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Journal of Biological Chemistry, ISSN 0021-9258, 06/2011, Volume 286, Issue 22, pp. 19489 - 19500
Journal Article
by Tang, Y and Wu, XW and Lei, WQ and Pang, LJ and Wan, C and Shi, ZQ and Zhao, L and Nagy, TR and Peng, XY and Hu, JB and Feng, X and Van Hul, W and Wan, M and Cao, X
NATURE MEDICINE, ISSN 1078-8956, 07/2009, Volume 15, Issue 7, pp. 757 - U9
Bone remodeling depends on the precise coordination of bone resorption and subsequent bone formation. Disturbances of this process are associated with skeletal... 
MEDICINE, RESEARCH & EXPERIMENTAL | DOMAIN-SPECIFIC MUTATIONS | TGF-BETA | DIFFERENT POPULATIONS | BIOCHEMISTRY & MOLECULAR BIOLOGY | CELL BIOLOGY | SIGNAL-TRANSDUCTION | GROWTH-FACTOR-BETA | CAMURATI-ENGELMANN-DISEASE | LATENCY-ASSOCIATED PEPTIDE | TRANSFORMING GROWTH-FACTOR-BETA-1 | OSTEOGENESIS IMPERFECTA | MICE
Journal Article
Endocrinology, ISSN 0013-7227, 06/2007, Volume 148, Issue 6, pp. 2622 - 2629
A few years ago, human genetic studies provided compelling evidence that the low-density lipoprotein receptor-related protein 5 (LRP5) is involved in the... 
MINERAL DENSITY | OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME | ENDOCRINOLOGY & METABOLISM | RECEPTOR-RELATED PROTEIN-5 | IDIOPATHIC OSTEOPOROSIS | OSTEOGENESIS IMPERFECTA | LDL-RECEPTOR-RELATED-PROTEIN-5 LRP5 GENE | CHROMOSOME 11Q12-13 | VAN-BUCHEM-DISEASE | MISSENSE MUTATIONS | CHINESE WOMEN
Journal Article
Journal Article
CALCIFIED TISSUE INTERNATIONAL, ISSN 0171-967X, 06/2019, Volume 104, Issue 6, pp. 613 - 621
Paget's disease of bone (PDB) is a common, late-onset bone disorder characterized by focal increase of bone turnover. Mutations in the SQSTM1 gene are found in... 
DOMAIN | VARIANTS | Pathogenesis | SUSCEPTIBILITY LOCI | ENDOCRINOLOGY & METABOLISM | RIN3 | MUTATIONS | Targeted sequencing | Molecular inversion probes | Modifier | PROTEIN FUNCTION | Paget's disease of bone | GENOME-WIDE ASSOCIATION
Journal Article
Journal of Clinical Endocrinology and Metabolism, ISSN 0021-972X, 05/2017, Volume 102, Issue 5, pp. 1750 - 1756
Journal Article
Journal of Family Planning and Reproductive Health Care, ISSN 0017-5749, 01/1988, Volume 29, Issue 1, p. 5
We have previously shown a duplication in 17p11.2 with probe pVAW409R3 (D17S122) in 12 families with hereditary motor and sensory neuropathy type I (HMSN I) or... 
Journal Article
In Practice, ISSN 0022-2593, 02/2005, Volume 39, Issue 2, p. 91
Background: Lateral ligament ankle sprains are the single most common sports injury. Objective: To determine the functional outcome of the ankle joint after a... 
Journal Article
HUMAN MOLECULAR GENETICS, ISSN 0964-6906, 12/2001, Volume 10, Issue 25, pp. 2861 - 2867
Albers-Schonberg disease, or autosomal dominant osteopetrosis, type II (ADO II), is the most common form of osteopetrosis, a group of conditions characterized... 
HETEROGENEITY | MYOTONIA | LOCALIZATION | BIOCHEMISTRY & MOLECULAR BIOLOGY | GENETICS & HEREDITY | RECESSIVE OSTEOPETROSIS | CLC CHLORIDE CHANNEL | SUBUNIT | FAMILY
Journal Article
by Estrada Gil, Karol and Styrkarsdottir, Unnur and Evangelou, Evangelos and Hsu, Yi-Hsiang and Duncan, Emma and Ntzani, Evangelia and Oei, Ling and Albagha, Omar M and Amin, Najaf and Kemp, John and Koller, Daniel and Li, Guo and Liu, Ching-Ti and Minster, Ryan and Moayyeri, Alireza and Vandenput, Liesbeth and Willner, Dana and Xiao, Su-Mei and Yerges-Armstrong, Laura and Zheng, Hou-Feng and Alonso, Nerea and Eriksson, Joel and Kammerer, Candace and Kaptoge, Stephen and Leo, Paul and Thorleifsson, Gudmar and Wilson, Scott and Wilson, James and Aalto, Ville and Alen, Theo and Aragaki, Aaron and Aspelund, Thor and Center, Jacqueline and Dailiana, Zoe and Duggan, C and Garcia, Melissa and Garcia-Giralt, Natàlia and Giroux, Sylvie and Hallmans, Göran and Hocking, Lynne and Husted, Lise Bjerre and Jameson, Karen and Khusainova, Rita and Kim, Ghi Su and Kooperberg, Charles and Koromila, Theodora and Kruk, Marcin and Laaksonen, Marika and LaCroix, Anea and Lee, Seung and Leung, Ping and Lewis, Joshua and Masi, Laura and Mencej-Beac, Simona and Nguyen, Tuan and Nogues, Xavier and Patel, Millan and Prezelj, Janez and Rose, Lynda and Scollen, Serena and Siggeirsdottir, Kristin and Smith, G.D and Svensson, Olle and Trompet, Stella and Trummer, Olivia and Schoor, Natasja and Woo, Margaret M and Zhu, Kun and Balcells, Susana and Brandi, M.L and Buckley, Brendan M and Cheng, Sulin and Christiansen, C and Cooper, Charles and Dedoussis, George and Ford, Ian and Frost, Morten and Goltzman, David and González-Macías, Jesús and Kähönen, Mika and Karlsson, Magnus and Khusnutdinova, Elza and Koh, Jung-Min and Kollia, Panagoula and Langdahl, Bente and Leslie, William and Lips, Paul and Ljunggren, Östen and Lorenc, Roman and Marc, Janja and Mellström, Dan and Obermayer-Pietsch, Barbara and Olmos, David and Pettersson-Kymmer, Ulrika and Reid, David and Riancho, José and Ridker, Paul and Rousseau, Francois and Lagboom, P Eline and Tang, Nelson L and ... and Medicinska fakulteten and Umeå universitet and Institutionen för folkhälsa och klinisk medicin and Institutionen för farmakologi och klinisk neurovetenskap and Klinisk farmakologi and Näringsforskning and Institutionen för kirurgisk och perioperativ vetenskap
Nature Genetics, ISSN 1061-4036, 05/2012, Volume 44, Issue 5, pp. 491 - 501
textabstractBone mineral density (BMD) is the most widely used predictor of fracture risk. We performed the largest meta-analysis to date on lumbar spine and... 
WOMEN | POPULATION | IMPUTATION | VARIANTS | DISEASE | GENETICS & HEREDITY | OSTEOPOROTIC FRACTURES | GENE-EXPRESSION | LRP5 | PATTERNS | IMPUTED DATA | Glycoproteins - genetics | Genetic Predisposition to Disease | Genome-Wide Association Study | Low Density Lipoprotein Receptor-Related Protein-5 - genetics | Extracellular Matrix Proteins - genetics | Humans | Risk Factors | Computational Biology | Intercellular Signaling Peptides and Proteins - genetics | European Continental Ancestry Group | Genotype | Male | Bone Density - genetics | Gene Expression Profiling | Phosphoproteins - genetics | Fractures, Bone - genetics | Mitochondrial Membrane Transport Proteins - genetics | Polymorphism, Single Nucleotide - genetics | Female | Femur Neck - physiopathology | Osteoporosis - genetics | Spectrin - genetics | Quantitative Trait Loci | Lumbar Vertebrae - physiopathology | Quantitative trait loci | Measurement | Fractures | Bones | Genetic aspects | Identification and classification | Density | Risk factors | Medical research | Osteoporosis | Genomics | Bone density | Gene loci | Index Medicus | Vèrtebres lumbars | Gens | Femur | Genes | Bone densitometry | Densitometria òssia | Fèmur | Lumbar vertebrae | Basic Medicine | Medical Genetics | Medicinsk genetik | ortopedi | Medical and Health Sciences | Medicin och hälsovetenskap | Medicinska och farmaceutiska grundvetenskaper | genetik | Genetics | Orthopaedics
Journal Article
Biomedical Papers, ISSN 1213-8118, 2016, Volume 160, Issue 3, pp. 442 - 447
Background and Aim. Osteogenesis innperfecta (OI), also called brittle bone disease, is a clinically and genetically heterogeneous disorder characterized by... 
COL1A1 | Osteogenesis imperfecta | Mutations