Results 41 to 50 of about 911,821 (309)

Exploring Autosomal Dominant Non-Syndromic Monogenic Obesity: From Genes to Therapy

Current Issues in Molecular Biology
Genetic factors are key determinants in the pathophysiology of obesity, regulating energy homeostasis. Monogenic non-syndromic obesity accounts for 2–3% of obesity in both children and adults and is most often attributable to mutations in genes encoding ...
Giovanni Luppino, Mara Giordano, Francesca Franchina, Roberto Coco, Eleonora Inì, Carla Fazio, Debora Porri, Cecilia Lugarà, Domenico Corica, Tommaso Aversa, Malgorzata Wasniewska   +10 more
doaj   +1 more source

Differences in the evolutionary history of disease genes affected by dominant or recessive mutations

BMC Genomics, 2006
Background Global analyses of human disease genes by computational methods have yielded important advances in the understanding of human diseases. Generally these studies have treated the group of disease genes uniformly, thus ignoring the type of ...
Albà M Mar, Furney Simon J, López-Bigas Núria   +2 more
doaj   +1 more source

Ptosis as a unique hallmark for autosomal recessive WNT1-associated osteogenesis imperfecta [PDF]

, 2019
Osteogenesis imperfecta (OI) is a heritable connective tissue disorder, mainly characterized by bone fragility and low bone mass. Defects in the type I procollagen-encoding genes account for the majority of OI, but increasingly more rare autosomal ...
Elcioglu, Nursel, Guillemyn, Brecht, Jagadeesh, Sujatha, Malfait, Fransiska, Nampoothiri, Sheela, Suresh, Beena, Symoens, Sofie, Turan, Serap, Yesodharan, Dhanya   +8 more
core   +1 more source

Genetic variation in four maturity genes and photoperiod insensitivity effects on the yield components and on the growth duration periods of soybean

Regulatory Mechanisms in Biosystems, 2023
Soybean (Glycine max (L.) Merr.) is a typical short-day and thermophilic crop. Absence of or low sensitivity to photoperiod is necessary for short-day crops to adapt to high latitudes.
I. M. Raievska, A. S. Schogolev
doaj   +1 more source

Genes and Mutations Causing Autosomal Dominant Retinitis Pigmentosa [PDF]

Cold Spring Harbor Perspectives in Medicine, 2014
Retinitis pigmentosa (RP) has a prevalence of approximately one in 4000; 25%-30% of these cases are autosomal dominant retinitis pigmentosa (adRP). Like other forms of inherited retinal disease, adRP is exceptionally heterogeneous. Mutations in more than 25 genes are known to cause adRP, more than 1000 mutations have been reported in these genes ...
Stephen P, Daiger, Sara J, Bowne, Lori S, Sullivan   +2 more
openaire   +2 more sources

Dominant and Recessive Major R Genes Lead to Different Types of Host Cell Death During Resistance to Xanthomonas oryzae in Rice

Frontiers in Plant Science, 2018
The bacterial blight caused by Xanthomonas oryzae pv. oryzae (Xoo) is the most devastating bacterial disease of rice worldwide. A number of dominant major disease resistance (MR) genes and recessive MR genes against Xoo have been cloned and molecularly ...
Jianbo Cao, Jianbo Cao, Meng Zhang, Jinghua Xiao, Xianghua Li, Meng Yuan, Shiping Wang   +6 more
doaj   +1 more source

Characterising resistance to Turnip mosaic virus (TuMV) in Turnip (Brassica rapa rapa) [PDF]

, 2008
A Brassica rapa rapa L. line has been identified with high resistance to seven isolates of Turnip mosaic virus (TuMV) (including UK 1, CHN 5, CZE 1, CDN 1, GBR 6, POL 1 and UK 4) representing the major pathotypes of the virus.
Haj Kassem, Amin A., Walsh, John A.
core  

Missense-depleted regions in population exomes implicate ras superfamily nucleotide-binding protein alteration in patients with brain malformation. [PDF]

, 2016
Genomic sequence interpretation can miss clinically relevant missense variants for several reasons. Rare missense variants are numerous in the exome and difficult to prioritise. Affected genes may also not have existing disease association.
Dumas, Kevin, Ge, Xiaoyan, Gong, Henry, Grody, Wayne W, Hendriks, Yvonne, Kwok, Pui-Yan, Lee, Hane, Litwin, Jessica, Nelson, Stanley F, Phillips, Joanna J, Shieh, Joseph Tc, Stuurman, Kyra E, Waisfisz, Quinten, Weiss, Marjan M   +13 more
core   +2 more sources

Clinical Insights Into Hypercalcemia of Malignancy in Childhood

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Hypercalcemia of malignancy (HCM) is a rare but life‐threatening metabolic emergency in children that occurs in less than 1% of pediatric cancer cases, with a reported incidence ranging from 0.4% to 1.0% across different studies. While it is observed in 10%–20% of adult malignancies, pediatric HCM remains relatively uncommon.
Hüseyin Anıl Korkmaz
wiley   +1 more source

RNA Sequencing Reveals a Role of TonEBP Transcription Factor in Regulation of Pro-inflammatory Genes in Response to Hyperosmolarity in Healthy Nucleus Pulposus Cells: A HOMEOSTATIC RESPONSE? [PDF]

, 2016
Transcription factor tonicity-responsive enhancer-binding protein (TonEBP/NFAT5) is critical for osmo-adaptation and extracellular matrix homeostasis of nucleus pulposus (NP) cells in their hypertonic tissue niche.
Johnson, Zariel I., Risbud, Makarand V., Shapiro, Irving M.   +2 more
core   +2 more sources