LIVIVO - Search results -

Search results

Result 1 - 10 of total 43

Search options

Article ; Online: The incredible ULK improves β-thalassemia.

Babbs, Christian

2023 Volume 142, Issue 10, Page(s) 862–863

MeSH term(s)	Humans ; beta-Thalassemia/genetics ; beta-Thalassemia/therapy ; Physical Therapy Modalities ; MicroRNAs ; Autophagy-Related Protein-1 Homolog ; Intracellular Signaling Peptides and Proteins
Chemical Substances	MicroRNAs ; ULK1 protein, human (EC 2.7.11.1) ; Autophagy-Related Protein-1 Homolog (EC 2.7.11.1) ; Intracellular Signaling Peptides and Proteins ; MIRN144 microRNA, human
Language	English
Publishing date	2023-09-05
Publishing country	United States
Document type	Editorial ; Comment
ZDB-ID	80069-7
ISSN	1528-0020 ; 0006-4971
ISSN (online)	1528-0020
ISSN	0006-4971
DOI	10.1182/blood.2023021369
Database	MEDical Literature Analysis and Retrieval System OnLINE

In stock of ZB MED Cologne/Königswinter

Uh III Zs.140: Show issues			Location: Je nach Verfügbarkeit (siehe Angabe bei Bestand) bis Jg. 2021: Bestellungen von Artikeln über das Online-Bestellformular ab Jg. 2022: Lesesaal (EG)
Zs.MO 364: Show issues

Order via subito

This service is chargeable due to the Delivery terms set by subito. Orders including an article and supplementary material will be classified as separate orders. In these cases, fees will be demanded for each order.

Details ▾
- See ZB MED holdings
- Order with fees

Article ; Online: Haemoglobin Bart's Hydrops Fetalis: Charting the Past and Envisioning the Future.

Amid, Ali / Liu, Siyu / Babbs, Christian / Higgs, Douglas R

Blood

2024

Abstract: Haemoglobin Bart's hydrops fetalis syndrome (BHFS) represents the most severe form of α-thalassaemia, arising from deletion of the duplicated α-globin genes from both alleles. The absence of α-globin leads to the formation of non-functional haemoglobin ... ...

Abstract	Haemoglobin Bart's hydrops fetalis syndrome (BHFS) represents the most severe form of α-thalassaemia, arising from deletion of the duplicated α-globin genes from both alleles. The absence of α-globin leads to the formation of non-functional haemoglobin Bart's (γ4) or haemoglobin H (HbH: β4) resulting in severe anaemia, tissue hypoxia, and, in some cases, variable congenital or neurocognitive abnormalities. BHFS is the most common cause of hydrops fetalis in Southeast Asia; however, owing to global migration, the burden of this condition is increasing worldwide. With the availability of intensive perinatal care and intrauterine transfusions, an increasing number of patients survive with this condition. The current approach to long-term management of survivors involves regular blood transfusions and iron chelation, a task made challenging by the need for intensified transfusions to suppress the production of non-functional HbH-containing erythrocytes. While our knowledge of outcomes of this condition is evolving, it seems, in comparison to individuals with transfusion-dependent β-thalassaemia, those with BHFS may face an elevated risk of complications arising from chronic anaemia and hypoxia, ongoing haemolysis, iron overload, and from their respective treatments. Although stem cell transplantation remains a viable option for a select few, it is not without potential side effects. Looking ahead, potential advancements in the form of genetic engineering and innovative therapeutic approaches, such as the reactivation of embryonic α-like globin gene expression, hold promise for furthering the treatment of this condition. Prevention remains a crucial aspect of care, particularly in areas with high prevalence or limited resources.
Language	English
Publishing date	2024-03-08
Publishing country	United States
Document type	Journal Article
ZDB-ID	80069-7
ISSN	1528-0020 ; 0006-4971
ISSN (online)	1528-0020
ISSN	0006-4971
DOI	10.1182/blood.2023023692
Database	MEDical Literature Analysis and Retrieval System OnLINE

In stock of ZB MED Cologne/Königswinter

Uh III Zs.140: Show issues			Location: Je nach Verfügbarkeit (siehe Angabe bei Bestand) bis Jg. 2021: Bestellungen von Artikeln über das Online-Bestellformular ab Jg. 2022: Lesesaal (EG)
Zs.MO 364: Show issues

Order via subito

Details ▾
- See ZB MED holdings
- Order with fees

Article ; Online: The pathogenesis, diagnosis and management of congenital dyserythropoietic anaemia type I.

Roy, Noémi B A / Babbs, Christian

British journal of haematology

2019 Volume 185, Issue 3, Page(s) 436–449

Abstract: Congenital dyserythropoietic anaemia type I (CDA-I) is one of a heterogeneous group of inherited anaemias characterised by ineffective erythropoiesis. CDA-I is caused by bi-allelic mutations in either CDAN1 or C15orf41 and, to date, 56 causative ... ...

Abstract	Congenital dyserythropoietic anaemia type I (CDA-I) is one of a heterogeneous group of inherited anaemias characterised by ineffective erythropoiesis. CDA-I is caused by bi-allelic mutations in either CDAN1 or C15orf41 and, to date, 56 causative mutations have been documented. The diagnostic pathway is reviewed and the utility of genetic testing in reducing the time taken to reach an accurate molecular diagnosis and avoiding bone marrow aspiration, where possible, is described. The management of CDA-I patients is discussed, highlighting both general and specific measures which impact on disease progression. The use of interferon alpha and careful management of iron overload are reviewed and suggest the most favourable outcomes are achieved when CDA-I patients are managed with a holistic and multidisciplinary approach. Finally, the current understanding of the molecular and cellular pathogenesis of CDA-I is presented, highlighting critical questions likely to lead to improved therapy for this disease.
MeSH term(s)	Alleles ; Anemia, Dyserythropoietic, Congenital/diagnosis ; Anemia, Dyserythropoietic, Congenital/genetics ; Anemia, Dyserythropoietic, Congenital/metabolism ; Anemia, Dyserythropoietic, Congenital/therapy ; Genetic Testing ; Glycoproteins/genetics ; Glycoproteins/metabolism ; Humans ; Interferon-alpha/therapeutic use ; Iron Overload/diagnosis ; Iron Overload/genetics ; Iron Overload/metabolism ; Iron Overload/prevention & control ; Mutation ; Nuclear Proteins/genetics ; Nuclear Proteins/metabolism
Chemical Substances	CDAN1 protein, human ; Glycoproteins ; Interferon-alpha ; Nuclear Proteins
Language	English
Publishing date	2019-03-05
Publishing country	England
Document type	Journal Article ; Research Support, Non-U.S. Gov't ; Review
ZDB-ID	80077-6
ISSN	1365-2141 ; 0007-1048
ISSN (online)	1365-2141
ISSN	0007-1048
DOI	10.1111/bjh.15817
Database	MEDical Literature Analysis and Retrieval System OnLINE

Full text online

Accessible to users with ZB MED library card

In stock of ZB MED Cologne/Königswinter

Uh III Zs.182: Show issues

Location:
Je nach Verfügbarkeit (siehe Angabe bei Bestand)
bis Jg. 2021: Bestellungen von Artikeln über das Online-Bestellformular
ab Jg. 2022: Lesesaal (EG)

Order via subito

Details ▾

Article ; Online: An international registry of survivors with Hb Bart's hydrops fetalis syndrome.

Songdej, Duantida / Babbs, Christian / Higgs, Douglas R

Blood

2017 Volume 129, Issue 10, Page(s) 1251–1259

Abstract: Hemoglobin (Hb) Bart's hydrops fetalis syndrome (BHFS) resulting from ... ...

Abstract	Hemoglobin (Hb) Bart's hydrops fetalis syndrome (BHFS) resulting from α
MeSH term(s)	Adolescent ; Adult ; Child ; Child, Preschool ; Female ; Hemoglobins, Abnormal/genetics ; Humans ; Hydrops Fetalis/etiology ; Hydrops Fetalis/genetics ; Hydrops Fetalis/mortality ; Infant ; Infant, Newborn ; Male ; Registries ; Survivors ; Young Adult ; alpha-Thalassemia/complications ; alpha-Thalassemia/genetics ; alpha-Thalassemia/mortality
Chemical Substances	Hemoglobins, Abnormal ; hemoglobin Bart's (9056-09-1)
Language	English
Publishing date	2017-01-05
Publishing country	United States
Document type	Journal Article ; Review ; Research Support, Non-U.S. Gov't
ZDB-ID	80069-7
ISSN	1528-0020 ; 0006-4971
ISSN (online)	1528-0020
ISSN	0006-4971
DOI	10.1182/blood-2016-08-697110
Database	MEDical Literature Analysis and Retrieval System OnLINE

In stock of ZB MED Cologne/Königswinter

Uh III Zs.140: Show issues			Location: Je nach Verfügbarkeit (siehe Angabe bei Bestand) bis Jg. 2021: Bestellungen von Artikeln über das Online-Bestellformular ab Jg. 2022: Lesesaal (EG)
Zs.MO 364: Show issues

Order via subito

Details ▾
- See ZB MED holdings
- Order with fees

Article ; Online: Super-enhancers include classical enhancers and facilitators to fully activate gene expression.

Blayney, Joseph W / Francis, Helena / Rampasekova, Alexandra / Camellato, Brendan / Mitchell, Leslie / Stolper, Rosa / Cornell, Lucy / Babbs, Christian / Boeke, Jef D / Higgs, Douglas R / Kassouf, Mira

Cell

2023 Volume 186, Issue 26, Page(s) 5826–5839.e18

Abstract: Super-enhancers are compound regulatory elements that control expression of key cell identity genes. They recruit high levels of tissue-specific transcription factors and co-activators such as the Mediator complex and contact target gene promoters with ... ...

Abstract	Super-enhancers are compound regulatory elements that control expression of key cell identity genes. They recruit high levels of tissue-specific transcription factors and co-activators such as the Mediator complex and contact target gene promoters with high frequency. Most super-enhancers contain multiple constituent regulatory elements, but it is unclear whether these elements have distinct roles in activating target gene expression. Here, by rebuilding the endogenous multipartite α-globin super-enhancer, we show that it contains bioinformatically equivalent but functionally distinct element types: classical enhancers and facilitator elements. Facilitators have no intrinsic enhancer activity, yet in their absence, classical enhancers are unable to fully upregulate their target genes. Without facilitators, classical enhancers exhibit reduced Mediator recruitment, enhancer RNA transcription, and enhancer-promoter interactions. Facilitators are interchangeable but display functional hierarchy based on their position within a multipartite enhancer. Facilitators thus play an important role in potentiating the activity of classical enhancers and ensuring robust activation of target genes.
MeSH term(s)	Enhancer Elements, Genetic ; Promoter Regions, Genetic ; Super Enhancers ; Transcription Factors/metabolism ; Transcription, Genetic ; alpha-Globins/genetics ; Gene Expression Regulation
Chemical Substances	Transcription Factors ; alpha-Globins
Language	English
Publishing date	2023-12-14
Publishing country	United States
Document type	Journal Article ; Research Support, Non-U.S. Gov't ; Research Support, N.I.H., Extramural
ZDB-ID	187009-9
ISSN	1097-4172 ; 0092-8674
ISSN (online)	1097-4172
ISSN	0092-8674
DOI	10.1016/j.cell.2023.11.030
Database	MEDical Literature Analysis and Retrieval System OnLINE

Full text online

Accessible to users with ZB MED library card

In stock of ZB MED Cologne/Königswinter

Zs.A 1167: Show issues			Location: Je nach Verfügbarkeit (siehe Angabe bei Bestand) bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular Jg. 1995 - 2021: Lesesall (1.OG) ab Jg. 2022: Lesesaal (EG)
Zs.MG 58: Show issues

Order via subito

Details ▾

Article ; Online: Characterizing and Modeling Bone Formation during Mouse Calvarial Development.

Marghoub, Arsalan / Libby, Joseph / Babbs, Christian / Ventikos, Yiannis / Fagan, Michael J / Moazen, Mehran

Physical review letters

2019 Volume 122, Issue 4, Page(s) 48103

Abstract: The newborn mammalian cranial vault consists of five flat bones that are joined together along their edges by soft fibrous tissues called sutures. Early fusion of these sutures leads to a medical condition known as craniosynostosis. The mechanobiology of ...

Abstract	The newborn mammalian cranial vault consists of five flat bones that are joined together along their edges by soft fibrous tissues called sutures. Early fusion of these sutures leads to a medical condition known as craniosynostosis. The mechanobiology of normal and craniosynostotic skull growth is not well understood. In a series of previous studies, we characterized and modeled radial expansion of normal and craniosynostotic (Crouzon) mice. Here, we describe a new modeling algorithm to simulate bone formation at the sutures in normal and craniosynostotic mice. Our results demonstrate that our modeling approach is capable of predicting the observed ex vivo pattern of bone formation at the sutures in the aforementioned mice. The same approach can be used to model different calvarial reconstruction in children with craniosynostosis to assist in the management of this complex condition.
MeSH term(s)	Animals ; Mice ; Models, Biological ; Osteogenesis ; Skull/diagnostic imaging ; Skull/growth & development ; Skull/physiology ; X-Ray Microtomography
Language	English
Publishing date	2019-02-26
Publishing country	United States
Document type	Journal Article
ZDB-ID	208853-8
ISSN	1079-7114 ; 0031-9007
ISSN (online)	1079-7114
ISSN	0031-9007
DOI	10.1103/PhysRevLett.122.048103
Database	MEDical Literature Analysis and Retrieval System OnLINE

In stock of ZB MED Bonn / Germany

Z 4' 58/153: Show issues

Order via subito

Inter-library loan at ZB MED

Your chosen title can be delivered directly to ZB MED Cologne location if you are registered as a user at ZB MED Cologne.

Details ▾
- See ZB MED holdings
- Order with fees

Article: RNA Polymerase II pausing temporally coordinates cell cycle progression and erythroid differentiation.

Martell, Danya J / Merens, Hope E / Fiorini, Claudia / Caulier, Alexis / Ulirsch, Jacob C / Ietswaart, Robert / Choquet, Karine / Graziadei, Giovanna / Brancaleoni, Valentina / Cappellini, Maria Domenica / Scott, Caroline / Roberts, Nigel / Proven, Melanie / Roy, Noémi Ba / Babbs, Christian / Higgs, Douglas R / Sankaran, Vijay G / Churchman, L Stirling

medRxiv : the preprint server for health sciences

2023

Abstract: The controlled release of promoter-proximal paused RNA polymerase II (Pol II) into productive elongation is a major step in gene regulation. However, functional analysis of Pol II pausing is difficult because factors that regulate pause release are ... ...

Abstract	The controlled release of promoter-proximal paused RNA polymerase II (Pol II) into productive elongation is a major step in gene regulation. However, functional analysis of Pol II pausing is difficult because factors that regulate pause release are almost all essential. In this study, we identified heterozygous loss-of-function mutations in
Language	English
Publishing date	2023-03-07
Publishing country	United States
Document type	Preprint
DOI	10.1101/2023.03.03.23286760
Database	MEDical Literature Analysis and Retrieval System OnLINE

Inter-library loan at ZB MED

Your chosen title can be delivered directly to ZB MED Cologne location if you are registered as a user at ZB MED Cologne.

Details ▾

Article ; Online: A new mouse model of ATR-X syndrome carrying a common patient mutation exhibits neurological and morphological defects.

Tillotson, Rebekah / Yan, Keqin / Ruston, Julie / DeYoung, Taylor / Córdova, Alex / Turcotte-Cardin, Valérie / Yee, Yohan / Taylor, Christine / Visuvanathan, Shagana / Babbs, Christian / Ivakine, Evgueni A / Sled, John G / Nieman, Brian J / Picketts, David J / Justice, Monica J

Human molecular genetics

2023 Volume 32, Issue 15, Page(s) 2485–2501

Abstract: ATRX is a chromatin remodelling ATPase that is involved in transcriptional regulation, DNA damage repair and heterochromatin maintenance. It has been widely studied for its role in ALT-positive cancers, but its role in neurological function remains ... ...

Abstract	ATRX is a chromatin remodelling ATPase that is involved in transcriptional regulation, DNA damage repair and heterochromatin maintenance. It has been widely studied for its role in ALT-positive cancers, but its role in neurological function remains elusive. Hypomorphic mutations in the X-linked ATRX gene cause a rare form of intellectual disability combined with alpha-thalassemia called ATR-X syndrome in hemizygous males. Clinical features also include facial dysmorphism, microcephaly, short stature, musculoskeletal defects and genital abnormalities. As complete deletion of ATRX in mice results in early embryonic lethality, the field has largely relied on conditional knockout models to assess the role of ATRX in multiple tissues. Given that null alleles are not found in patients, a more patient-relevant model was needed. Here, we have produced and characterized the first patient mutation knock-in model of ATR-X syndrome, carrying the most common causative mutation, R246C. This is one of a cluster of missense mutations located in the chromatin-binding domain and disrupts its function. The knock-in mice recapitulate several aspects of the patient disorder, including craniofacial defects, microcephaly, reduced body size and impaired neurological function. They provide a powerful model for understanding the molecular mechanisms underlying ATR-X syndrome and testing potential therapeutic strategies.
MeSH term(s)	Animals ; Male ; Mice ; alpha-Thalassemia/genetics ; Mental Retardation, X-Linked/genetics ; Microcephaly/genetics ; Mutation ; Nuclear Proteins/genetics ; X-linked Nuclear Protein/genetics ; Humans
Chemical Substances	Nuclear Proteins ; X-linked Nuclear Protein (EC 3.6.4.12)
Language	English
Publishing date	2023-05-12
Publishing country	England
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	1108742-0
ISSN	1460-2083 ; 0964-6906
ISSN (online)	1460-2083
ISSN	0964-6906
DOI	10.1093/hmg/ddad075
Database	MEDical Literature Analysis and Retrieval System OnLINE

In stock of ZB MED Cologne/Königswinter

Zs.A 3469: Show issues

Location:
Je nach Verfügbarkeit (siehe Angabe bei Bestand)
bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
Jg. 1995 - 2021: Lesesall (2.OG)
ab Jg. 2022: Lesesaal (EG)

Order via subito

Details ▾
- See ZB MED holdings
- Order with fees

Article: Ancient genomic linkage couples metabolism with erythroid development.

Preston, Alexandra E / Frost, Joe N / Badat, Mohsin / Teh, Megan / Armitage, Andrew E / Norfo, Ruggiero / Wideman, Sarah K / Hanifi, Muhammad / White, Natasha / Roy, Noémi / Ghesquiere, Bart / Babbs, Christian / Kassouf, Mira / Davies, James / Hughes, Jim R / Beagrie, Rob / Higgs, Douglas R / Drakesmith, Hal

bioRxiv : the preprint server for biology

2023

Abstract: Generation of mature cells from progenitors requires tight coupling of differentiation and metabolism. During erythropoiesis, erythroblasts are required to massively upregulate globin synthesis then clear extraneous material and enucleate to produce ... ...

Abstract	Generation of mature cells from progenitors requires tight coupling of differentiation and metabolism. During erythropoiesis, erythroblasts are required to massively upregulate globin synthesis then clear extraneous material and enucleate to produce erythrocytes
Language	English
Publishing date	2023-09-25
Publishing country	United States
Document type	Preprint
DOI	10.1101/2023.09.25.558944
Database	MEDical Literature Analysis and Retrieval System OnLINE

Inter-library loan at ZB MED

Your chosen title can be delivered directly to ZB MED Cologne location if you are registered as a user at ZB MED Cologne.

Details ▾

Article ; Online: RNA polymerase II pausing temporally coordinates cell cycle progression and erythroid differentiation.

Martell, Danya J / Merens, Hope E / Caulier, Alexis / Fiorini, Claudia / Ulirsch, Jacob C / Ietswaart, Robert / Choquet, Karine / Graziadei, Giovanna / Brancaleoni, Valentina / Cappellini, Maria Domenica / Scott, Caroline / Roberts, Nigel / Proven, Melanie / Roy, Noémi B A / Babbs, Christian / Higgs, Douglas R / Sankaran, Vijay G / Churchman, L Stirling

Developmental cell

2023 Volume 58, Issue 20, Page(s) 2112–2127.e4

Abstract: Controlled release of promoter-proximal paused RNA polymerase II (RNA Pol II) is crucial for gene regulation. However, studying RNA Pol II pausing is challenging, as pause-release factors are almost all essential. In this study, we identified ... ...

Abstract	Controlled release of promoter-proximal paused RNA polymerase II (RNA Pol II) is crucial for gene regulation. However, studying RNA Pol II pausing is challenging, as pause-release factors are almost all essential. In this study, we identified heterozygous loss-of-function mutations in SUPT5H, which encodes SPT5, in individuals with β-thalassemia. During erythropoiesis in healthy human cells, cell cycle genes were highly paused as cells transition from progenitors to precursors. When the pathogenic mutations were recapitulated by SUPT5H editing, RNA Pol II pause release was globally disrupted, and as cells began transitioning from progenitors to precursors, differentiation was delayed, accompanied by a transient lag in erythroid-specific gene expression and cell cycle kinetics. Despite this delay, cells terminally differentiate, and cell cycle phase distributions normalize. Therefore, hindering pause release perturbs proliferation and differentiation dynamics at a key transition during erythropoiesis, identifying a role for RNA Pol II pausing in temporally coordinating the cell cycle and erythroid differentiation.
MeSH term(s)	Humans ; RNA Polymerase II/genetics ; RNA Polymerase II/metabolism ; Gene Expression Regulation ; Cell Differentiation ; Cell Cycle ; Transcription, Genetic ; Nuclear Proteins/metabolism ; Transcriptional Elongation Factors/genetics
Chemical Substances	RNA Polymerase II (EC 2.7.7.-) ; SUPT5H protein, human ; Nuclear Proteins ; Transcriptional Elongation Factors
Language	English
Publishing date	2023-08-15
Publishing country	United States
Document type	Journal Article ; Research Support, Non-U.S. Gov't ; Research Support, N.I.H., Extramural ; Research Support, U.S. Gov't, Non-P.H.S.
ZDB-ID	2054967-2
ISSN	1878-1551 ; 1534-5807
ISSN (online)	1878-1551
ISSN	1534-5807
DOI	10.1016/j.devcel.2023.07.018
Database	MEDical Literature Analysis and Retrieval System OnLINE

Full text online

Accessible to users with ZB MED library card

In stock of ZB MED Cologne/Königswinter

Zs.A 5742: Show issues			Location: Je nach Verfügbarkeit (siehe Angabe bei Bestand) bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular Jg. 1995 - 2021: Lesesall (2.OG) ab Jg. 2022: Lesesaal (EG)
Zs.MG 76: Show issues

Order via subito

Details ▾

To top

More links

Kategorien

In stock of ZB MED Cologne/Königswinter

Order via subito

More links

Kategorien

In stock of ZB MED Cologne/Königswinter

Order via subito

Full text online

More links

Kategorien

In stock of ZB MED Cologne/Königswinter

Order via subito

More links

Kategorien

In stock of ZB MED Cologne/Königswinter

Order via subito

Full text online

More links

Kategorien

In stock of ZB MED Cologne/Königswinter

Order via subito

More links

Kategorien

In stock of ZB MED Bonn / Germany

Order via subito

Inter-library loan at ZB MED

More links

Kategorien

Inter-library loan at ZB MED

More links

Kategorien

In stock of ZB MED Cologne/Königswinter

Order via subito

More links

Kategorien

Inter-library loan at ZB MED

Full text online

More links

Kategorien

In stock of ZB MED Cologne/Königswinter

Order via subito