Search Results - "Napierala, D."

Mutations in FKBP10 cause recessive osteogenesis imperfecta and bruck syndrome by Kelley, B. P, Malfait, F, Bonafe, L, Baldridge, D, Homan, E, Symoens, S, Willaert, A, Elcioglu, N, Van Maldergem, Lionel, Verellen-Dumoulin, C, Gillerot, Y, Napierala, D, Krakow, D, Beighton, P, Superti-Furga, A, De Paepe, Alexandra, Lee, B

“…Osteogenesis imperfecta (OI) is a genetic disorder of connective tissue characterized by bone fragility and alteration in synthesis and posttranslational…”
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Dspp-independent Effects of Transgenic Trps1 Overexpression on Dentin Formation by Mobley, C.G., Kuzynski, M., Zhang, H., Jani, P., Qin, C., Napierala, D.

“…The Trps1 transcription factor is highly expressed in dental mesenchyme and preodontoblasts, while in mature, secretory odontoblasts, it is expressed at low…”
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Tricho-Rhino-Phalangeal Syndrome with Supernumerary Teeth by Kantaputra, P., Miletich, I., Lüdecke, H.-J., Suzuki, E.Y., Praphanphoj, V., Shivdasani, R., Wuelling, M., Vortkamp, A., Napierala, D., Sharpe, P.T.

“…Tricho-rhino-phalangeal syndromes (TRPS) are caused by mutation or deletion of TRPS1, a gene encoding a GATA transcription factor. These disorders are…”
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Effect of polymorphism in the LIF gene on reproductive performance of hybrid Polish Large White and Polish Landrace sows by Napierała, D, Kawęcka, M, Jacyno, E, Matysiak, B, Wierzchowska, A

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The presence of germ line mosaicism in cleidocranial dysplasia by Pal, T, Napierala, D, Becker, TA, Loscalzo, M, Baldridge, D, Lee, B, Sutphen, R

“…Cleidocranial dysplasia (CCD) is typically an autosomal dominant condition. The possibility of alternative causes, such as an autosomal recessive form or germ…”
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Mutations in SERPINF1 cause osteogenesis imperfecta type VI by Homan, Erica P, Rauch, Frank, Grafe, Ingo, Lietman, Caressa, Doll, Jennifer A, Dawson, Brian, Bertin, Terry, Napierala, Dobrawa, Morello, Roy, Gibbs, Richard, White, Lisa, Miki, Rika, Cohn, Daniel H, Crawford, Susan, Travers, Rose, Glorieux, Francis H, Lee, Brendan

“…Osteogenesis imperfecta (OI) is a spectrum of genetic disorders characterized by bone fragility. It is caused by dominant mutations affecting the synthesis…”
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Runx2 contributes to murine Col10a1 gene regulation through direct interaction with its cis‐enhancer by Li, Feifei, Lu, Yaojuan, Ding, Ming, Napierala, Dobrawa, Abbassi, Sam, Chen, Yuqing, Duan, Xiangyun, Wang, Siying, Lee, Brendan, Zheng, Qiping

“…We have recently shown that a 150‐bp Col10a1 distal promoter (−4296 to −4147 bp) is sufficient to direct hypertrophic chondrocyte‐specific reporter (LacZ)…”
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Effect of polymorphism in the LIF gene on reproductive performance of hybrid Polish Large White and Polish Landrace sows : short communication by Wierzchowska, A., Kawecka, M., Matysiak, B., Napierala, D., Jacyno, E.

“…The aim of the study was to determine the potential relationships between variants of the leukaemia inhibitory factor (LIF) gene and litter size in Landrace x…”
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Transcriptional repression of the Dspp gene leads to dentinogenesis imperfecta phenotype in Col1a1-Trps1 transgenic mice by Napierala, Dobrawa, Sun, Yao, Maciejewska, Izabela, Bertin, Terry K, Dawson, Brian, D'Souza, Rena, Qin, Chunlin, Lee, Brendan

“…Dentinogenesis imperfecta (DGI) is a hereditary defect of dentin, a calcified tissue that is the most abundant component of teeth. Most commonly, DGI is…”
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Localization of the Cis‐Enhancer Element for Mouse Type X Collagen Expression in Hypertrophic Chondrocytes In Vivo by Zheng, Qiping, Keller, Bettina, Zhou, Guang, Napierala, Dobrawa, Chen, Yuqing, Zabel, Bernhard, Parker, Andrew E, Lee, Brendan

“…The type X collagen gene (Col10a1) is a specific molecular marker of hypertrophic chondrocytes during endochondral bone formation. Mutations in human COL10A1…”
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Mutations and promoter SNPs in RUNX2, a transcriptional regulator of bone formation by Napierala, Dobrawa, Garcia-Rojas, Xavier, Sam, Kathy, Wakui, Keiko, Chen, Connie, Mendoza-Londono, Roberto, Zhou, Guang, Zheng, Qiping, Lee, Brendan

“…Cleidocranial dysplasia (CCD) is a dominantly inherited skeletal malformation syndrome with high penetrance and variable expressivity. It is caused by loss of…”
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Mosaicism in Tuberous Sclerosis as a Potential Cause of the Failure of Molecular Diagnosis by Kwiatkowska, Jolanta, Wigowska-Sowinska, Jadwiga, Napierala, Dobrawa, Slomski, Ryszard, Kwiatkowski, David J

“…Mosaicism is the phenomenon in which a fraction of, rather than all, germ-line and somatic cells contain a mutation or chromosomal abnormality. It occurs in…”
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Short Report: The presence of germ line mosaicism in cleidocranial dysplasia by Pal, T, Napierala, D, Becker, T A, Loscalzo, M, Baldridge, D, Lee, B, Sutphen, R

“…Cleidocranial dysplasia (CCD) is typically an autosomal dominant condition. The possibility of alternative causes, such as an autosomal recessive form or germ…”
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Characterization of a New Syndrome That Associates Craniosynostosis, Delayed Fontanel Closure, Parietal Foramina, Imperforate Anus, and Skin Eruption: CDAGS by Mendoza-Londono, Roberto, Lammer, Edward, Watson, Rosemarie, Harper, John, Hatamochi, Atsushi, Hatamochi-Hayashi, Saori, Napierala, Dobrawa, Hermanns, Pia, Collins, Sinead, Roa, Benjamin B., Hedge, Madhuri R., Wakui, Keiko, Nguyen, Diep, Stockton, David W., Lee, Brendan

“…We describe the clinical characterization, molecular analyses, and genetic mapping of a distinct genetic condition characterized by craniosynostosis, delayed…”
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Amylose–dye complexes in cationic micelles: an optical spectroscopy study by Polewski, Krzysztof, Napierała, Danuta

“…The formation of amylose complexes with rose bengal (RB), erythrosine B (ER), and phenolphthalein (PP) in the presence of the cationic detergent…”
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Homology of DNA sequences encompassing malignant hyperthermia mutation site in the ovine (Ovis aries) and porcine (Sus scrofa) ryr1 gene by Gronek, P, Napierala, D, Nuc, K, Steppa, R, Plawski, A, Slomski, R

“…The PCR products of ryr1 gene amplified from genomic DNA of Sus scrofa and synthetic prolific lines of Ovis aries were analysed. The polymerase chain…”
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Crane-Heise syndrome: A second familial case report with elaboration of phenotype by Zand, Dina J., Carpentieri, David, Huff, Dale, Medne, Livija, Napierala, Dobrawa, Lee, Brendan, Zackai, Elaine

“…The constellation of features in Crane‐Heise syndrome (CHS) includes 1) poorly mineralized calvarium, 2) characteristic facial anomalies, and 3) extracranial…”
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Regulation of human DMD gene expression. An example of multiple utilization of genetic information by Napierała, D, Słomski, R

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Ovarian Endometrioma in an 11-Year-Old Girl before Menarche: A Case Study with Literature Review by Gogacz, M., MD, PhD, Sarzyński, M., MD, Napierała, R., MD, Sierocińska-Sawa, J., MD, PhD, Semczuk, A., MD, PhD

“…Abstract Background To date, a limited number of endometriosis cases occurring before or around the time of menarche have been documented. Case An 11-year-old…”
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