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Expanding the mutation and phenotype spectrum of MYH3-associated skeletal disorders

Zhao, Sen (författare)
Department of Orthopedic Surgery, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China; Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Beijing, China,Peking Union Med Coll, Peoples R China; Chinese Acad Med Sci, Peoples R China; Beijing Key Lab Genet Res Skeletal Deform, Peoples R China
Zhang, Yuanqiang (författare)
Department of Orthopedic Surgery, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China; Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Beijing, China; Department of Orthopaedic Surgery, Qilu Hospital, Cheeloo College of Medicine, Shandong University, Jinan, Shandong, China,Peking Union Med Coll, Peoples R China; Chinese Acad Med Sci, Peoples R China; Beijing Key Lab Genet Res Skeletal Deform, Peoples R China; Shandong Univ, Peoples R China
Hallgrimsdottir, Sigrun (författare)
Division of Pediatric Endocrinology and Center for Molecular Medicine, Department of Women's and Children's Health, Karolinska Institutet and University Hospital, Stockholm, Sweden,Karolinska Inst, Sweden; Karolinska Inst, Sweden; Univ Hosp, Sweden
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Zuo, Yuzhi (författare)
Department of Orthopedic Surgery, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China; Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Beijing, China,Peking Union Med Coll, Peoples R China; Chinese Acad Med Sci, Peoples R China; Beijing Key Lab Genet Res Skeletal Deform, Peoples R China
Li, Xiaoxin (författare)
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Beijing, China; Key laboratory of big data for spinal deformities, Chinese Academy of Medical Sciences, Beijing, China,Beijing Key Lab Genet Res Skeletal Deform, Peoples R China; Chinese Acad Med Sci, Peoples R China
Batkovskyte, Dominyka (författare)
Karolinska Institutet
Liu, Sen (författare)
Department of Orthopedic Surgery, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China; Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Beijing, China,Peking Union Med Coll, Peoples R China; Chinese Acad Med Sci, Peoples R China; Beijing Key Lab Genet Res Skeletal Deform, Peoples R China
Lindelöf, Hillevi (författare)
Karolinska Institutet
Wang, Shengru (författare)
Department of Orthopedic Surgery, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China,Peking Union Med Coll, Peoples R China; Chinese Acad Med Sci, Peoples R China
Hammarsjö, Anna (författare)
Karolinska Institutet
Yang, Yang (författare)
Department of Orthopedic Surgery, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China,Peking Union Med Coll, Peoples R China; Chinese Acad Med Sci, Peoples R China; Beijing Key Lab Genet Res Skeletal Deform, Peoples R China; Shandong Univ, Peoples R China
Ye, Yongyu (författare)
Department of Joint Surgery, First Affiliated Hospital of Sun Yat-sen University, Guangzhou, China,Sun Yat Sen Univ, Peoples R China
Wang, Lianlei (författare)
Department of Orthopedic Surgery, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China; Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Beijing, China; Department of Orthopaedic Surgery, Qilu Hospital, Cheeloo College of Medicine, Shandong University, Jinan, Shandong, China
Yan, Zihui (författare)
Department of Orthopedic Surgery, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China; Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Beijing, China
Lin, Jiachen (författare)
Department of Orthopedic Surgery, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China; Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Beijing, China,Peking Union Med Coll, Peoples R China; Chinese Acad Med Sci, Peoples R China; Beijing Key Lab Genet Res Skeletal Deform, Peoples R China
Yu, Chenxi (författare)
Department of Orthopedic Surgery, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China; Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Beijing, China,Peking Union Med Coll, Peoples R China; Chinese Acad Med Sci, Peoples R China; Beijing Key Lab Genet Res Skeletal Deform, Peoples R China
Chen, Zefu (författare)
Department of Orthopedic Surgery, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China; Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Beijing, China,Peking Union Med Coll, Peoples R China; Chinese Acad Med Sci, Peoples R China; Beijing Key Lab Genet Res Skeletal Deform, Peoples R China
Niu, Yuchen (författare)
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Beijing, China; Key laboratory of big data for spinal deformities, Chinese Academy of Medical Sciences, Beijing, China,Beijing Key Lab Genet Res Skeletal Deform, Peoples R China; Chinese Acad Med Sci, Peoples R China
Wang, Huizi (författare)
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Beijing, China; Key laboratory of big data for spinal deformities, Chinese Academy of Medical Sciences, Beijing, China
Zhao, Zhi (författare)
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Beijing, China; Key laboratory of big data for spinal deformities, Chinese Academy of Medical Sciences, Beijing, China,Beijing Key Lab Genet Res Skeletal Deform, Peoples R China; Chinese Acad Med Sci, Peoples R China
Liu, Pengfei (författare)
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Baylor Genetics, Houston, TX, USA,Baylor Coll Med, TX 77030 USA; Baylor Genet, TX 77021 USA
Qiu, Guixing (författare)
Department of Orthopedic Surgery, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China; Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Beijing, China; Key laboratory of big data for spinal deformities, Chinese Academy of Medical Sciences, Beijing, China,Peking Union Med Coll, Peoples R China; Chinese Acad Med Sci, Peoples R China; Beijing Key Lab Genet Res Skeletal Deform, Peoples R China; Chinese Acad Med Sci, Peoples R China
Posey, Jennifer E. (författare)
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA,Baylor Coll Med, TX 77030 USA
Wu, Zhihong (författare)
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Beijing, China; Key laboratory of big data for spinal deformities, Chinese Academy of Medical Sciences, Beijing, China,Beijing Key Lab Genet Res Skeletal Deform, Peoples R China; Chinese Acad Med Sci, Peoples R China
Lupski, James R. (författare)
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Departments of Pediatrics, Texas Children's Hospital and Baylor College of Medicine, Houston, TX, USA; Texas Children's Hospital, Houston, TX, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA,Baylor Coll Med, TX 77030 USA; Texas Childrens Hosp, TX 77030 USA; Baylor Coll Med, TX 77030 USA; Texas Childrens Hosp, TX 77030 USA; Baylor Coll Med, TX 77030 USA
Micule, Ieva (författare)
Clinic of Medical Genetics and Prenatal Diagnostics, Children's Clinical University Hospital, Riga, Latvia,Childrens Clin Univ Hosp, Latvia
Anderlid, Britt-Marie (författare)
Karolinska Institutet
Voss, Ulrika (författare)
Department of Pediatric Radiology, Karolinska University Hospital, Stockholm, Sweden,Karolinska Univ Hosp, Sweden
Sulander, Dennis (författare)
Linköpings universitet,Avdelningen för cellbiologi,Medicinska fakulteten,Region Östergötland, Klinisk genetik
Kuchinskaya, Ekaterina (författare)
Linköpings universitet,Avdelningen för cellbiologi,Medicinska fakulteten,Region Östergötland, Klinisk genetik
Nordgren, Ann (författare)
Karolinska Institutet
Nilsson, Ola, 1970- (författare)
Karolinska Institutet,Örebro universitet,Institutionen för medicinska vetenskaper,Division of Pediatric Endocrinology and Center for Molecular Medicine, Department of Women's and Children's Health, Karolinska Institutet and University Hospital, Stockholm, Sweden; Department of Pediatrics, Örebro University Hospital, Örebro, Sweden,Karolinska Inst, Sweden; Karolinska Inst, Sweden; Univ Hosp, Sweden; Orebro Univ, Sweden; Orebro Univ Hosp, Sweden
Zhang, Terry Jianguo (författare)
Department of Orthopedic Surgery, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China; Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Beijing, China; Key laboratory of big data for spinal deformities, Chinese Academy of Medical Sciences, Beijing, China,Peking Union Med Coll, Peoples R China; Chinese Acad Med Sci, Peoples R China; Beijing Key Lab Genet Res Skeletal Deform, Peoples R China; Chinese Acad Med Sci, Peoples R China
Grigelioniene, Giedre (författare)
Karolinska Institutet
Wu, Nan (författare)
Department of Orthopedic Surgery, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China; Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Beijing, China; Key laboratory of big data for spinal deformities, Chinese Academy of Medical Sciences, Beijing, China; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA,Peking Union Med Coll, Peoples R China; Chinese Acad Med Sci, Peoples R China; Beijing Key Lab Genet Res Skeletal Deform, Peoples R China; Chinese Acad Med Sci, Peoples R China; Baylor Coll Med, TX 77030 USA
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 (creator_code:org_t)
2022-02-15
2022
Engelska.
Ingår i: NPJ genomic medicine. - : Nature Publishing Group. - 2056-7944. ; 7:1
Relaterad länk:
https://doi.org/10.1...
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https://www.nature.c...
https://liu.diva-por... (primary) (Raw object)
https://urn.kb.se/re...
https://doi.org/10.1...
https://urn.kb.se/re...
http://kipublication...
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  • Tidskriftsartikel (refereegranskat)
Abstract Ämnesord
Stäng  
  • Pathogenic variants in MYH3 cause distal arthrogryposis type 2A and type 2B3 as well as contractures, pterygia and spondylocarpotarsal fusion syndromes types 1A and 1B. These disorders are ultra-rare and their natural course and phenotypic variability are not well described. In this study, we summarize the clinical features and genetic findings of 17 patients from 10 unrelated families with vertebral malformations caused by dominant or recessive pathogenic variants in MYH3. Twelve novel pathogenic variants in MYH3 (NM_002470.4) were identified: three of them were de novo or inherited in autosomal dominant way and nine were inherited in autosomal recessive way. The patients had vertebral segmentation anomalies accompanied with variable joint contractures, short stature and dysmorphic facial features. There was a significant phenotypic overlap between dominant and recessive MYH3-associated conditions regarding the degree of short stature as well as the number of vertebral fusions. All monoallelic variants caused significantly decreased SMAD3 phosphorylation, which is consistent with the previously proposed pathogenic mechanism of impaired canonical TGF-β signaling. Most of the biallelic variants were predicted to be protein-truncating, while one missense variant c.4244T>G,p.(Leu1415Arg), which was inherited in an autosomal recessive way, was found to alter the phosphorylation level of p38, suggesting an inhibition of the non-canonical pathway of TGF-β signaling. In conclusion, the identification of 12 novel pathogenic variants and overlapping phenotypes in 17 affected individuals from 10 unrelated families expands the mutation and phenotype spectrum of MYH3-associated skeletal disorders. We show that disturbances of canonical or non-canonical TGF-β signaling pathways are involved in pathogenesis of MYH3-associated skeletal fusion (MASF) syndrome.

Ämnesord

MEDICIN OCH HÄLSOVETENSKAP  -- Medicinska och farmaceutiska grundvetenskaper -- Medicinsk genetik (hsv//swe)
MEDICAL AND HEALTH SCIENCES  -- Basic Medicine -- Medical Genetics (hsv//eng)

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