Eva Horemuzova
Karolinska Institutet
22 Papers
181 Citations
Eva Horemuzova is an academic researcher from Karolinska Institutet. The author has contributed to research in topics: Dysplasia & Gene. The author has an hindex of 10, co-authored 20 publications. Previous affiliations of Eva Horemuzova include Karolinska University Hospital.
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Papers
FAM111A mutations result in hypoparathyroidism and impaired skeletal development
Sheila Unger,Maria W. Górna,Antony Le Béchec,Sónia do Vale-Pereira,Maria Francesca Bedeschi,Stefan Geiberger,Giedre Grigelioniene,Eva Horemuzova,Faustina Lalatta,Ekkehart Lausch,Cinzia Magnani,Sheela Nampoothiri,Gen Nishimura,Duccio Petrella,Francisca Rojas-Ringeling,Akari Utsunomiya,Bernhard Zabel,Sylvain Pradervand,Keith Harshman,Belinda Campos-Xavier,Luisa Bonafé,Giulio Superti-Furga,Brian Stevenson,Andrea Superti-Furga +23 more
TL;DR: Molecular modeling of FAM111A shows that residues affected by KCS and OCS mutations do not map close to the active site but are clustered on a segment of the protein and are at, or close to, its outer surface, suggesting that the pathogenesis involves the interaction with as yet unidentified partner proteins rather than impaired catalysis.
Gain-of-function mutation of microRNA-140 in human skeletal dysplasia
Giedre Grigelioniene,Hiroshi I. Suzuki,Fulya Taylan,Fatemeh Mirzamohammadi,Zvi Borochowitz,Ugur M. Ayturk,Shay Tzur,Eva Horemuzova,Eva Horemuzova,Anna Lindstrand,Anna Lindstrand,MaryAnn Weis,Gintautas Grigelionis,Anna Hammarsjö,Anna Hammarsjö,Elin Marsk,Ann Nordgren,Ann Nordgren,Magnus Nordenskjöld,Magnus Nordenskjöld,David R. Eyre,Matthew L. Warman,Gen Nishimura,Phillip A. Sharp,Tatsuya Kobayashi +24 more
TL;DR: In this article, a neomorphic seed region mutation in the chondrocyte-specific, super-enhancer-associated MIR140 gene encoding microRNA-140 (miR-140) in a novel autosomal dominant human skeletal dysplasia was reported.
Breathing patterns, oxygen and carbon dioxide levels in sleeping healthy infants during the first nine months after birth.
TL;DR: Data on arterial oxygen saturation (SaO2), transcutaneous pO2, pCO2 and breathing patterns in sleeping healthy term infants were obtained during the first 9 mo after birth and the variables were analysed with respect to age.
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Visual impairment is common in children born before 25 gestational weeks--boys are more vulnerable than girls.
Lena Jacobson,Lena Jacobson,Anna-Lena Hård,Eva Horemuzova,Eva Horemuzova,Hannah Hammarén,Ann Hellström +6 more
TL;DR: Children born extremely preterm have high risk of visual impairment due to retinopathy of prematurity (ROP) and cerebral lesions.
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Clinical and Radiographic Features of the Autosomal Recessive form of Brachyolmia Caused by PAPSS2 Mutations
Aritoshi Iida,Pelin Ozlem Simsek-Kiper,Shuji Mizumoto,Touma Hoshino,Nursel Elcioglu,Eva Horemuzova,Stefan Geiberger,Gozde Yesil,Hülya Kayserili,Gülen Eda Utine,Koray Boduroğlu,Shigehiko Watanabe,Hirofumi Ohashi,Yasemin Alanay,Kazuyuki Sugahara,Gen Nishimura,Shiro Ikegawa +16 more
TL;DR: An autosomal recessive form of brachyolmia that is caused by loss‐of‐function mutations of PAPSS2, the gene encoding PAPS (3‐phosphoadenosine 5-phosphosulfate) synthase 2, is identified and is associated with abnormal androgen metabolism.
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