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Dzip1L

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https://www.readbyqxmd.com/read/28736432/polycystic-kidney-disease-dzip1l-defines-a-new-functional-zip-code-for-autosomal-recessive-pkd
#1
Erum A Hartung, Lisa M Guay-Woodford
No abstract text is available yet for this article.
September 2017: Nature Reviews. Nephrology
https://www.readbyqxmd.com/read/28530676/mutations-in-dzip1l-which-encodes-a-ciliary-transition-zone-protein-cause-autosomal-recessive-polycystic-kidney-disease
#2
Hao Lu, Maria C Rondón Galeano, Elisabeth Ott, Geraldine Kaeslin, P Jaya Kausalya, Carina Kramer, Nadina Ortiz-Brüchle, Nadescha Hilger, Vicki Metzis, Milan Hiersche, Shang Yew Tay, Robert Tunningley, Shubha Vij, Andrew D Courtney, Belinda Whittle, Elke Wühl, Udo Vester, Björn Hartleben, Steffen Neuber, Valeska Frank, Melissa H Little, Daniel Epting, Peter Papathanasiou, Andrew C Perkins, Graham D Wright, Walter Hunziker, Heon Yung Gee, Edgar A Otto, Klaus Zerres, Friedhelm Hildebrandt, Sudipto Roy, Carol Wicking, Carsten Bergmann
Autosomal recessive polycystic kidney disease (ARPKD), usually considered to be a genetically homogeneous disease caused by mutations in PKHD1, has been associated with ciliary dysfunction. Here, we describe mutations in DZIP1L, which encodes DAZ interacting protein 1-like, in patients with ARPKD. We further validated these findings through loss-of-function studies in mice and zebrafish. DZIP1L localizes to centrioles and to the distal ends of basal bodies, and interacts with septin2, a protein implicated in maintenance of the periciliary diffusion barrier at the ciliary transition zone...
July 2017: Nature Genetics
https://www.readbyqxmd.com/read/27434957/-identification-of-a-new-diagnostic-markers-of-prostatic-cancer-using-noti-microchips
#3
S O Vozianov, V I Kashuba, V M Grygorenko, V V Gordiyuk, R O Danylets, Yu M Bondarenko, M V Vikarchuk
The biopsy material specimens were investigated in 33 patients, examined for the prostatic cancer suspicion. In accordance to the morphological investigation data, in 15 patients a benign prostatic hyperplasia was verified, and in 18--pancreatic adenocarcinoma. NotI-Microchips of 180 clones of the third chromosome were used for determination of epigenetic changes. In 50 genes of the third chromosome a high rate of the methylation state changes (from 33 to 82%) was noted. Some changed genes take part in cancerogenesis (HMGB1L5, LRRC58, GPR149, DZIP1L, C3orf77, NUDT16) and in the prostatic gland cancer occurrence (BCL6, ITGA9, FBLN2, SOX2, LRRC3B etc...
April 2016: Klinichna Khirurhiia
https://www.readbyqxmd.com/read/26872740/exome-sequencing-in-one-family-with-gastric-and-rectal-cancer
#4
Jessada Thutkawkorapin, Simone Picelli, Vinaykumar Kontham, Tao Liu, Daniel Nilsson, Annika Lindblom
BACKGROUND: Heritable factors are well known to increase the risk of cancer in families. Known susceptibility genes account for a small proportion of all colorectal cancer cases. The aim of this study was to identify the genetic background in a family suggested to segregate a dominant cancer syndrome with a high risk of rectal- and gastric cancer. We performed whole exome sequencing in three family members, 2 with rectal cancer and 1 with gastric cancer and followed it up in additional family members, other patients and controls...
February 13, 2016: BMC Genetics
https://www.readbyqxmd.com/read/19852954/the-zn-finger-protein-iguana-impacts-hedgehog-signaling-by-promoting-ciliogenesis
#5
Andrew M Glazer, Alex W Wilkinson, Chelsea B Backer, Sylvain W Lapan, Jennifer H Gutzman, Iain M Cheeseman, Peter W Reddien
Hedgehog signaling is critical for metazoan development and requires cilia for pathway activity. The gene iguana was discovered in zebrafish as required for Hedgehog signaling, and encodes a novel Zn finger protein. Planarians are flatworms with robust regenerative capacities and utilize epidermal cilia for locomotion. RNA interference of Smed-iguana in the planarian Schmidtea mediterranea caused cilia loss and failure to regenerate new cilia, but did not cause defects similar to those observed in hedgehog(RNAi) animals...
January 1, 2010: Developmental Biology
https://www.readbyqxmd.com/read/17089004/hedgehog-signaling-pathway-and-gastrointestinal-stem-cell-signaling-network-review
#6
REVIEW
Yuriko Katoh, Masaru Katoh
Hedgehog, BMP/TGFbeta, FGF, WNT and Notch signaling pathways constitute the stem cell signaling network, which plays a key role in a variety of processes, such as embryogenesis, maintenance of adult tissue homeostasis, tissue repair during chronic persistent inflammation, and carcinogenesis. Sonic hedgehog (SHH), Indian hedgehog (IHH) and Desert hedgehog (DHH) bind to PTCH1/PTCH or PTCH2 receptor to release Smoothened (SMO) signal transducer from Patched-dependent suppression. SMO then activates STK36 serine/threonine kinase to stabilize GLI family members and to phosphorylate SUFU for nuclear accumulation of GLI...
December 2006: International Journal of Molecular Medicine
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