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Homozygous Null TBX...
Homozygous Null TBX4 Mutations Lead to Posterior Amelia with Pelvic and Pulmonary Hypoplasia
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- Kariminejad, Ariana (författare)
- Kariminejad-Najmabadi Pathology and Genetics Center, Tehran, Iran
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- Szenker-Ravi, Emmanuelle (författare)
- Institute of Medical Biology, Agency for Science, Technology, and Research, Singapore, Republic of Singapore
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- Lekszas, Caroline (författare)
- Institute of Human Genetics, Julius-Maximilians-Universität, Würzburg, Germany
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- Tajsharghi, Homa (författare)
- Högskolan i Skövde,Institutionen för hälsa och lärande,Forskningsspecialiseringen Hälsa och Lärande,Translational Medicine TRIM
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- Moslemi, Ali-Reza (författare)
- Gothenburg University,Göteborgs universitet,Institutionen för biomedicin,Institute of Biomedicine
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- Naert, Thomas (författare)
- Department of Biomedical Molecular Biology, Ghent University, Belgium
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- Tran, Hong Thi (författare)
- Department of Biomedical Molecular Biology, Ghent University, Belgium
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- Ahangari, Fatemeh (författare)
- Kariminejad-Najmabadi Pathology and Genetics Center, Tehra, Iran
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- Rajaei, Minoo (författare)
- Fertility and Infertility Research Center, Hormozgan University of Medical Sciences, Bandar Abbas, Iran
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- Nasseri, Mojila (författare)
- Pardis Clinical and Genetics Laboratory, Mashhad, Iran
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- Haaf, Thomas (författare)
- Institute of Human Genetics, Julius-Maximilians-Universität, Würzburg, Germany
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- Azad, Afrooz (författare)
- Fertility and Infertility Research Center, Hormozgan University of Medical Sciences, Bandar Abbas, Iran
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- Superti-Furga, Andrea (författare)
- Division of Genetic Medicine, Lausanne University Hospital (CHUV), University of Lausanne, Switzerland
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- Maroofian, Reza (författare)
- Molecular and Clinical Sciences Institute, St. George’s University of London, UK
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- Ghaderi-Sohi, Siavash (författare)
- Kariminejad-Najmabadi Pathology and Genetics Center, Tehran Iran
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- Najmabadi, Hossein (författare)
- Kariminejad-Najmabadi Pathology and Genetics Center, Tehran Iran / Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran
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- Abbaszadegan, Mohammad Reza (författare)
- Pardis Clinical and Genetics Laboratory, Mashhad, Iran / Division of Human Genetics, Immunology Research Center, Avicenna Research Institute, Mashhad University of Medical Sciences, Mashhad, Iran
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- Vleminckx, Kris (författare)
- Department of Biomedical Molecular Biology, Ghent University, Belgium
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- Nikuei, Pooneh (författare)
- Fertility and Infertility Research Center, Hormozgan University of Medical Sciences, Bandar Abbas, Iran
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- Reversade, Bruno (författare)
- Institute of Medical Biology, Agency for Science, Technology, and Research, Singapore, Republic of Singapore / Institute of Molecular and Cell Biology, Agency for Science, Technology, and Research, Singapore, Republic of Singapore / Department of Medical Genetics, Koç University, School of Medicine, Topkapı, Istanbul, Turkey
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(creator_code:org_t)
- Elsevier, 2019
- 2019
- Engelska.
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Ingår i: American Journal of Human Genetics. - : Elsevier. - 0002-9297 .- 1537-6605. ; 105:6, s. 1294-1301
- Relaterad länk:
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http://www.cell.com/...
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https://urn.kb.se/re...
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https://doi.org/10.1...
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https://gup.ub.gu.se...
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Abstract
Ämnesord
Stäng
- The development of hindlimbs in tetrapod species relies specifically on the transcription factor TBX4. In humans, heterozygous loss-of-function TBX4 mutations cause dominant small patella syndrome (SPS) due to haploinsufficiency. Here, we characterize a striking clinical entity in four fetuses with complete posterior amelia with pelvis and pulmonary hypoplasia (PAPPA). Through exome sequencing, we find that PAPPA syndrome is caused by homozygous TBX4 inactivating mutations during embryogenesis in humans. In two consanguineous couples, we uncover distinct germline TBX4 coding mutations, p.Tyr113∗ and p.Tyr127Asn, that segregated with SPS in heterozygous parents and with posterior amelia with pelvis and pulmonary hypoplasia syndrome (PAPPAS) in one available homozygous fetus. A complete absence of TBX4 transcripts in this proband with biallelic p.Tyr113∗ stop-gain mutations revealed nonsense-mediated decay of the endogenous mRNA. CRISPR/Cas9-mediated TBX4 deletion in Xenopus embryos confirmed its restricted role during leg development. We conclude that SPS and PAPPAS are allelic diseases of TBX4 deficiency and that TBX4 is an essential transcription factor for organogenesis of the lungs, pelvis, and hindlimbs in humans.
Ämnesord
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Medicinsk genetik (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Medical Genetics (hsv//eng)
Nyckelord
- PAPPAS
- SPS
- TBX4
- Xenopus
- allelic diseases
- animal models
- hindlimb amelia
- lung and pelvis hypoplasia
- semi-dominant
- small patella syndrome
- Translationell medicin TRIM
- Translational Medicine TRIM
- t-box genes
- small patella syndrome
- holt-oram-syndrome
- limb
- dysplasia
- initiation
- evolution
- identity
- genome
- Genetics & Heredity
Publikations- och innehållstyp
- ref (ämneskategori)
- art (ämneskategori)
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Kariminejad, Ari ...
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Szenker-Ravi, Em ...
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Lekszas, Carolin ...
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Tajsharghi, Homa
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Moslemi, Ali-Rez ...
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Naert, Thomas
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Tran, Hong Thi
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Ahangari, Fateme ...
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Rajaei, Minoo
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Nasseri, Mojila
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Haaf, Thomas
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Azad, Afrooz
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Superti-Furga, A ...
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Maroofian, Reza
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Ghaderi-Sohi, Si ...
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Najmabadi, Hosse ...
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Abbaszadegan, Mo ...
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Vleminckx, Kris
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Nikuei, Pooneh
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Reversade, Bruno
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Högskolan i Skövde
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Göteborgs universitet