Zobrazeno 1 - 10
of 30
pro vyhledávání: '"Louise Ocaka"'
Autor:
Hélène Mathieu, Shunmoogum A. Patten, Jose Antonio Aragon-Martin, Louise Ocaka, Michael Simpson, Anne Child, Florina Moldovan
Publikováno v:
Scientific Reports, Vol 11, Iss 1, Pp 1-15 (2021)
Abstract Idiopathic scoliosis (IS) is a complex 3D deformation of the spine with a strong genetic component, most commonly found in adolescent girls. Adolescent idiopathic scoliosis (AIS) affects around 3% of the general population. In a 5-generation
Externí odkaz:
https://doaj.org/article/2c82ae51ab604986949fc32ba08186ed
Autor:
Mustafa M Munye, Anna Diaz-Font, Louise Ocaka, Maiken L Henriksen, Melissa Lees, Angela Brady, Dagan Jenkins, Jenny Morton, Soren W Hansen, Chiara Bacchelli, Philip L Beales, Victor Hernandez-Hernandez
Publikováno v:
PLoS Genetics, Vol 13, Iss 3, p e1006679 (2017)
3MC syndrome is an autosomal recessive heterogeneous disorder with features linked to developmental abnormalities. The main features include facial dysmorphism, craniosynostosis and cleft lip/palate; skeletal structures derived from cranial neural cr
Externí odkaz:
https://doaj.org/article/d4cff8dee67f4df98f85d62b08e48905
Autor:
Iain C.A.F. Robinson, Roberto Oleari, Sakina Rajabali, Hywel Williams, Takahisa Furukawa, Mario J. Cachia, Kimberley L. H. Riegman, Mehul T. Dattani, Daniel Field, Alyssa Paganoni, Louise C. Gregory, M. Albert Basson, Lisa Benedetta De Martini, Anna Cariboni, Antonella Lettieri, Polona Le Quesne Stabej, John Torpiano, Taro Chaya, Nancy Formosa, Danielle E. Whittaker, Louise Ocaka
Publikováno v:
The Journal of Clinical Investigation
The positive regulatory (PR) domain containing 13 (PRDM13) putative chromatin modifier and transcriptional regulator functions downstream of the transcription factor PTF1A, which controls GABAergic fate in the spinal cord and neurogenesis in the hypo
Autor:
Roberto Oleari, Nancy Formosa, Alyssa Paganoni, Polona Le Quesne-Stabej, GOSgene, Hywel Williams, Anna Cariboni, Iain C.A.F. Robinson, Takahisa Furukawa, Mario J. Cachia, Taro Chaya, M. Albert Basson, Louise Ocaka, Daniel Field, Danielle E. Whittaker, Louise C. Gregory, Kimberley L. H. Riegman, John Torpiano, Lisa Benedetta De Martini, Antonella Lettieri, Sakina Rajabali, Mehul T. Dattani
PRDM13 (PR Domain containing 13) is a putative chromatin modifier and transcriptional regulator that functions downstream of the transcription factor PTF1A, which in turn controls GABAergic fate in the spinal cord and neuronal development in the hypo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::00d535062d7dfccc6fad2c0166248ce0
https://doi.org/10.1101/2021.07.28.21260126
https://doi.org/10.1101/2021.07.28.21260126
Autor:
Nadjeda Moreno, Ignacio Del Valle Torres, Daniel Kelberman, Louise Ocaka, Chela James, Polona Le Quesne Stabej, Sinéad M. McGlacken-Byrne, Mehul T. Dattani, Gerard S. Conway, Andrey Gagunashvili, John C. Achermann, Berta Crespo, Chiara Bacchelli, Hywel Williams
Publikováno v:
The Journal of Clinical Endocrinology and Metabolism
BackgroundPrimary ovarian insufficiency (POI) affects 1% of women and is associated with significant medical consequences. A genetic cause for POI can be found in up to 30% of women, elucidating key roles for these genes in human ovary development.Ob
Autor:
Helen Spoudeas, Sanner Jrf, Jane A. Hurst, Le Quesne Stabej P, Mehul T. Dattani, Alejandro Martinez-Aguayo, Pratik Shah, Monica Arancibia, Carolina Loureiro, Hywel Williams, Wendy D Jones, Louise C. Gregory, Louise Ocaka
Publikováno v:
The Journal of Clinical Endocrinology & Metabolism. 104:5737-5750
ContextCongenital hypopituitarism (CH) is rarely observed in combination with severe joint contractures (arthrogryposis). Schaaf-Yang syndrome (SHFYNG) phenotypically overlaps with Prader-Willi syndrome, with patients also manifesting arthrogryposis.
Autor:
Mehul T. Dattani, Jane A. Hurst, Louise Ocaka, Hywel Williams, Le Quesne Stabej P, Sanner Jrf, Martinez-guayo A, Wendy D Jones, Helen Spoudeas, Pratik Shah, Monica Arancibia, Carolina Loureiro, Louise C. Gregory
Publikováno v:
Yearbook of Paediatric Endocrinology.
Autor:
Louise Ocaka, Anthony T. Moore, Michalis Georgiou, Alex Ionides, Nikolas Pontikos, Michel Michaelides, Jing Yu, Vanita Berry, Roy A. Quinlan
Publikováno v:
Orphanet Journal of Rare Diseases
Orphanet journal of rare diseases, 2020, Vol.15, pp.333 [Peer Reviewed Journal]
Orphanet journal of rare diseases, vol 15, iss 1
Orphanet journal of rare diseases, 2020, Vol.15, pp.333 [Peer Reviewed Journal]
Orphanet journal of rare diseases, vol 15, iss 1
Background The crystalline lens is mainly composed of a large family of soluble proteins called the crystallins, which are responsible for its development, growth, transparency and refractive index. Disease-causing sequence variants in the crystallin
Autor:
Talia Hartley, Machteld M. Oud, Paul Tuijnenburg, Chela James, Hywel Williams, Taco W. Kuijpers, Machiel H. Jansen, Hans G. Brunner, Maja Hempel, Rui Li, Louise Ocaka, Polona Le Quesne Stabej, PL Beales, Catherine M. Cale, Steven T. Pals, Ronald J.A. Wanders, Zemin Ren, Naomi van Vlies, Davor Lessel, Heleen H. Arts, Rosalind Jane Davies, Christine Hall, Patricia Dias, Lucie Dupuis, Sacha Ferdinandusse, Tim M. Strom, E. Graham Davies, Chiara Bacchelli, Hartmut Engels, Jan-Maarten Cobben, René Santer, Jessika Johannsen, Marielle Alders, Sérgio B. Sousa, Ronald Roepman, Roberto Mendoza-Londono, Ingo Müller, Kai Lehmberg
Publikováno v:
American journal of human genetics, 100(2), 281-296. Cell Press
American Journal of Human Genetics, 100(2), 281-296. Cell Press
American Journal of Human Genetics, 100, 281-296
American Journal of Human Genetics, 100, 2, pp. 281-296
Am. J. Hum. Genet. 100, 281-296 (2017)
American Journal of Human Genetics, 100(2), 281-296. Cell Press
American Journal of Human Genetics, 100, 281-296
American Journal of Human Genetics, 100, 2, pp. 281-296
Am. J. Hum. Genet. 100, 281-296 (2017)
Contains fulltext : 169755.pdf (Publisher’s version ) (Open Access) EXTL3 regulates the biosynthesis of heparan sulfate (HS), important for both skeletal development and hematopoiesis, through the formation of HS proteoglycans (HSPGs). By whole-exo
Autor:
Daniel Kelberman, Andrey Gagunashvili, Vijeya Ganesan, Chiara Bacchelli, Philip L. Beales, Pinki Munot, Louise Ocaka
Publikováno v:
Human Genome Variation
Human Genome Variation, Vol 6, Iss 1, Pp 1-5 (2019)
Human Genome Variation, Vol 6, Iss 1, Pp 1-5 (2019)
In this report, we present a European family with six individuals affected with Moyamoya disease (MMD). We detected two novel missense variants in the Moyamoya susceptibility gene RNF213, c.12553A>G (p.(Lys4185Glu)) and c.12562G>A (p.(Ala4188Thr)). C