants inhibit the cell cycle checkpoints pathway in cartilage‑hair hypoplasia.

Authors : Gao J; Laboratory of Molecular Medicine, Institute of Maternal and Child Medicine Research, Shenzhen Maternity and Child Healthcare Hospital, Shenzhen, Guangdong 518040, P.R. China.; Zheng J

Subjects: Osteochondrodysplasias*/Osteochondrodysplasias*/Osteochondrodysplasias*/genetics ; Osteochondrodysplasias*/Osteochondrodysplasias*/Osteochondrodysplasias*/congenital ; Osteochondrodysplasias*/Osteochondrodysplasias*/Osteochondrodysplasias*/metabolism Cartilage-hair hypoplasia

Source: Molecular medicine reports [Mol Med Rep] 2025 Mar; Vol. 31 (3). Date of Electronic Publication: 2025 Jan 31.Publisher: D. A. Spandidos Country of Publication: Greece NLM ID: 101475259 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Acromesomelic Dysplasia With Homozygosity for a Likely Pathogenic BMPR1B Variant: Postaxial Polydactyly as a Novel Clinical Finding.

Authors : Abdelrazek IM; Department of Human Genetics, Medical Research Institute, Alexandria University, Alexandria, Egypt.; Knaus A

Subjects: Polydactyly*/Polydactyly*/Polydactyly*/genetics ; Polydactyly*/Polydactyly*/Polydactyly*/pathology ; Bone Morphogenetic Protein Receptors, Type I*/Bone Morphogenetic Protein Receptors, Type I*/Bone Morphogenetic Protein Receptors, Type I*/genetics Acromesomelic dysplasia; Polydactyly, Postaxial

Source: Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2024 Oct; Vol. 12 (10), pp. e70023.Publisher: John Wiley & Sons Country of Publication: United States NLM ID: 101603758 Publication Model: Print Cited Medium: Internet ISSN:

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Biallelic variants in SLC26A2 cause multiple epiphyseal dysplasia-4 by disturbing chondrocyte homeostasis.

Authors : Li S; Department of Molecular Orthopaedics, National Center for Orthopaedics, Beijing Research Institute of Traumatology and Orthopaedics, Beijing Jishuitan Hospital, Capital Medical University, Beijing, China.; Sheng Y

Subjects: Chondrocytes*/Chondrocytes*/Chondrocytes*/metabolism ; Chondrocytes*/Chondrocytes*/Chondrocytes*/pathology ; Sulfate Transporters*/Sulfate Transporters*/Sulfate Transporters*/genetics

Source: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2024 Jul 02; Vol. 19 (1), pp. 245. Date of Electronic Publication: 2024 Jul 02.Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172

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Identification of a founder effect involving n.197C>T variant in RMRP gene associated to cartilage-hair hypoplasia syndrome in Brazilian patients.

Authors : Gomes ME; Laboratório de Biologia Molecular/Medicina Genômica, Centro de Genética Médica Dr. José Carlos Cabral de Almeida & Serviço de Referência para Doenças Raras - Instituto Nacional de Saúde da Mulher, da Criança e do Adolescente Fernandes Figueira (IFF) - FIOCRUZ, Rio de Janeiro, Brazil. .; Kehdy F

Subjects: Founder Effect* ; Hirschsprung Disease*/Hirschsprung Disease*/Hirschsprung Disease*/genetics ; Osteochondrodysplasias*/Osteochondrodysplasias*/Osteochondrodysplasias*/genetics Cartilage-hair hypoplasia

Source: Scientific reports [Sci Rep] 2024 Jun 11; Vol. 14 (1), pp. 13436. Date of Electronic Publication: 2024 Jun 11.Publisher: Nature Publishing Group Country of Publication: England NLM ID: 101563288 Publication Model: Electronic Cited Medium: Internet ISSN:

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Homozygous TREM2 c.549del; p.(Leu184Serfs*5) variant causing Nasu-Hakola disease in three siblings in a consanguineous Iraqi family: Case report and review of literature.

Authors : Gilani N; Department of Biology, Gaziantep University, Gaziantep, Turkey.; Farabi Molecular Laboratory, Irbil, Iraq.

Subjects: Homozygote* ; Lipodystrophy*/Lipodystrophy*/Lipodystrophy*/genetics ; Lipodystrophy*/Lipodystrophy*/Lipodystrophy*/pathology Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy

Source: Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2024 Jun; Vol. 12 (6), pp. e2476.Publisher: John Wiley & Sons Country of Publication: United States NLM ID: 101603758 Publication Model: Print Cited Medium: Internet ISSN:

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Prevalence of T-2 Toxin in the Food and Beverages of Residents Living in a Kashin–Beck-Disease Area of Qamdo, Tibet.

Authors : Jiang, Tong^1,2 ; Yan, Junan³; Tan, Hongxing³

Subjects: *RISK assessment; *REFERENCE values; *RESEARCH fundingTIBET (China)

Source: Nutrients. May2024, Vol. 16 Issue 10, p1449. 9p.

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Altered oral microbiome, but normal human papilloma virus prevalence in cartilage-hair hypoplasia patients.

Authors : Arponen H; Department of Oral and Maxillofacial Diseases, Helsinki University Hospital Head and Neck Center, University of Helsinki, Haartmaninkatu 1, Helsinki, Finland. .; Pediatric Research Center, Children's Hospital, University of Helsinki, Helsinki University Hospital, Helsinki, Finland. .

Subjects: Hair*/Hair*/Hair*/abnormalities ; Hirschsprung Disease* ; Microbiota* Cartilage-hair hypoplasia

Source: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2024 Apr 18; Vol. 19 (1), pp. 169. Date of Electronic Publication: 2024 Apr 18.Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172

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نتائج البحث

فلترة النتائج

Kashin–Beck Disease: A Risk Factor for Sarcopenia and Its Interaction with Selenium.

Unraveling the Role of RSPRY1 in TGF-β Pathway Dysregulation: Insights into the Pathogenesis of Spondyloepimetaphyseal Dysplasia.

A rare case of late-onset spondyloenchondrodysplasia with immune dysregulation presenting as adult-onset monogenic lupus.

RMRP variants inhibit the cell cycle checkpoints pathway in cartilage‑hair hypoplasia.

Acromesomelic Dysplasia With Homozygosity for a Likely Pathogenic BMPR1B Variant: Postaxial Polydactyly as a Novel Clinical Finding.

Biallelic variants in SLC26A2 cause multiple epiphyseal dysplasia-4 by disturbing chondrocyte homeostasis.

Identification of a founder effect involving n.197C>T variant in RMRP gene associated to cartilage-hair hypoplasia syndrome in Brazilian patients.

Homozygous TREM2 c.549del; p.(Leu184Serfs*5) variant causing Nasu-Hakola disease in three siblings in a consanguineous Iraqi family: Case report and review of literature.

Prevalence of T-2 Toxin in the Food and Beverages of Residents Living in a Kashin–Beck-Disease Area of Qamdo, Tibet.

Altered oral microbiome, but normal human papilloma virus prevalence in cartilage-hair hypoplasia patients.

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