Results 51 to 60 of about 78,400 (304)
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Long‐chain 3‐hydroxyacyl‐CoA dehydrogenase deficiency (LCHADD) is an autosomal recessive mitochondrial defect of long‐chain fatty acid β‐oxidation, caused by biallelic pathogenic variants in HADHA or HADHB. We report a 22‐year‐old male with an atypically mild presentation of LCHADD who was referred to the Undiagnosed Diseases Network (UDN ...
Yutaka Furuta +9 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 UniversitySpinal 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 +5 more
doaj
Heterozygosity in NPC may be associated with neurologic and systemic phenotypes
Frontiers in NeurologyBackgroundNiemann-Pick disease type C (NPC) is a pan-ethnic, progressive, recessively inherited lysosomal disorder that affects 1:100,000 live births.
Tatiana Brémovà-Ertl +11 more
doaj +1 more source
Red Queen Processes Drive Positive Selection on Major Histocompatibility Complex (MHC) Genes. [PDF]
PLoS Computational Biology, 2015 Major Histocompatibility Complex (MHC) genes code for proteins involved in the incitation of the adaptive immune response in vertebrates, which is achieved through binding oligopeptides (antigens) of pathogenic origin.
Maciej Jan Ejsmond, Jacek Radwan
doaj +1 more source
Heterozygote advantage can explain the extraordinary diversity of immune genes
, 2018 The majority of highly polymorphic genes are related to immune functions and with over 100 alleles within a population genes of the major histocompatibility complex (MHC) are the most polymorphic loci in vertebrates.
Claus Rueffler, Mattias Siljestam
core +1 more source
Unraveling a Diagnostic Enigma: A TECPR2 Case Solved Through Multi‐Omic Genomics
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT TECPR2 is a key regulator of autophagy, encoded by the TECPR2 gene. Pathogenic variants in this gene have been linked to a rare hereditary sensory and autonomic neuropathy with intellectual disability (HSAN9). We report a teenage female with a syndromic intellectual disability disorder associated with neuromuscular abnormalities.
Teresa Zhao +122 more
wiley +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 +6 more
wiley +1 more source
Heterozygote PCR product melting curve prediction [PDF]
, 2014 pre-printMelting curve prediction of PCR products is limited to perfectly complementary strands. Multiple domains are calculated by recursive nearest-neighbor thermodynamics.
Dwight, Zachary Lawrence +1 more
core
Sensitivity analysis for the rs1051730 heterozygote genotype (CT vs CC).
, 2014 Sensitivity analysis for the rs1051730 heterozygote genotype (CT vs CC).
Xiaoyan Ge (263227) +2 more
core +1 more source
Zebrafish and CRISPR—A synergistic approach to decipher and cure human diseases
Animal Models and Experimental Medicine, EarlyView.Zebrafish, with high genetic homology to humans, serves as a powerful vertebrate model for disease modeling and drug discovery. Integration of CRISPR/Cas9 technology enables precise genome editing, facilitating the development of translational models for human diseases.
Manikandan Sivaprakasam +4 more
wiley +1 more source