Results 71 to 80 of about 2,695 (146)

Exploring the diverse clinical and variant spectrum of CEP78‐associated syndrome: Novel pathogenic variants identified in a case series

American Journal of Medical Genetics Part A, Volume 194, Issue 10, October 2024.
Abstract Dual sensory impairment, commonly referred to as combined hearing and vision loss, can stem from a diverse spectrum of conditions, each presenting with its unique set of clinical characteristics. Our understanding of dual sensory impairment has expanded significantly in the past decade, broadening the scope of genetic differential diagnoses ...
Yi Zhai, Brian G. Ballios
wiley   +1 more source

Temporal endogenous gene expression profiles in response to lipid-mediated transfection [PDF]

, 2015
Background — Design of efficient nonviral gene delivery systems is limited as a result of the rudimentary understanding of the specific molecules and processes that facilitate DNA transfer. Methods — Lipoplexes formed with Lipofectamine 2000 (LF2000) and
Martin, Timothy M., Pannier, Angela K., Plautz, Sarah A.   +2 more
core   +2 more sources

Effect of Combined Drug Therapy and Genetic Modifiers on Hepatosteatosis and Fibrosis in a Mouse Model for Alström Syndrome [PDF]

, 2011
Alström Syndrome (ALMS) is a genetic disorder characterized by obesity, progressive hearing and vision loss, and insulin resistance in humans. Variability of additional phenotypes exists among patients, often complicating diagnosis of ALMS (Marshall et ...
Hanusek, Ryan
core   +1 more source

Clinical phenotypes of adults with monogenic and syndromic genetic obesity

Obesity, Volume 32, Issue 7, Page 1257-1267, July 2024.
Abstract Objective Considering limited evidence on diagnostics of genetic obesity in adults, we evaluated phenotypes of adults with genetic obesity. Additionally, we assessed the applicability of Endocrine Society (ES) recommendations for genetic testing in pediatric obesity.
Mila S. Welling, Mostafa Mohseni, Renate E. H. Meeusen, Cornelis J. de Groot, Mariëtte R. Boon, Lotte Kleinendorst, Jenny A. Visser, Mieke M. van Haelst, Erica L. T. van den Akker, Elisabeth F. C. van Rossum   +9 more
wiley   +1 more source

Histologic transformation of non‐small‐cell lung cancer in response to tyrosine kinase inhibitors: Current knowledge of genetic changes and molecular mechanisms

Cancer Science, Volume 115, Issue 7, Page 2138-2146, July 2024.
Non‐small‐cell lung cancer (NSCLC) harboring actionable driver mutations is generally treated with tyrosine kinase inhibitors (TKIs) molecularly targeting individual oncogenes, but acquired resistance to them inevitably occurs. Histologic or lineage transformation is a rare but well‐documented off‐target mechanism associated with acquired resistance ...
Aya Shiba‐Ishii, Noriko Takemura, Hitomi Kawai, Daisuke Matsubara   +3 more
wiley   +1 more source

Cardiac magnetic resonance imaging in Alström syndrome [PDF]

, 2009
Background A case series of the cardiac magnetic resonance imaging findings in seven adult Alström patients. Methods Seven patients from the National Specialist Commissioning Group Centre for Alström Disease, Torbay, England, UK, completed the cardiac ...
A Toulany, AM Maceira, AN Makaryus, Catherine M Carey, CH Alström, F Grothues, F Grothues, GB Collin, J Bond, JA Minton, JD Marshall, JD Marshall, Margaret A Loudon, MJ Ricciardi, NG Bellenger, NG Bellenger, NG Bellenger, NG Bellenger, Nicholas G Bellenger, RB Paisey, RB Paisey, Richard B Paisey, RJ Kim, T Hearn   +23 more
core   +3 more sources

Adaptive failure to high-fat diet characterizes steatohepatitis in Alms1 mutant mice

Biochemical and Biophysical Research Communications, 2006
The biochemical differences between simple steatosis, a benign liver disease, and non-alcoholic steatohepatitis, which leads to cirrhosis, are unclear. Fat aussie is an obese mouse strain with a truncating mutation (foz) in the Alms1 gene. Chow-fed female foz/foz mice develop obesity, diabetes, and simple steatosis.
Arsov, Todor, Larter, Claire, Nolan, Christopher, Petrovsky, Nikolai, Goodnow, Christopher, Teoh, Narcissus, Yeh, Matthew, Farrell, Geoffrey   +7 more
openaire   +3 more sources

Positional Identification of Hypertension Susceptibility Genes on Chromosome 2 [PDF]

, 2004
Chromosome 2 has been consistently identified as a genomic region with genetic linkage evidence suggesting that one or more loci contributes to blood pressure and hypertension status.
Barkley, Ruth Ann, Boerwinkle, Eric, Chakravarti, Aravinda, Cooper, Richard S., Ellison, R. Curtis, Hunt, Steven C., Province, Michael A., Turner, Stephen T., Weder, Alan B.   +8 more
core   +2 more sources

Cilia and Obesity [PDF]

, 2017
The ciliopathies Bardet-Biedl syndrome and Alström syndrome cause obesity. How ciliary dysfunction leads to obesity has remained mysterious, partly because of a lack of understanding of the physiological roles of primary cilia in the organs and pathways ...
Berbari, Nicolas F., Reiter, Jeremy F., Vaisse, Christian   +2 more
core   +1 more source

Charakterisierung von ALMS1 (Alstrom syndrome 1)-Transkripten in Hodgkin-Lymphom-Zellen [PDF]

, 2017
Das ALMS1 (Alstrom syndrome 1)-Gen zählt zu den größten bekannten krankheitsassoziierten Genen des menschlichen Genoms und ist an Zellzykluskontrolle, Ziliogenese, Recycling von Endosomen und intrazellulären Transportmechanismen beteiligt. Mutationen in ALMS1 sind pathogen für das Alström-Syndrom, einer seltenen genetischen Multisystemerkrankung.
openaire   +2 more sources