Results 241 to 250 of about 19,235 (265)

The power of many: when genetics met yeasts and high‐throughput

Biological Reviews, EarlyView.
ABSTRACT In recent years, complex technological capabilities have evolved, driven by the need to solve complex and integrative biological questions through global analyses. New equipment allows the scaling up and automation of processes which previously were carried out on a very limited scale.
Víctor A. Tallada, Víctor Carranco
wiley   +1 more source

Periodontitis treatment and microbiome in a patient with FAM20A mutation: Case study of 1.5 years

Clinical Advances in Periodontics, EarlyView.
Abstract Background Enamel‐renal‐gingival syndrome (ERGS) is an autosomal recessive disorder caused by mutations in the FAMily with sequence similarity 20A (FAM20A) gene, and is characterized by amelogenesis imperfecta, delayed or failed tooth eruption, and periodontitis.
John Rong Hao Tay, Preethi Balan, Chaminda Jayampath Seneviratne   +2 more
wiley   +1 more source

PEK14: A Kinesin‐4 Necessary for Male‐Derived Fertility in Arabidopsis thaliana

Cytoskeleton, EarlyView.
ABSTRACT Of the 61 kinesins annotated in Arabidopsis thaliana, many are still without assigned function. Here, we have screened an insertional mutant library of Arabidopsis pollen‐expressed kinesins for fertility defects. Insertional mutants for three kinesins showed a significant reduction in seed set.
Isabella N. Mendes, Norman R. Groves, Jessica Z. Li, Lily N. Thompson, Brian J. Smith, Aman Y. Husbands, Iris Meier   +6 more
wiley   +1 more source

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TREM2 Gene Compound Heterozygosity in Neurodegenerative Disorders

Journal of Alzheimer's Disease, 2022
Background: Homozygous variants of the TREM2 and TYROBP genes have been shown to be causative for multiple bone cysts and neurodegeneration leading to progressive dementia (NHD, Nasu-Hakola disease). Objective: To determine if biallelic variants of these genes and/or oligogenic inheritance could be responsible for a wider spectrum of neurodegenerative ...
Berdyński , B., Ludwiczak, J. ; https://orcid.org/0000-0002-3487-5433, Barczak, A., Barcikowska-Kotowicz, M., Kuźma-Kozakiewicz, M., Dunin-Horkawicz, S. ; https://orcid.org/0000-0002-4581-1558, Żekanowski, C., Borzemska, B.   +7 more
openaire   +3 more sources

Compound Heterozygosity at the FMR1 Gene

Genetic Testing, 2001
Individuals affected with Fragile X syndrome are usually characterized at the DNA level by the presence of at least 200 CGG repeats in the 5' untranslated region of the FMR1 gene; this number of repeats is defined as a full mutation. Repeats that number 50-200 usually define those with premutations and are termed unaffected carriers.
Hegde, MR, Fawkner, M, Chong, B, McGaughran, J, Gilbert, D, Love, DR   +5 more
openaire   +3 more sources

Compound heterozygosity in GPR56 with bilateral frontoparietal polymicrogyria

Brain and Development, 2014
Polymicrogyria is caused by a diverse etiology, one of which is gene mutation. At present, only one gene (GPR56) is known to cause polymicrogyria, which leads to a distinctive phenotype termed bilateral frontoparietal polymicrogyria (BFPP). BFPP is an autosomal recessive inherited human brain malformation with abnormal cortical lamination.
Yuji, Fujii, Nobutsune, Ishikawa, Yoshiyuki, Kobayashi, Masao, Kobayashi, Mitsuhiro, Kato   +4 more
openaire   +2 more sources

Compound heterozygosity for GDF5 in Du Pan type chondrodysplasia

American Journal of Medical Genetics Part A, 2008
AbstractDu Pan type chondrodysplasia (DPC) represents the milder end of homozygous growth differentiation factor 5 (GDF5) disorders. We report on a 20‐month‐old child with complex brachydactyly and mild proximal fibular hypoplasia, consistent with DPC, in the absence of other anomalies of long bones and joints.
Douzgou, S., Lehmann, K., Mingarelli, R., Mundlos, S., Dallapiccola, B.   +4 more
openaire   +3 more sources

Compound Heterozygosity for Hemoglobin C and Hemoglobin Korle-Bu

Laboratory Hematology, 2008
We describe a case of compound heterozygosity for hemoglobin C (beta6 Glu-->Lys) and hemoglobin Korle-Bu (beta73 Asp-->Asn). To our knowledge, this is the third case report of this unusual hemoglobin genotype, and the first to integrate data from cation exchange high-performance liquid chromatography, hemoglobin electrophoresis, and beta-globin gene ...
Catherine L, Kossover, James R, Eckman, Andrew N, Young   +2 more
openaire   +2 more sources

Two families with compound heterozygosity for adenine phosphoribosyltransferase deficiency

Pediatric Nephrology, 2010
Adenine phosphoribosyltransferase deficiency is a disorder in which 2,8-dihydroxyadenine (2,8-DHA) crystalluria is caused by a congenital deficiency in the enzyme adenine phosphoribosyltransferase (APRT). In most cases, APRT deficiency is caused by autosomal recessive inheritance of a homozygote of the mutant gene APRT*Q0 or APRT*J, but there are also ...
Takuma, Iwaki, Takashi, Kusaka, Ikuko, Ohashi, Tomoko, Nishida, Tadashi, Imai, Susumu, Itoh   +5 more
openaire   +2 more sources