Results 51 to 60 of about 81,851 (305)

Asymmetric Evolution of Antennal Cell Types Underlies a Derived Ammonia‐Sensing Logic for Ecological Adaptation in Bactrocera dorsalis

Advanced Science, EarlyView.
Comparative antennal single‐nucleus transcriptomics reveals cell‐type‐dependent transcriptomic divergence in Bactrocera dorsalis, with similar structural cells but divergent sensory neurons. This neuronal diversification is associated with a distinct ammonia‐sensing pathway, linking female attraction to bird‐dropping‐associated cues with nutritional ...
Wei Liu, Shuai Zhang, Jie Zhang, Zhen Tian, Yuanbo Xue, Ling Yang, Jun Xu, Guirong Wang   +7 more
wiley   +1 more source

Spinal muscular atrophy carrier couple with normal child: Demonstrating Mendelian inheritance patterns [PDF]

Journal of Krishna Institute of Medical Sciences University
Spinal Muscular Atrophy (SMA) is an autosomal recessive neuromuscular disorder caused by mutations in the SMN1 gene, with a carrier frequency of approximately 1 in 40-60 individuals.
Anwita Shinde, Shradha Salunkhe, Shailaja Mane, Mahathi Reddy, Shruti Gaonkar, Adarsh Sahu   +5 more
doaj  

Heterozygosity in NPC may be associated with neurologic and systemic phenotypes

Frontiers in Neurology
BackgroundNiemann-Pick disease type C (NPC) is a pan-ethnic, progressive, recessively inherited lysosomal disorder that affects 1:100,000 live births.
Tatiana Brémovà-Ertl, Sabina Tahirovic, Silva Katušić Hećimović, Kyriakos Martakis, Kyriakos Martakis, Marianne Rohrbach, Matthias Gautschi, Radhika Dhamija, Jaya Ganesh, Melinda Peters, Mark Walterfang, Susanne A. Schneider   +11 more
doaj   +1 more source

A novel compound heterozygous of β-thalassemia with HbG-Coushatta: case report of Iran

Human Genome Variation, 2023
A 30-year-old male couple from Ardabil city, Iran, were admitted for premarital screening. An abnormal band in HbS/D regions with high levels of HbF and HbA 2 led us to suspect the possibility of a compound heterozygous state of β-thalassemia in our ...
Narges Soozangar, Ehsan Abbaspour, Haleh Mokaber, Zahra Nematollahi, Behzad Davarnia   +4 more
doaj   +1 more source

Expanding the Utility of Exome Sequencing in Preventive and Population Genetics

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Carrier screening is a long‐standing genetic testing process offered to at‐risk couples, with or without a family history, who might have pregnancies affected by an autosomal recessive (AR) or X‐linked (XL) disorder. A total of 276 unrelated individuals, initially referred for rare disorder screening by clinicians, were enrolled in this study ...
Charilaos Kostoulas, Athanasia Sesse, Ioanna Bouba, Robert Najdecki, Spyridon Konitsiotis, Sofia Markoula, Ioannis Georgiou   +6 more
wiley   +1 more source

Distribution of progeny obtained from intercrossing Gata4 G295S heterozygote mice.

, 2012
Distribution of progeny obtained from intercrossing Gata4 G295S heterozygote mice.
Nita Sachan (165520), Anuradha Guggilam (165538), Pamela A. Lucchesi (165544), Caryn Rothrock McNally (165524), William T. Pu (165549), Sara N. Koenig (165527), Chaitali Misra (165517), Deepak Srivastava (165553), Vidu Garg (165556), Haley A. Nichols (165533)   +9 more
core   +1 more source

Hyperabsorption and retention of campestanol in a sitosterolemic homozygote: comparison with her mother and three control subjects

Journal of Lipid Research, 2000
We measured the percent absorption, turnover, and distribution of campestanol (24-methyl-5α-cholestan-3β-ol) in a sitosterolemic homozygote, her obligate heterozygous mother, and three healthy human control subjects.
Gerald Salen, Guorong Xu, G.S. Tint, A.K. Batta, Sarah Shefer   +4 more
doaj   +1 more source

Novel Mutations in the GTPBP3 Gene for Mitochondrial Disease and Characteristics of Related Phenotypic Spectrum: The First Three Cases From China

Frontiers in Genetics, 2021
Combined Oxidative Phosphorylation Deficiency 23 (COXPD23) caused by mutations in GTPBP3 gene is a rare mitochondrial disease, and this disorder identified from the Chinese population has not been described thus far.
Hui-ming Yan, Hui-ming Yan, Hui-ming Yan, Zhi-mei Liu, Bei Cao, Victor Wei Zhang, Victor Wei Zhang, Yi-duo He, Zheng-jun Jia, Zheng-jun Jia, Zheng-jun Jia, Hui Xi, Hui Xi, Hui Xi, Jing Liu, Jing Liu, Jing Liu, Fang Fang, Hua Wang, Hua Wang, Hua Wang   +20 more
doaj   +1 more source

Severe Phenotype in an Indian Family With Progressive Pseudorheumatoid Arthropathy of Childhood

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Progressive pseudorheumatoid arthropathy of childhood (PPAC) is a rare autosomal recessive progressive condition that affects the cartilage of joints and bones. The symptoms of PPAC include stiffness of the joints, bony swelling of the toes and fingers, short stature, kyphosis, and muscle weakness.
Narinder Singh, Arpita Neogi, Liliane H. Gibbs, Jagdish Soni, Elizabeth Chao, Virginia Kimonis   +5 more
wiley   +1 more source

Sensitivity analysis for the rs1051730 heterozygote genotype (CT vs CC).

, 2014
Sensitivity analysis for the rs1051730 heterozygote genotype (CT vs CC).
Xiaoyan Ge (263227), Kai Cui (239147), Honglin Ma (602505)   +2 more
core   +1 more source