Temat: "Limb Deformities, Congenital" - OpacWWW

Skocz do pozycji: 1.

Tytuł:: ROR2-Related Skeletal Dysplasia Reveals Disrupted Chondrocyte Polarity through Modulation of BMP/TGF-β Signaling.
Autorzy:: Yao Y; Hospital of Stomatology, Guanghua School of Stomatology, Sun Yat-sen University, China.; Guangdong Provincial Key Laboratory of Stomatology, Guangzhou, China.
Wang X; Department of Medicine, Harvard Medical School, Boston, MA, USA.; Jeff and Penny Vinik Center for Translational Immunology Research, Division of Allergy and Clinical Immunology, Brigham and Women's Hospital, Boston, MA, USA.
Lin L; Hospital of Stomatology, Guanghua School of Stomatology, Sun Yat-sen University, China.; Guangdong Provincial Key Laboratory of Stomatology, Guangzhou, China.
Zhang X; Department of Stomatology, the Eighth Affiliated Hospital, Sun Yat-sen University, Shen Zhen, Guangdong, China.
Wang Y; Hospital of Stomatology, Guanghua School of Stomatology, Sun Yat-sen University, China.; Guangdong Provincial Key Laboratory of Stomatology, Guangzhou, China.; Pokaż więcej
Źródło:: Aging and disease [Aging Dis] 2024 Feb 01; Vol. 15 (1), pp. 282-294. Date of Electronic Publication: 2024 Feb 01.
Typ publikacji:: Journal Article
MeSH Terms:: Chondrocytes*
Osteogenesis*/genetics
Dwarfism*
Urogenital Abnormalities*
Limb Deformities, Congenital*
Craniofacial Abnormalities*
Mice ; Animals ; Cell Differentiation/genetics ; Osteoblasts ; Transforming Growth Factor beta/metabolism
SCR Disease Name:: Robinow Syndrome

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Skocz do pozycji: 2.

Tytuł:: A novel frameshift mutation of DVL1-induced Robinow syndrome: A case report and literature review.
Autorzy:: Hu R; Key Laboratory of Birth Defects and Related Diseases of Women and Children of MOE, Department of Pediatrics, West China Second University Hospital, Sichuan University, Chengdu, China.
Qiu Y; Key Laboratory of Birth Defects and Related Diseases of Women and Children of MOE, Department of Pediatrics, West China Second University Hospital, Sichuan University, Chengdu, China.
Li Y; Key Laboratory of Birth Defects and Related Diseases of Women and Children of MOE, Department of Pediatrics, West China Second University Hospital, Sichuan University, Chengdu, China.
Li J; Key Laboratory of Birth Defects and Related Diseases of Women and Children of MOE, Department of Pediatrics, West China Second University Hospital, Sichuan University, Chengdu, China.; Pokaż więcej
Źródło:: Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2022 Mar; Vol. 10 (3), pp. e1886. Date of Electronic Publication: 2022 Feb 09.
Typ publikacji:: Case Reports; Journal Article; Research Support, Non-U.S. Gov't; Review
MeSH Terms:: Dwarfism*/diagnosis
Dwarfism*/genetics
Limb Deformities, Congenital*/diagnosis
Limb Deformities, Congenital*/genetics
Child ; Craniofacial Abnormalities ; Dishevelled Proteins/genetics ; Female ; Frameshift Mutation ; Humans ; Infant ; Male ; Urogenital Abnormalities
SCR Disease Name:: Robinow Syndrome

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Skocz do pozycji: 3.

Tytuł:: Whole genome variant association across 100 dogs identifies a frame shift mutation in DISHEVELLED 2 which contributes to Robinow-like syndrome in Bulldogs and related screw tail dog breeds.
Autorzy:: Mansour TA; Department of Population Health and Reproduction, School of Veterinary Medicine, University of California Davis, Davis, CA, United States of America.; Department of Clinical Pathology, School of Medicine, University of Mansoura, Mansoura Egypt.
Lucot K; Department of Population Health and Reproduction, School of Veterinary Medicine, University of California Davis, Davis, CA, United States of America.; Integrative Genetics and Genomics Graduate Group, University of California Davis, Davis, CA, United States of America.
Konopelski SE; Department of Cell Biology and Human Anatomy, School of Medicine, University of California Davis, Davis, CA, United States of America.
Dickinson PJ; Department of Surgical and Radiological Sciences, School of Veterinary Medicine, University of California Davis, Davis, CA, United States of America.
Sturges BK; Department of Surgical and Radiological Sciences, School of Veterinary Medicine, University of California Davis, Davis, CA, United States of America.
Vernau KL; Department of Surgical and Radiological Sciences, School of Veterinary Medicine, University of California Davis, Davis, CA, United States of America.
Choi S; Department of Cell Biology and Human Anatomy, School of Medicine, University of California Davis, Davis, CA, United States of America.
Stern JA; Department of Medicine and Epidemiology, School of Veterinary Medicine, University of California Davis, Davis, CA, United States of America.
Thomasy SM; Department of Surgical and Radiological Sciences, School of Veterinary Medicine, University of California Davis, Davis, CA, United States of America.
Döring S; William R. Pritchard Veterinary Medical Teaching Hospital, School of Veterinary Medicine, University of California Davis, Davis, CA, United States of America.
Verstraete FJM; Department of Surgical and Radiological Sciences, School of Veterinary Medicine, University of California Davis, Davis, CA, United States of America.
Johnson EG; Department of Surgical and Radiological Sciences, School of Veterinary Medicine, University of California Davis, Davis, CA, United States of America.
York D; Department of Surgical and Radiological Sciences, School of Veterinary Medicine, University of California Davis, Davis, CA, United States of America.
Rebhun RB; Department of Surgical and Radiological Sciences, School of Veterinary Medicine, University of California Davis, Davis, CA, United States of America.
Ho HH; Department of Cell Biology and Human Anatomy, School of Medicine, University of California Davis, Davis, CA, United States of America.
Brown CT; Department of Population Health and Reproduction, School of Veterinary Medicine, University of California Davis, Davis, CA, United States of America.; Genome Center, University of California Davis, Davis, CA, United States of America.
Bannasch DL; Department of Population Health and Reproduction, School of Veterinary Medicine, University of California Davis, Davis, CA, United States of America.; Genome Center, University of California Davis, Davis, CA, United States of America.; Pokaż więcej
Źródło:: PLoS genetics [PLoS Genet] 2018 Dec 06; Vol. 14 (12), pp. e1007850. Date of Electronic Publication: 2018 Dec 06 (Print Publication: 2018).
Typ publikacji:: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms:: Craniofacial Abnormalities/*veterinary
Dishevelled Proteins/*genetics
Dog Diseases/*genetics
Dogs/*genetics
Dwarfism/*veterinary
Limb Deformities, Congenital/*veterinary
Urogenital Abnormalities/*veterinary
Amino Acid Sequence ; Animals ; Craniofacial Abnormalities/genetics ; Craniofacial Abnormalities/metabolism ; Dishevelled Proteins/metabolism ; Dog Diseases/metabolism ; Dogs/anatomy & histology ; Dogs/classification ; Dwarfism/genetics ; Dwarfism/metabolism ; Female ; Frameshift Mutation ; Genetic Variation ; Genome-Wide Association Study ; Humans ; Limb Deformities, Congenital/genetics ; Limb Deformities, Congenital/metabolism ; Male ; Organosilicon Compounds ; Sequence Homology, Amino Acid ; Species Specificity ; Tail/anatomy & histology ; Urogenital Abnormalities/genetics ; Urogenital Abnormalities/metabolism ; Wnt Signaling Pathway/genetics
SCR Disease Name:: Robinow Syndrome

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Skocz do pozycji: 4.

Tytuł:: Evaluation of Efficacy of Long-term Growth Hormone Therapy in Patients with Hypochondroplasia
Autorzy:: Çetin T; Ankara University Faculty of Medicine, Department of Pediatric Endocrinology, Ankara, Turkey
Şıklar Z; Ankara University Faculty of Medicine, Department of Pediatric Endocrinology, Ankara, Turkey
Kocaay P; Ankara University Faculty of Medicine, Department of Pediatric Endocrinology, Ankara, Turkey
Berberoğlu M; Ankara University Faculty of Medicine, Department of Pediatric Endocrinology, Ankara, Turkey; Pokaż więcej
Źródło:: Journal of clinical research in pediatric endocrinology [J Clin Res Pediatr Endocrinol] 2018 Nov 29; Vol. 10 (4), pp. 373-376. Date of Electronic Publication: 2018 May 09.
Typ publikacji:: Journal Article
MeSH Terms:: Body Height/*drug effects
Bone and Bones/*abnormalities
Dwarfism/*drug therapy
Human Growth Hormone/*therapeutic use
Limb Deformities, Congenital/*drug therapy
Lordosis/*drug therapy
Child ; Child, Preschool ; Female ; Growth Disorders/drug therapy ; Humans ; Male ; Time Factors ; Treatment Outcome
SCR Disease Name:: Hypochondroplasia