Výsledky vyhledávání - "Dominyka Batkovskyte"

Akademický článek

The level of protein in the maternal murine diet modulates the facial appearance of the offspring via mTORC1 signaling

Autor: Meng Xie, Markéta Kaiser, Yaakov Gershtein, Daniela Schnyder, Ruslan Deviatiiarov, Guzel Gazizova, Elena Shagimardanova, Tomáš Zikmund, Greet Kerckhofs, Evgeny Ivashkin, Dominyka Batkovskyte, Phillip T. Newton, Olov Andersson, Kaj Fried, Oleg Gusev, Hugo Zeberg, Jozef Kaiser, Igor Adameyko, Andrei S. Chagin

Publikováno v: Nature Communications, Vol 15, Iss 1, Pp 1-15 (2024)

Abstract The development of craniofacial skeletal structures is fascinatingly complex and elucidation of the underlying mechanisms will not only provide novel scientific insights, but also help develop more effective clinical approaches to the treatm

Externí odkaz: https://doaj.org/article/b8eba6251901412a836b2d409c832b4b

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Akademický článek

Clinical, genetic and structural delineation of RPL13-related spondyloepimetaphyseal dysplasia suggest extra-ribosomal functions of eL13

Publikováno v: npj Genomic Medicine, Vol 8, Iss 1, Pp 1-10 (2023)

Abstract Spondyloepimetaphyseal dysplasia with severe short stature, RPL13-related (SEMD-RPL13), MIM#618728), is a rare autosomal dominant disorder characterized by short stature and skeletal changes such as mild spondylar and epimetaphyseal dysplasi

Externí odkaz: https://doaj.org/article/7fd8ea3e8a5a439794ea10065835754b

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Akademický článek

Case report: Extending the spectrum of clinical and molecular findings in FOXC1 haploinsufficiency syndrome

Autor: Alexandra Garza Flores, Ida Nordgren, Maria Pettersson, Dora Dias-Santagata, Daniel Nilsson, Anna Hammarsjö, Anna Lindstrand, Dominyka Batkovskyte, Janey Wiggs, David S. Walton, Paula Goldenberg, Jesper Eisfeldt, Angela E. Lin, Ralph S. Lachman, Gen Nishimura, Giedre Grigelioniene

Publikováno v: Frontiers in Genetics, Vol 14 (2023)

FOXC1 is a ubiquitously expressed forkhead transcription factor that plays a critical role during early development. Germline pathogenic variants in FOXC1 are associated with anterior segment dysgenesis and Axenfeld-Rieger syndrome (ARS, #602482), an

Externí odkaz: https://doaj.org/article/4c781b29b14b4f2ca44d5bf090231ae4

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Akademický článek

Expanding the mutation and phenotype spectrum of MYH3-associated skeletal disorders

Publikováno v: npj Genomic Medicine, Vol 7, Iss 1, Pp 1-11 (2022)

Abstract Pathogenic variants in MYH3 cause distal arthrogryposis type 2A and type 2B3 as well as contractures, pterygia and spondylocarpotarsal fusion syndromes types 1A and 1B. These disorders are ultra-rare and their natural course and phenotypic v

Externí odkaz: https://doaj.org/article/0de9e51627714482a09108f93d1360a8

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Akademický článek

A hypomorphic variant in the translocase of the outer mitochondrial membrane complex subunit TOMM7 causes short stature and developmental delay

Autor: Cameron Young, Dominyka Batkovskyte, Miyuki Kitamura, Maria Shvedova, Yutaro Mihara, Jun Akiba, Wen Zhou, Anna Hammarsjö, Gen Nishimura, Shuichi Yatsuga, Giedre Grigelioniene, Tatsuya Kobayashi

Publikováno v: HGG Advances, Vol 4, Iss 1, Pp 100148- (2023)

Summary: Mitochondrial diseases are a heterogeneous group of genetic disorders caused by pathogenic variants in genes encoding gene products that regulate mitochondrial function. These genes are located either in the mitochondrial or in the nuclear g

Externí odkaz: https://doaj.org/article/d0f69c7ad5b442daa8ce8c143d8685b9

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