| 1. |
- Kariminejad, Ariana, et al.
(författare)
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Homozygous Null TBX4 Mutations Lead to Posterior Amelia with Pelvic and Pulmonary Hypoplasia
- 2019
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Ingår i: American Journal of Human Genetics. - : Elsevier. - 0002-9297 .- 1537-6605. ; 105:6, s. 1294-1301
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Tidskriftsartikel (refereegranskat)abstract
- 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.
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| 2. |
- Klinge, Björn, et al.
(författare)
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Peri-implant tissue destruction : The Third EAO Consensus Conference 2012
- 2012
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Ingår i: Clinical Oral Implants Research. - : John Wiley & Sons. - 0905-7161 .- 1600-0501. ; 23:Suppl 6, s. 108-110
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Tidskriftsartikel (refereegranskat)abstract
- OBJECTIVE: The task of this working group was to update the existing knowledge base regarding the prevalence of peri-implant tissue destruction, the role of occlusal overload, and the outcome of non-surgical and surgical treatment.MATERIALS AND METHODS: The literature was systematically searched and critically reviewed. Four manuscripts were presented in key areas deemed to be essential for the current understanding of the magnitude of the clinical entity peri-implantitis. The role of overload as an etiological component was reviewed. Also available data on the results from non-surgical and surgical interventions for the control of tissue destruction were presented.RESULTS: The consensus statements following plenary session approval, clinical implications, and directions for future research based on the group discussions are presented in this article. The results and conclusions of the systematic review process are presented by the respective authors in the subsequent papers.
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| 3. |
- Klinge, Björn, et al.
(författare)
-
Peri-implant tissue destruction : The Third EAO Consensus Conference 2012
- 2012
-
Ingår i: Clinical Oral Implants Research. - : Blackwell Munksgaard. - 0905-7161 .- 1600-0501. ; 23:Suppl 6, s. 108-110
-
Tidskriftsartikel (refereegranskat)abstract
- OBJECTIVE: The task of this working group was to update the existing knowledge base regarding the prevalence of peri-implant tissue destruction, the role of occlusal overload, and the outcome of non-surgical and surgical treatment. MATERIALS AND METHODS: The literature was systematically searched and critically reviewed. Four manuscripts were presented in key areas deemed to be essential for the current understanding of the magnitude of the clinical entity peri-implantitis. The role of overload as an etiological component was reviewed. Also available data on the results from non-surgical and surgical interventions for the control of tissue destruction were presented. RESULTS: The consensus statements following plenary session approval, clinical implications, and directions for future research based on the group discussions are presented in this article. The results and conclusions of the systematic review process are presented by the respective authors in the subsequent papers.
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