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Tytuł:
Impaired Autophagic Clearance with a Gain-of-Function Variant of the Lysosomal Cl Exchanger ClC-7.
Autorzy:
Bose S; Institute for Molecular Medicine, MSH Medical School Hamburg, 20457 Hamburg, Germany.; Institute of Chemistry and Biochemistry, Freie Universität Berlin, 14195 Berlin, Germany.
de Heus C; Center for Molecular Medicine/Cell Biology, University Medical Center (UMC), 3584 CX Utrecht, The Netherlands.
Kennedy ME; Institute of Chemistry and Biochemistry, Freie Universität Berlin, 14195 Berlin, Germany.
Wang F; Institute for Molecular Medicine, MSH Medical School Hamburg, 20457 Hamburg, Germany.; Institute of Chemistry and Biochemistry, Freie Universität Berlin, 14195 Berlin, Germany.
Jentsch TJ; Leibniz-Forschungsinstitut für Molekulare Pharmakologie (FMP), 13125 Berlin, Germany.; NeuroCure Cluster of Excellence, Charité Universitätsmedizin Berlin, 10117 Berlin, Germany.
Klumperman J; Center for Molecular Medicine/Cell Biology, University Medical Center (UMC), 3584 CX Utrecht, The Netherlands.
Stauber T; Institute for Molecular Medicine, MSH Medical School Hamburg, 20457 Hamburg, Germany.; Institute of Chemistry and Biochemistry, Freie Universität Berlin, 14195 Berlin, Germany.
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Źródło:
Biomolecules [Biomolecules] 2023 Dec 15; Vol. 13 (12). Date of Electronic Publication: 2023 Dec 15.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Osteopetrosis*/genetics
Osteopetrosis*/metabolism
Mice ; Animals ; Humans ; Gain of Function Mutation ; Mutation ; Lysosomes/metabolism ; Tyrosine/metabolism ; Chloride Channels/genetics ; Chloride Channels/metabolism
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Fluconazole-Induced Protein Changes in Osteogenic and Immune Metabolic Pathways of Dental Pulp Mesenchymal Stem Cells of Osteopetrosis Patients.
Autorzy:
Alkhayal Z; Therapeutics & Biomarker Discovery for Clinical Applications, Cell Therapy & Immunobiology Department, King Faisal Specialist Hospital & Research Centre, P.O. Box 3354, Riyadh 11211, Saudi Arabia.; Department of Dentistry, King Faisal Specialist Hospital & Research Centre, P.O. Box 3354, Riyadh 11211, Saudi Arabia.
Shinwari Z; Therapeutics & Biomarker Discovery for Clinical Applications, Cell Therapy & Immunobiology Department, King Faisal Specialist Hospital & Research Centre, P.O. Box 3354, Riyadh 11211, Saudi Arabia.
Gaafar A; Therapeutics & Biomarker Discovery for Clinical Applications, Cell Therapy & Immunobiology Department, King Faisal Specialist Hospital & Research Centre, P.O. Box 3354, Riyadh 11211, Saudi Arabia.
Alaiya A; Therapeutics & Biomarker Discovery for Clinical Applications, Cell Therapy & Immunobiology Department, King Faisal Specialist Hospital & Research Centre, P.O. Box 3354, Riyadh 11211, Saudi Arabia.
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Źródło:
International journal of molecular sciences [Int J Mol Sci] 2023 Sep 08; Vol. 24 (18). Date of Electronic Publication: 2023 Sep 08.
Typ publikacji:
Journal Article
MeSH Terms:
Osteopetrosis*/drug therapy
Mesenchymal Stem Cells*
Humans ; Fluconazole/pharmacology ; Fluconazole/therapeutic use ; Osteogenesis ; Dental Pulp ; Azoles ; Metabolic Networks and Pathways ; rap GTP-Binding Proteins
SCR Disease Name:
Osteopetrosis with renal tubular acidosis
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Molecular Mechanisms of Craniofacial and Dental Abnormalities in Osteopetrosis.
Autorzy:
Ma Y; College of Life Sciences, Northwest University, Xi'an 710069, China.; State Key Laboratory of Military Stomatology, National Clinical Research Center for Oral Disease, Shaanxi Key Laboratory of Stomatology, Department of Oral Biology & Clinic of Oral Rare Diseases and Genetic Diseases, School of Stomatology, The Fourth Military Medical University, Xi'an 710032, China.
Xu Y; College of Life Sciences, Northwest University, Xi'an 710069, China.; State Key Laboratory of Military Stomatology, National Clinical Research Center for Oral Disease, Shaanxi Key Laboratory of Stomatology, Department of Oral Biology & Clinic of Oral Rare Diseases and Genetic Diseases, School of Stomatology, The Fourth Military Medical University, Xi'an 710032, China.
Zhang Y; State Key Laboratory of Military Stomatology, National Clinical Research Center for Oral Disease, Shaanxi Key Laboratory of Stomatology, Department of Oral Biology & Clinic of Oral Rare Diseases and Genetic Diseases, School of Stomatology, The Fourth Military Medical University, Xi'an 710032, China.
Duan X; State Key Laboratory of Military Stomatology, National Clinical Research Center for Oral Disease, Shaanxi Key Laboratory of Stomatology, Department of Oral Biology & Clinic of Oral Rare Diseases and Genetic Diseases, School of Stomatology, The Fourth Military Medical University, Xi'an 710032, China.
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Źródło:
International journal of molecular sciences [Int J Mol Sci] 2023 Jun 20; Vol. 24 (12). Date of Electronic Publication: 2023 Jun 20.
Typ publikacji:
Journal Article; Review
MeSH Terms:
Osteopetrosis*/genetics
Osteopetrosis*/pathology
Bone Resorption*
Vacuolar Proton-Translocating ATPases*/metabolism
Humans ; Bone and Bones/metabolism ; Phenotype ; Chloride Channels/metabolism ; Mutation
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Malignant infantile osteopetrosis in a 3-year-old Yemeni child: a case report.
Autorzy:
Thabet S; Hematology and Internal Medicine Department, Faculty of Medicine, Taiz University of Medical Sciences, Taiz, Yemen.; Department of Internal Medicine, Saeed Thabet Nasher Hospital, Taiz, Yemen.
Almajeedi M; Department of Internal Medicine, Saeed Thabet Nasher Hospital, Taiz, Yemen.; Department of Internal Medicine, Faculty of Medicine, Taiz University of Medical Sciences, Taiz, Yemen.
Mohammed M; Department of Internal Medicine, Saeed Thabet Nasher Hospital, Taiz, Yemen.; Department of Internal Medicine, Faculty of Medicine, Taiz University of Medical Sciences, Taiz, Yemen.
Ahmed F; Urology Research Center, Al-Thora General Hospital, Department of Urology, School of Medicine, Ibb University of Medical Sciences, Ibb, Yemen.
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Źródło:
The Pan African medical journal [Pan Afr Med J] 2022 Sep 19; Vol. 43, pp. 30. Date of Electronic Publication: 2022 Sep 19 (Print Publication: 2022).
Typ publikacji:
Case Reports
MeSH Terms:
Osteopetrosis*/complications
Osteopetrosis*/diagnosis
Infant, Newborn ; Child ; Female ; Humans ; Child, Preschool ; Osteoclasts ; Atrophy ; Bone Density ; Cell Differentiation
Raport
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Anatomical study for elucidating the stabilization mechanism in the trapeziometacarpal joint.
Autorzy:
Norose M; Department of Clinical Anatomy, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University, Tokyo, Japan.; Department of Orthopaedic and Spinal Surgery, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University, Tokyo, Japan.
Nimura A; Department of Functional Joint Anatomy, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University, 1-5-45 Yushima, Bunkyo-Ku, Tokyo, 113-8519, Japan. .
Tsutsumi M; Department of Clinical Anatomy, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University, Tokyo, Japan.; Inclusive Medical Science Research Institute, Morinomiya University of Medical Sciences, Osaka, Japan.
Fujita K; Department of Functional Joint Anatomy, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University, 1-5-45 Yushima, Bunkyo-Ku, Tokyo, 113-8519, Japan.
Okawa A; Department of Orthopaedic and Spinal Surgery, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University, Tokyo, Japan.
Akita K; Department of Clinical Anatomy, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University, Tokyo, Japan.
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Źródło:
Scientific reports [Sci Rep] 2022 Dec 01; Vol. 12 (1), pp. 20790. Date of Electronic Publication: 2022 Dec 01.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Osteoarthritis*/diagnostic imaging
Osteopetrosis*
Trapezium Bone*/diagnostic imaging
Humans ; Thumb ; X-Ray Microtomography
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Ectodysplasin A1 Deficiency Leads to Osteopetrosis-like Changes in Bones of the Skull Associated with Diminished Osteoclastic Activity.
Autorzy:
Schweikl C; Department of Pediatrics, University Hospital Erlangen, Friedrich-Alexander University Erlangen-Nürnberg, 91054 Erlangen, Germany.; Center for Ectodermal Dysplasias, University Hospital Erlangen, Friedrich-Alexander University Erlangen-Nürnberg, 91054 Erlangen, Germany.
Maier-Wohlfart S; Department of Pediatrics, University Hospital Erlangen, Friedrich-Alexander University Erlangen-Nürnberg, 91054 Erlangen, Germany.; Center for Ectodermal Dysplasias, University Hospital Erlangen, Friedrich-Alexander University Erlangen-Nürnberg, 91054 Erlangen, Germany.
Schneider H; Department of Pediatrics, University Hospital Erlangen, Friedrich-Alexander University Erlangen-Nürnberg, 91054 Erlangen, Germany.; Center for Ectodermal Dysplasias, University Hospital Erlangen, Friedrich-Alexander University Erlangen-Nürnberg, 91054 Erlangen, Germany.
Park J; Department of Pediatrics, University Hospital Erlangen, Friedrich-Alexander University Erlangen-Nürnberg, 91054 Erlangen, Germany.; Center for Ectodermal Dysplasias, University Hospital Erlangen, Friedrich-Alexander University Erlangen-Nürnberg, 91054 Erlangen, Germany.
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Źródło:
International journal of molecular sciences [Int J Mol Sci] 2022 Oct 13; Vol. 23 (20). Date of Electronic Publication: 2022 Oct 13.
Typ publikacji:
Journal Article
MeSH Terms:
Osteopetrosis*/genetics
Ectodermal Dysplasia 1, Anhidrotic*
Mice ; Animals ; Ectodysplasins/genetics ; Cathepsin K/genetics ; Macrophage Colony-Stimulating Factor ; Matrix Metalloproteinase 9 ; NF-kappa B/metabolism ; Osteoclasts/metabolism ; Protons ; Luciferases ; Skull/metabolism ; Adenosine Triphosphatases
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Critical Roles of NF-κB Signaling Molecules in Bone Metabolism Revealed by Genetic Mutations in Osteopetrosis.
Autorzy:
Jimi E; Laboratory of Molecular and Cellular Biochemistry, Division of Oral Biological Sciences, Faculty of Dental Science, Kyushu University, 3-1-1 Maidashi, Higashi-ku, Fukuoka 812-8582, Japan.; Oral Health/Brain Health/Total Health Research Center, Faculty of Dental Science, Kyushu University, 3-1-1 Maidashi, Higashi-ku, Fukuoka 812-8582, Japan.
Katagiri T; Research Center for Genomic Medicine, Division of Biomedical Sciences, Saitama Medical University, 1397-1 Yamane, Hidaka-shi, Saitama 350-1241, Japan.
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Źródło:
International journal of molecular sciences [Int J Mol Sci] 2022 Jul 20; Vol. 23 (14). Date of Electronic Publication: 2022 Jul 20.
Typ publikacji:
Journal Article; Review
MeSH Terms:
NF-kappa B*/metabolism
Osteopetrosis*/genetics
Osteopetrosis*/metabolism
Animals ; Mice ; Mutation ; Osteoclasts/metabolism ; Signal Transduction/genetics ; Tumor Necrosis Factor-alpha/metabolism
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Anterior cruciate ligament rupture in a patient with Albers-Schonberg disease.
Autorzy:
Lu K; Department of Orthopedics, Affiliated Kunshan Hospital of Jiangsu University, No. 91 West of Qianjin Road, Suzhou, 215300, Jiangsu, China.
Cheng B; Department of Orthopedics, Shanghai Tenth People's Hospital, Shanghai, 200072, China.
Shi Q; Department of Orthopedics, the First Affiliated Hospital of Soochow University, Orthopedic Institute of Soochow University, Suzhou, 215031, Jiangsu, China.
Gao XJ; Department of Pathology, Affiliated Kunshan Hospital of Jiangsu University, Suzhou, 215300, Jiangsu, China.
Li C; Department of Orthopedics, Affiliated Kunshan Hospital of Jiangsu University, No. 91 West of Qianjin Road, Suzhou, 215300, Jiangsu, China. .
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Źródło:
BMC musculoskeletal disorders [BMC Musculoskelet Disord] 2022 Jul 28; Vol. 23 (1), pp. 719. Date of Electronic Publication: 2022 Jul 28.
Typ publikacji:
Case Reports; Journal Article
MeSH Terms:
Anterior Cruciate Ligament Injuries*/diagnostic imaging
Anterior Cruciate Ligament Injuries*/surgery
Anterior Cruciate Ligament Reconstruction*/adverse effects
Joint Instability*/surgery
Osteopetrosis*/surgery
Adult ; Anterior Cruciate Ligament/diagnostic imaging ; Anterior Cruciate Ligament/surgery ; Chloride Channels ; Female ; Follow-Up Studies ; Humans ; Knee Joint/diagnostic imaging ; Knee Joint/surgery ; Lysholm Knee Score ; Rupture/surgery ; Treatment Outcome
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
The Treatment of Subtrochanteric Fracture with Reversed Contralateral Distal Femoral Locking Compression Plate (DF-LCP) Using a Progressive and Intermittent Drilling Procedure in Three Osteopetrosis Patients.
Autorzy:
Tu Y; Department of Orthopaedics, Shandong Provincial Hospital affiliated to Shandong University, Jinan, China.
Liu FX; Department of Orthopaedics, Shandong Provincial Hospital affiliated to Shandong University, Jinan, China.; Department of Orthopaedics, Shandong Provincial Hospital affiliated to Shandong First Medical University, Jinan, China.
Jia HL; Department of Orthopaedics, Shandong Provincial Hospital affiliated to Shandong University, Jinan, China.; Department of Orthopaedics, Shandong Provincial Hospital affiliated to Shandong First Medical University, Jinan, China.
Yang JJ; Department of Radiotherapy, Shandong Cancer Hospital and Institute, Shandong First Medical University and Shandong Academy of Medical Sciences, Jinan, China.
Lv XL; Department of Orthopaedics, Shandong Provincial Hospital affiliated to Shandong University, Jinan, China.
Li C; Department of Anesthesia Surgery, Shandong Provincial Hospital affiliated to Shandong First Medical University, Jinan, China.
Wu JW; Department of Orthopaedics, Shandong Provincial Hospital affiliated to Shandong University, Jinan, China.; Department of Orthopaedics, Shandong Provincial Hospital affiliated to Shandong First Medical University, Jinan, China.
Wang F; Department of Orthopaedics, Shandong Provincial Hospital affiliated to Shandong University, Jinan, China.; Department of Orthopaedics, Shandong Provincial Hospital affiliated to Shandong First Medical University, Jinan, China.
Yang YL; Department of Orthopaedics, Shandong Provincial Hospital affiliated to Shandong University, Jinan, China.; Department of Orthopaedics, Shandong Provincial Hospital affiliated to Shandong First Medical University, Jinan, China.
Wang BM; Department of Orthopaedics, Shandong Provincial Hospital affiliated to Shandong University, Jinan, China.; Department of Orthopaedics, Shandong Provincial Hospital affiliated to Shandong First Medical University, Jinan, China.
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Źródło:
Orthopaedic surgery [Orthop Surg] 2022 Feb; Vol. 14 (2), pp. 254-263. Date of Electronic Publication: 2021 Dec 15.
Typ publikacji:
Journal Article
MeSH Terms:
Hip Fractures*/diagnostic imaging
Hip Fractures*/surgery
Osteopetrosis*
Adult ; Bone Plates ; Female ; Fracture Fixation, Internal/methods ; Humans ; Male ; Middle Aged ; Open Fracture Reduction ; Retrospective Studies ; Treatment Outcome
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
The Role of the Lysosomal Cl Antiporter ClC-7 in Osteopetrosis and Neurodegeneration.
Autorzy:
Zifarelli G; Institute of Biophysics-CNR, 16149 Genova, Italy.
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Źródło:
Cells [Cells] 2022 Jan 21; Vol. 11 (3). Date of Electronic Publication: 2022 Jan 21.
Typ publikacji:
Journal Article; Review
MeSH Terms:
Bone Resorption*/metabolism
Chloride Channels*/genetics
Chloride Channels*/metabolism
Lysosomal Storage Diseases*/metabolism
Osteopetrosis*/genetics
Osteopetrosis*/metabolism
Osteopetrosis*/pathology
Antiporters/genetics ; Antiporters/metabolism ; Humans ; Lysosomes/metabolism
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Osteopetrosis with mandibular osteomyelitis.
Autorzy:
Sadaksharam J; Department of Oral Medicine & Radiology, Tamil Nadu Government Dental College & Hospital, Chennai 600 003, Tamil Nadu, India.
Kathiresan I; Department of Oral Medicine & Radiology, Tamil Nadu Government Dental College & Hospital, Chennai 600 003, Tamil Nadu, India.
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Źródło:
The Indian journal of medical research [Indian J Med Res] 2022 Jan; Vol. 155 (1), pp. 81-82.
Typ publikacji:
Journal Article
MeSH Terms:
Osteomyelitis*/complications
Osteomyelitis*/diagnostic imaging
Osteopetrosis*/complications
Osteopetrosis*/diagnostic imaging
Osteopetrosis*/genetics
Humans
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Hearing Loss in Malignant Infantile Osteopetrosis: A Case-Based Review.
Autorzy:
De Cuyper E; Department of Otorhinolaryngology, Ghent University Hospital, Ghent, Belgium.
De Cuyper C; Department of Pediatrics, University Hospital Brussels, Jette, Belgium.
Willems L; Department of Internal Medicine and Pediatrics, Ghent University Hospital, Ghent, Belgium.
Casselman J; Department of Radiology, AZ St-Jan Brugge AV, Brugge, Belgium.
Dhooge I; Department of Otorhinolaryngology, Ghent University Hospital, Ghent, Belgium.
Van Hoecke H; Department of Otorhinolaryngology, Ghent University Hospital, Ghent, Belgium.
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Źródło:
The journal of international advanced otology [J Int Adv Otol] 2021 Nov; Vol. 17 (6), pp. 551-558.
Typ publikacji:
Case Reports; Journal Article
MeSH Terms:
Hearing Loss*/complications
Osteopetrosis*/complications
Osteopetrosis*/genetics
Osteopetrosis*/pathology
Audiometry ; Hearing Loss, Conductive/etiology ; Humans ; Middle Ear Ventilation/adverse effects
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Clinical and molecular characterization of five Chinese patients with autosomal recessive osteopetrosis.
Autorzy:
Liang H; Key Laboratory of Pediatric Hematology and Oncology, Ministry of Health, Department of Hematology and Oncology, Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai, China.
Li N; Department of Medical Genetics and Molecular Diagnostic Laboratory, Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai, China.; Shanghai Key Laboratory of Clinical Molecular Diagnostics for Pediatrics, Shanghai, China.
Yao RE; Department of Medical Genetics and Molecular Diagnostic Laboratory, Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai, China.; Shanghai Key Laboratory of Clinical Molecular Diagnostics for Pediatrics, Shanghai, China.
Yu T; Department of Medical Genetics and Molecular Diagnostic Laboratory, Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai, China.; Shanghai Key Laboratory of Clinical Molecular Diagnostics for Pediatrics, Shanghai, China.
Ding L; Key Laboratory of Pediatric Hematology and Oncology, Ministry of Health, Department of Hematology and Oncology, Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai, China.
Chen J; Key Laboratory of Pediatric Hematology and Oncology, Ministry of Health, Department of Hematology and Oncology, Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai, China.
Wang J; Department of Medical Genetics and Molecular Diagnostic Laboratory, Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai, China.; Shanghai Key Laboratory of Clinical Molecular Diagnostics for Pediatrics, Shanghai, China.
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Źródło:
Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2021 Nov; Vol. 9 (11), pp. e1815. Date of Electronic Publication: 2021 Sep 21.
Typ publikacji:
Case Reports; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Chloride Channels/*genetics
Osteopetrosis/*genetics
Vacuolar Proton-Translocating ATPases/*genetics
Child, Preschool ; Female ; Genes, Recessive ; Humans ; Infant ; Male ; Mutation ; Osteopetrosis/pathology
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Brain Abscess in a Patient with Osteopetrosis: A Rare Complication
Autorzy:
İşeri Nepesov M; Eskişehir Osmangazi University Faculty of Medicine, Department of Pediatric Infectious Diseases, Eskişehir, Turkey
Kıral E; Eskişehir Osmangazi University Faculty of Medicine, Department of Pediatric Intensive Care Unit, Eskişehir, Turkey
Bozan G; Eskişehir Osmangazi University Faculty of Medicine, Department of Pediatric Intensive Care Unit, Eskişehir, Turkey
Kılıç Ö; Eskişehir Osmangazi University Faculty of Medicine, Department of Pediatric Infectious Diseases, Eskişehir, Turkey
Çarman KB; Eskişehir Osmangazi University Faculty of Medicine, Department of Pediatric Neurology, Eskişehir, Turkey
Yarar C; Eskişehir Osmangazi University Faculty of Medicine, Department of Pediatric Neurology, Eskişehir, Turkey
Şaylısoy S; Eskişehir Osmangazi University Faculty of Medicine, Department of Radiology, Eskişehir, Turkey
Dinleyici EÇ; Eskişehir Osmangazi University Faculty of Medicine, Department of Pediatric Intensive Care Unit, Eskişehir, Turkey
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Źródło:
Journal of clinical research in pediatric endocrinology [J Clin Res Pediatr Endocrinol] 2021 Aug 23; Vol. 13 (3), pp. 358-361. Date of Electronic Publication: 2020 Aug 25.
Typ publikacji:
Case Reports
MeSH Terms:
Immunocompromised Host*
Agammaglobulinemia/*immunology
Brain Abscess/*microbiology
Central Nervous System Bacterial Infections/*microbiology
Osteopetrosis/*immunology
Streptococcal Infections/*microbiology
Viridans Streptococci/*isolation & purification
Adolescent ; Agammaglobulinemia/diagnosis ; Agammaglobulinemia/genetics ; Anti-Bacterial Agents/therapeutic use ; Brain Abscess/diagnosis ; Brain Abscess/immunology ; Brain Abscess/therapy ; Central Nervous System Bacterial Infections/diagnosis ; Central Nervous System Bacterial Infections/immunology ; Central Nervous System Bacterial Infections/therapy ; Drainage ; Humans ; Male ; Osteopetrosis/diagnosis ; Osteopetrosis/genetics ; Risk Factors ; Streptococcal Infections/diagnosis ; Streptococcal Infections/immunology ; Streptococcal Infections/therapy ; Treatment Outcome ; Viridans Streptococci/drug effects
SCR Disease Name:
Osteopetrosis, Autosomal Recessive 7
Raport
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Rhabdomyosarcoma of the uterus in an adult patient with osteopetrosis: a case report.
Autorzy:
Aminimoghaddam S; Department of Obstetrics and Gynecology, Firoozgar Hospital, Iran University of Medical Sciences, Tehran, Iran.
Rahbari A; Department of Pathology, Jam Hospital, Tehran, Iran.
Pourali R; Department of Obstetrics and Gynecology, Jam Hospital, Fajr Street, Motahari Street, 1588657915, Tehran, Iran. .
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Źródło:
Journal of medical case reports [J Med Case Rep] 2021 Nov 28; Vol. 15 (1), pp. 570. Date of Electronic Publication: 2021 Nov 28.
Typ publikacji:
Case Reports; Journal Article
MeSH Terms:
Osteopetrosis*
Rhabdomyosarcoma*/diagnostic imaging
Rhabdomyosarcoma*/therapy
Rhabdomyosarcoma, Embryonal*
Uterine Cervical Neoplasms*/therapy
Uterine Neoplasms*/diagnostic imaging
Adult ; Child ; Female ; Humans ; Iran ; Middle Aged ; Uterus/diagnostic imaging
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Multiomics landscape of the autosomal dominant osteopetrosis type II disease-specific induced pluripotent stem cells.
Autorzy:
Li C; Central Laboratory, Guangxi Health Commission Key Laboratory of Glucose and Lipid Metabolism Disorders, The Second Affiliated Hospital of Guilin Medical University, Guilin, Guangxi, 541199, People's Republic of China.
Shangguan Y; Clinical Medical Research Center, Guangdong Provincial Engineering Research Center of Autoimmune Disease Precision Medicine, Shenzhen Engineering Research Center of Autoimmune Disease, The Second Clinical Medical College of Jinan University, The First Affiliated Hospital of Southern University of Science and Technology, Shenzhen People's Hospital, Shenzhen, Guangdong, 518020, People's Republic of China.; Guangxi Key Laboratory of Metabolic Disease Research, Central Laboratory of Guilin, NO. 924 Hospital, Guilin, 541002, People's Republic of China.
Zhu P; Clinical Medical Research Center, Guangdong Provincial Engineering Research Center of Autoimmune Disease Precision Medicine, Shenzhen Engineering Research Center of Autoimmune Disease, The Second Clinical Medical College of Jinan University, The First Affiliated Hospital of Southern University of Science and Technology, Shenzhen People's Hospital, Shenzhen, Guangdong, 518020, People's Republic of China.
Dai W; College of Natural Science, University of Texas at Austin, Austin, TX, 78712, USA.
Tang D; Clinical Medical Research Center, Guangdong Provincial Engineering Research Center of Autoimmune Disease Precision Medicine, Shenzhen Engineering Research Center of Autoimmune Disease, The Second Clinical Medical College of Jinan University, The First Affiliated Hospital of Southern University of Science and Technology, Shenzhen People's Hospital, Shenzhen, Guangdong, 518020, People's Republic of China. .
Ou M; Central Laboratory, Guangxi Health Commission Key Laboratory of Glucose and Lipid Metabolism Disorders, The Second Affiliated Hospital of Guilin Medical University, Guilin, Guangxi, 541199, People's Republic of China. .
Dai Y; Clinical Medical Research Center, Guangdong Provincial Engineering Research Center of Autoimmune Disease Precision Medicine, Shenzhen Engineering Research Center of Autoimmune Disease, The Second Clinical Medical College of Jinan University, The First Affiliated Hospital of Southern University of Science and Technology, Shenzhen People's Hospital, Shenzhen, Guangdong, 518020, People's Republic of China. .
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Źródło:
Hereditas [Hereditas] 2021 Oct 27; Vol. 158 (1), pp. 40. Date of Electronic Publication: 2021 Oct 27.
Typ publikacji:
Journal Article
MeSH Terms:
Induced Pluripotent Stem Cells*
Osteopetrosis*/genetics
Chloride Channels ; Humans ; Osteoclasts ; Proteome
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Haploidentical haematopoietic stem cell transplantation for malignant infantile osteopetrosis and intermediate osteopetrosis: a retrospective analysis of a single centre.
Autorzy:
Zhu G; Hematology Center, Beijing Key Laboratory of Pediatric Hematology Oncology, National Key Discipline of Pediatrics (Capital Medical University), Key Laboratory of Major Disease in Children, Ministry of Education, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, 100045, China.
Wei A; Hematology Center, Beijing Key Laboratory of Pediatric Hematology Oncology, National Key Discipline of Pediatrics (Capital Medical University), Key Laboratory of Major Disease in Children, Ministry of Education, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, 100045, China.
Wang B; Hematology Center, Beijing Key Laboratory of Pediatric Hematology Oncology, National Key Discipline of Pediatrics (Capital Medical University), Key Laboratory of Major Disease in Children, Ministry of Education, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, 100045, China.
Yang J; Hematology Center, Beijing Key Laboratory of Pediatric Hematology Oncology, National Key Discipline of Pediatrics (Capital Medical University), Key Laboratory of Major Disease in Children, Ministry of Education, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, 100045, China.
Yan Y; Hematology Center, Beijing Key Laboratory of Pediatric Hematology Oncology, National Key Discipline of Pediatrics (Capital Medical University), Key Laboratory of Major Disease in Children, Ministry of Education, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, 100045, China.
Wang K; Hematology Center, Beijing Key Laboratory of Pediatric Hematology Oncology, National Key Discipline of Pediatrics (Capital Medical University), Key Laboratory of Major Disease in Children, Ministry of Education, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, 100045, China.
Jia C; Hematology Center, Beijing Key Laboratory of Pediatric Hematology Oncology, National Key Discipline of Pediatrics (Capital Medical University), Key Laboratory of Major Disease in Children, Ministry of Education, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, 100045, China.
Luo Y; Hematology Center, Beijing Key Laboratory of Pediatric Hematology Oncology, National Key Discipline of Pediatrics (Capital Medical University), Key Laboratory of Major Disease in Children, Ministry of Education, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, 100045, China.
Li S; Hematology Center, Beijing Key Laboratory of Pediatric Hematology Oncology, National Key Discipline of Pediatrics (Capital Medical University), Key Laboratory of Major Disease in Children, Ministry of Education, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, 100045, China.
Zhou X; Hematology Center, Beijing Key Laboratory of Pediatric Hematology Oncology, National Key Discipline of Pediatrics (Capital Medical University), Key Laboratory of Major Disease in Children, Ministry of Education, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, 100045, China.
Wang T; Hematology Center, Beijing Key Laboratory of Pediatric Hematology Oncology, National Key Discipline of Pediatrics (Capital Medical University), Key Laboratory of Major Disease in Children, Ministry of Education, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, 100045, China. .; Department of Hematology and Oncology, Beijing Children's Hospital, Capital Medical University, Nanlishi Road No. 56, Xicheng District, Beijing, 100045, China. .
Zheng H; Hematology Center, Beijing Key Laboratory of Pediatric Hematology Oncology, National Key Discipline of Pediatrics (Capital Medical University), Key Laboratory of Major Disease in Children, Ministry of Education, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, 100045, China. .; Department of Hematology and Oncology, Beijing Children's Hospital, Capital Medical University, Nanlishi Road No. 56, Xicheng District, Beijing, 100045, China. .
Qin M; Hematology Center, Beijing Key Laboratory of Pediatric Hematology Oncology, National Key Discipline of Pediatrics (Capital Medical University), Key Laboratory of Major Disease in Children, Ministry of Education, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, 100045, China. .; Department of Hematology and Oncology, Beijing Children's Hospital, Capital Medical University, Nanlishi Road No. 56, Xicheng District, Beijing, 100045, China. .
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Źródło:
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2021 Jul 15; Vol. 16 (1), pp. 314. Date of Electronic Publication: 2021 Jul 15.
Typ publikacji:
Journal Article
MeSH Terms:
Graft vs Host Disease*
Hematopoietic Stem Cell Transplantation*
Osteopetrosis*/therapy
Animals ; Child ; Female ; Humans ; Infant ; Male ; Retrospective Studies ; Swine ; Transplantation Conditioning
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Identification of novel mutation in RANKL by whole-exome sequencing in a Thai family with osteopetrosis; a case report and review of RANKL osteopetrosis.
Autorzy:
Lertwilaiwittaya P; Department of Medicine, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand.
Suktitipat B; Department of Biochemistry, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand.; Integrative Computational BioScience Center, Mahidol University, Bangkok, Thailand.
Khongthon P; Research Division, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand.
Pongsapich W; Department of Otorhinolaryngology, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand.
Limwongse C; Department of Medicine, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand.
Pithukpakorn M; Department of Medicine, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand.; Siriraj Center of Research Excellence in Precision Medicine, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand.
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Źródło:
Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2021 Jul; Vol. 9 (7), pp. e1727. Date of Electronic Publication: 2021 May 30.
Typ publikacji:
Case Reports; Journal Article; Research Support, Non-U.S. Gov't; Review
MeSH Terms:
Osteopetrosis/*genetics
RANK Ligand/*genetics
Adolescent ; Adult ; Female ; Homozygote ; Humans ; Male ; Mutation ; Osteopetrosis/pathology ; Pedigree ; Phenotype ; Exome Sequencing
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
CSF1R-dependent macrophages control postnatal somatic growth and organ maturation.
Autorzy:
Keshvari S; Mater Research Institute-University of Queensland, Translational Research Institute, Woolloongabba, Brisbane, Qld, Australia.
Caruso M; Mater Research Institute-University of Queensland, Translational Research Institute, Woolloongabba, Brisbane, Qld, Australia.
Teakle N; Mater Research Institute-University of Queensland, Translational Research Institute, Woolloongabba, Brisbane, Qld, Australia.
Batoon L; Mater Research Institute-University of Queensland, Translational Research Institute, Woolloongabba, Brisbane, Qld, Australia.
Sehgal A; Mater Research Institute-University of Queensland, Translational Research Institute, Woolloongabba, Brisbane, Qld, Australia.
Patkar OL; Mater Research Institute-University of Queensland, Translational Research Institute, Woolloongabba, Brisbane, Qld, Australia.
Ferrari-Cestari M; Mater Research Institute-University of Queensland, Translational Research Institute, Woolloongabba, Brisbane, Qld, Australia.
Snell CE; Mater Research Institute-University of Queensland, Translational Research Institute, Woolloongabba, Brisbane, Qld, Australia.
Chen C; School of Biomedical Sciences, University of Queensland, St Lucia, Qld, Australia.
Stevenson A; Mater Research Institute-University of Queensland, Translational Research Institute, Woolloongabba, Brisbane, Qld, Australia.
Davis FM; Mater Research Institute-University of Queensland, Translational Research Institute, Woolloongabba, Brisbane, Qld, Australia.
Bush SJ; Nuffield Department of Clinical Medicine, John Radcliffe Hospital, University of Oxford, Oxford, United Kingdom.
Pridans C; Centre for Inflammation Research and Simons Initiative for the Developing Brain, Centre for Discovery Brain Sciences, University of Edinburgh, Edinburgh, United Kingdom.
Summers KM; Mater Research Institute-University of Queensland, Translational Research Institute, Woolloongabba, Brisbane, Qld, Australia.
Pettit AR; Mater Research Institute-University of Queensland, Translational Research Institute, Woolloongabba, Brisbane, Qld, Australia.
Irvine KM; Mater Research Institute-University of Queensland, Translational Research Institute, Woolloongabba, Brisbane, Qld, Australia.
Hume DA; Mater Research Institute-University of Queensland, Translational Research Institute, Woolloongabba, Brisbane, Qld, Australia.
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Źródło:
PLoS genetics [PLoS Genet] 2021 Jun 03; Vol. 17 (6), pp. e1009605. Date of Electronic Publication: 2021 Jun 03 (Print Publication: 2021).
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Fatty Liver/*genetics
Macrophages/*metabolism
Musculoskeletal Abnormalities/*genetics
Musculoskeletal Development/*genetics
Osteopetrosis/*genetics
Receptors, Granulocyte-Macrophage Colony-Stimulating Factor/*genetics
Animals ; Bone Marrow/metabolism ; Bone Marrow/pathology ; Bone Marrow Transplantation ; Disease Models, Animal ; Embryo, Mammalian ; Fatty Liver/metabolism ; Fatty Liver/pathology ; Fatty Liver/therapy ; Female ; Gene Expression Regulation, Developmental ; Gene Knockout Techniques ; Genes, Reporter ; Humans ; Insulin-Like Growth Factor Binding Proteins/deficiency ; Insulin-Like Growth Factor Binding Proteins/genetics ; Insulin-Like Growth Factor I/deficiency ; Insulin-Like Growth Factor I/genetics ; Lipid Metabolism ; Liver/metabolism ; Liver/pathology ; Macrophages/pathology ; Male ; Musculoskeletal Abnormalities/metabolism ; Musculoskeletal Abnormalities/pathology ; Musculoskeletal Abnormalities/therapy ; Osteopetrosis/metabolism ; Osteopetrosis/pathology ; Osteopetrosis/therapy ; Rats ; Rats, Transgenic ; Receptors, Granulocyte-Macrophage Colony-Stimulating Factor/deficiency
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
An SNX10-dependent mechanism downregulates fusion between mature osteoclasts.
Autorzy:
Barnea-Zohar M; Department of Molecular Genetics, The Weizmann Institute of Science, Rehovot 76100, Israel.
Winograd-Katz SE; Department of Immunology, The Weizmann Institute of Science, Rehovot 76100, Israel.
Shalev M; Department of Molecular Genetics, The Weizmann Institute of Science, Rehovot 76100, Israel.
Arman E; Department of Molecular Genetics, The Weizmann Institute of Science, Rehovot 76100, Israel.
Reuven N; Department of Molecular Genetics, The Weizmann Institute of Science, Rehovot 76100, Israel.
Roth L; Department of Molecular Genetics, The Weizmann Institute of Science, Rehovot 76100, Israel.
Golani O; Department of Life Sciences Core Facilities, The Weizmann Institute of Science, Rehovot 76100, Israel.
Stein M; Department of Biology, Institute of Comparative Molecular Endocrinology, University of Ulm, 89081 Ulm, Germany.
Thalji F; Department of Orthopedics, Istishari Arab Hospital, Ramallah, Palestine.
Kanaan M; Hereditary Research Laboratory and Department of Life Sciences, Bethlehem University, Bethlehem 0045866, Palestine.
Tuckermann J; Department of Biology, Institute of Comparative Molecular Endocrinology, University of Ulm, 89081 Ulm, Germany.
Geiger B; Department of Immunology, The Weizmann Institute of Science, Rehovot 76100, Israel.
Elson A; Department of Molecular Genetics, The Weizmann Institute of Science, Rehovot 76100, Israel.
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Źródło:
Journal of cell science [J Cell Sci] 2021 May 01; Vol. 134 (9). Date of Electronic Publication: 2021 May 11.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Bone Resorption*/genetics
Osteopetrosis*
Animals ; Mice ; Mutation/genetics ; Osteoclasts ; Sorting Nexins/genetics
Czasopismo naukowe
Pełny tekstSzczegóły
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