Search Results - "Semina, V. V."

Congenital anterior segment ocular disorders: Genotype-phenotype correlations and emerging novel mechanisms by Reis, Linda M., Seese, Sarah E., Costakos, Deborah, Semina, Elena V.

“…Development of the anterior segment of the eye requires reciprocal sequential interactions between the arising tissues, facilitated by numerous genetic…”
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Genetics of anterior segment dysgenesis disorders by Reis, Linda M, Semina, Elena V

“…PURPOSE OF REVIEWAnterior segment dysgenesis (ASD) disorders encompass a spectrum of developmental conditions affecting the cornea, iris, and lens and are…”
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Functional characterization of zebrafish orthologs of the human Beta 3-Glucosyltransferase B3GLCT gene mutated in Peters Plus Syndrome by Weh, Eric, Takeuchi, Hideyuki, Muheisen, Sanaa, Haltiwanger, Robert S, Semina, Elena V

“…Peters Plus Syndrome (PPS) is a rare autosomal recessive disease characterized by ocular defects, short stature, brachydactyly, characteristic facial features,…”
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Mutations in MAB21L2 result in ocular Coloboma, microcornea and cataracts by Deml, Brett, Kariminejad, Ariana, Borujerdi, Razieh H R, Muheisen, Sanaa, Reis, Linda M, Semina, Elena V

“…Ocular coloboma results from abnormal embryonic development and is often associated with additional ocular and systemic features. Coloboma is a highly…”
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Novel mutations in PAX6, OTX2 and NDP in anophthalmia, microphthalmia and coloboma by Deml, Brett, Reis, Linda M, Lemyre, Emmanuelle, Clark, Robin D, Kariminejad, Ariana, Semina, Elena V

“…Anophthalmia and microphthalmia (A/M) are developmental ocular malformations defined as the complete absence or reduction in size of the eye. A/M is a highly…”
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Further Evidence for a Possible Role for ZHFX4 in Human Ocular Development and Disease by Reis, Linda M, Zaidman, Gerald W, Thompson, Samuel, Muheisen, Sanaa, Glaser, Tom, Semina, Elena V

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OTX2 microphthalmia syndrome: four novel mutations and delineation of a phenotype by Schilter, KF, Schneider, A, Bardakjian, T, Soucy, J-F, Tyler, RC, Reis, LM, Semina, EV

“…Schilter KF, Schneider A, Bardakjian T, Soucy J‐F, Tyler RC, Reis LM, Semina EV. OTX2 microphthalmia syndrome: four novel mutations and delineation of a…”
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Deletion upstream of MAB21L2 highlights the importance of evolutionarily conserved non-coding sequences for eye development by Ceroni, Fabiola, Cicekdal, Munevver B., Holt, Richard, Sorokina, Elena, Chassaing, Nicolas, Clokie, Samuel, Naert, Thomas, Talbot, Lidiya V., Muheisen, Sanaa, Bax, Dorine A., Kesim, Yesim, Kivuva, Emma C., Vincent-Delorme, Catherine, Lienkamp, Soeren S., Plaisancié, Julie, De Baere, Elfride, Calvas, Patrick, Vleminckx, Kris, Semina, Elena V., Ragge, Nicola K.

“…Anophthalmia, microphthalmia and coloboma (AMC) comprise a spectrum of developmental eye disorders, accounting for approximately 20% of childhood visual…”
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Urokinase System in Pathogenesis of Pulmonary Fibrosis: A Hidden Threat of COVID-19 by Shmakova, Anna A, Popov, Vladimir S, Romanov, Iliya P, Khabibullin, Nikita R, Sabitova, Nailya R, Karpukhina, Anna A, Kozhevnikova, Yana A, Kurilina, Ella V, Tsokolaeva, Zoya I, Klimovich, Polina S, Rubina, Kseniya A, Vassetzky, Yegor S, Semina, Ekaterina V

“…Pulmonary fibrosis is a common and threatening post-COVID-19 complication with poorly resolved molecular mechanisms and no established treatment. The…”
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pitx2 Deficiency results in abnormal ocular and craniofacial development in zebrafish by Liu, Yi, Semina, Elena V

“…Human PITX2 mutations are associated with Axenfeld-Rieger syndrome, an autosomal-dominant developmental disorder that involves ocular anterior segment defects,…”
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Effect of Irradiation with 132Xe27+ Ions at Different Angles on the Critical Parameters of Second-Generation HTSC Tapes Based on GdBa2Cu3O7–x by Antonova, L. Kh, Semina, V. K., Troitskii, A. V.

“…The effect of 132 Xe 27+ ion (167 MeV) irradiation at angles of 20°, 30°, 60°, and 90° to the tape surface is studied. The critical parameters of the…”
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CRISPR-Cas9-mediated functional dissection of the foxc1 genomic region in zebrafish identifies critical conserved cis-regulatory elements by Ferre-Fernández, Jesús-José, Muheisen, Sanaa, Thompson, Samuel, Semina, Elena V

“…FOXC1 encodes a forkhead-domain transcription factor associated with several ocular disorders. Correct FOXC1 dosage is critical to normal development, yet the…”
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ALK, ROS1, RET and NTRK1–3 Gene Fusions in Colorectal and Non-Colorectal Microsatellite-Unstable Cancers by Mulkidjan, Rimma S., Saitova, Evgeniya S., Preobrazhenskaya, Elena V., Asadulaeva, Karimat A., Bubnov, Mikhail G., Otradnova, Ekaterina A., Terina, Darya M., Shulga, Sofia S., Martynenko, Darya E., Semina, Maria V., Belogubova, Evgeniya V., Tiurin, Vladislav I., Amankwah, Priscilla S., Martianov, Aleksandr S., Imyanitov, Evgeny N.

“…This study aimed to conduct a comprehensive analysis of actionable gene rearrangements in tumors with microsatellite instability (MSI). The detection of…”
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The Association of PLAUR Genotype and Soluble suPAR Serum Level with COVID-19-Related Lung Damage Severity by Nekrasova, Ludmila A, Shmakova, Anna A, Samokhodskaya, Larisa M, Kirillova, Karina I, Stoyanova, Simona S, Mershina, Elena A, Nazarova, Galina B, Rubina, Kseniya A, Semina, Ekaterina V, Kamalov, Armais A

“…Uncovering the risk factors for acute respiratory disease coronavirus 2019 (COVID-19) severity may help to provide a valuable tool for early patient…”
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Prevention Strategies and Early Diagnosis of Cervical Cancer: Current State and Prospects by Kakotkin, Viktor V, Semina, Ekaterina V, Zadorkina, Tatiana G, Agapov, Mikhail A

“…Cervical cancer ranks third among all new cancer cases and causes of cancer deaths in females. The paper provides an overview of cervical cancer prevention…”
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Whole exome analysis identifies dominant COL4A1 mutations in patients with complex ocular phenotypes involving microphthalmia by Deml, B., Reis, L.M., Maheshwari, M., Griffis, C., Bick, D., Semina, E.V.

“…Anophthalmia/microphthalmia (A/M) is a developmental ocular malformation defined as complete absence or reduction in size of the eye. A/M is a heterogenous…”
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T-Cadherin Deficiency Is Associated with Increased Blood Pressure after Physical Activity by Popov, Vladimir S, Brodsky, Ilya B, Balatskaya, Maria N, Balatskiy, Alexander V, Ozhimalov, Ilia D, Kulebyakina, Maria A, Semina, Ekaterina V, Arbatskiy, Mikhail S, Isakova, Viktoria S, Klimovich, Polina S, Sysoeva, Veronika Y, Kalinina, Natalia I, Tkachuk, Vsevolod A, Rubina, Kseniya A

“…T-cadherin is a regulator of blood vessel remodeling and angiogenesis, involved in adiponectin-mediated protective effects in the cardiovascular system and in…”
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EFTUD2 deficiency in vertebrates: Identification of a novel human mutation and generation of a zebrafish model by Deml, Brett, Reis, Linda M., Muheisen, Sanaa, Bick, David, Semina, Elena V.

“…Background Congenital microphthalmia and coloboma are severe developmental defects that are frequently associated with additional systemic anomalies and…”
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BMP4 loss-of-function mutations in developmental eye disorders including SHORT syndrome by Reis, Linda M., Tyler, Rebecca C., Schilter, Kala F., Abdul-Rahman, Omar, Innis, Jeffrey W., Kozel, Beth A., Schneider, Adele S., Bardakjian, Tanya M., Lose, Edward J., Martin, Donna M., Broeckel, Ulrich, Semina, Elena V.

“…BMP4 loss-of-function mutations and deletions have been shown to be associated with ocular, digital, and brain anomalies, but due to the paucity of these…”
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Whole-genome copy number variation analysis in anophthalmia and microphthalmia by Schilter, KF, Reis, LM, Schneider, A, Bardakjian, TM, Abdul-Rahman, O, Kozel, BA, Zimmerman, HH, Broeckel, U, Semina, EV

“…Anophthalmia/microphthalmia (A/M) represent severe developmental ocular malformations. Currently, mutations in known genes explain less than 40% of A/M cases…”
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