نتایج جستجو برای: cartilage hair hypoplasia

تعداد نتایج: 77284  

2016
Sushma Malik Mani Singhal Shruti Sudhir Jadhav Charusheela Sujit Korday Chitra Shivanand Nayak

BACKGROUND Hirschsprung's disease is one of the commonest causes of intestinal obstruction in neonates because of gut motility disorder. It is characterized as a complex genetic heterogenous disorder with variable inheritance. Hirschsprung's disease occurs as an isolated phenotype in majority (70 %) of cases. In other cases it may be associated with syndromes (such as Down's syndrome, Waardenbu...

2015
Zakia A. Abdelhamed Subaashini Natarajan Gabrielle Wheway Christopher F. Inglehearn Carmel Toomes Colin A. Johnson Daniel J. Jagger

Ciliopathies are a group of developmental disorders that manifest with multi-organ anomalies. Mutations in TMEM67 (MKS3) cause a range of human ciliopathies, including Meckel-Gruber and Joubert syndromes. In this study we describe multi-organ developmental abnormalities in the Tmem67 knockout mouse that closely resemble those seen in Wnt5a and Ror2 knockout mice. These include pulmonary hypopla...

Journal: :The Journal of the Association of Physicians of India 2012
R Karoli J Fatima Gagandeep Singh Sumit Maini

without significant bone anomalies was unlikely as child did not have affected relatives. There are wide variety of congenital or hereditary disorders in which there is total or partial absence of nails. These disorders are usually associated with other major congenital anomalies. Fetal phenytoin syndrome occurs approximately 7 to 10% of all babies exposed to phenytoin during pregnancy. The fea...

2015
Zakia A. Abdelhamed Subaashini Natarajan Gabrielle Wheway Christopher F. Inglehearn Carmel Toomes Colin A. Johnson Daniel J. Jagger

Ciliopathies are a group of developmental disorders that manifest with multi-organ anomalies. Mutations in TMEM67 (MKS3) cause a range of human ciliopathies, including Meckel-Gruber and Joubert syndromes. In this study we describe multi-organ developmental abnormalities in the Tmem67(tm1Dgen/H1) knockout mouse that closely resemble those seen in Wnt5a and Ror2 knockout mice. These include pulmo...

Journal: :American journal of physiology. Regulatory, integrative and comparative physiology 2008
Yee-Hsee Hsieh Thomas E Dick Ruth E Siegel

Survival in low-oxygen environments requires adaptation of sympathorespiratory control networks located in the brain stem. The molecular mechanisms underlying adaptation are unclear. In naïve animals, acute hypoxia evokes increases in phrenic (respiratory) and splanchnic (sympathetic) nerve activities that persist after repeated challenges (long-term facilitation, LTF). In contrast, our studies...

2013
Janikua Nelson-Mora Julio Prieto-Sagredo Rosaura Loredo-Ranjel María Luisa Fanjul-Moles

Crustacean hyperglycemic hormone (CHH) synthesizing cells in the optic lobe, one of the pacemakers of the circadian system, have been shown to be present in crayfish. However, the presence of CHH in the central brain, another putative pacemaker of the multi-oscillatory circadian system, of this decapod and its circadian transcription in the optic lobe and brain have yet to be explored. Therefor...

2011
Felix Krueger Simon R. Andrews

SUMMARY A combination of bisulfite treatment of DNA and high-throughput sequencing (BS-Seq) can capture a snapshot of a cell's epigenomic state by revealing its genome-wide cytosine methylation at single base resolution. Bismark is a flexible tool for the time-efficient analysis of BS-Seq data which performs both read mapping and methylation calling in a single convenient step. Its output discr...

2018
Daniele Cassatella Sasha R Howard James S Acierno Cheng Xu Georgios E Papadakis Federico A Santoni Andrew A Dwyer Sara Santini Gerasimos P Sykiotis Caroline Chambion Jenny Meylan Laura Marino Lucie Favre Jiankang Li Xuanzhu Liu Jianguo Zhang Pierre-Marc Bouloux Christian De Geyter Anne De Paepe Waljit S Dhillo Jean-Marc Ferrara Michael Hauschild Mariarosaria Lang-Muritano Johannes R Lemke Christa Flück Attila Nemeth Franziska Phan-Hug Duarte Pignatelli Vera Popovic Sandra Pekic Richard Quinton Gabor Szinnai Dagmar l’Allemand Daniel Konrad Saba Sharif Özlem Turhan Iyidir Brian J Stevenson Huanming Yang Leo Dunkel Nelly Pitteloud

OBJECTIVE Congenital hypogonadotropic hypogonadism (CHH) and constitutional delay of growth and puberty (CDGP) represent rare and common forms of GnRH deficiency, respectively. Both CDGP and CHH present with delayed puberty, and the distinction between these two entities during early adolescence is challenging. More than 30 genes have been implicated in CHH, while the genetic basis of CDGP is p...

2017
Andrzej T. Wierzbicki Ross Cocklin Anoop Mayampurath Ryan Lister M. J. Rowley Brian D. Gregory Joseph R. Ecker Haixu Tang Craig S. Pikaard

Multisubunit RNA polymerases IV and V (Pols IV and V) mediate RNA-directed DNA methylation and transcriptional silencing of retrotransposons and heterochromatic repeats in plants. We identified genomic sites of Pol V occupancy in parallel with siRNA deep sequencing and methylcytosine mapping, comparing wild-type plants with mutants defective for Pol IV, Pol V, or both Pols IV and V. Approximate...

نمودار تعداد نتایج جستجو در هر سال

با کلیک روی نمودار نتایج را به سال انتشار فیلتر کنید