Results 51 to 60 of about 1,645,811 (308)

Pathogenic Germline PALB2 and RAD50 Variants in Patients With Relapsed Ewing Sarcoma

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Approximately 10% of patients with Ewing sarcoma (EwS) have pathogenic germline variants. Here, we report two cases: first, a novel germline pathogenic variant in partner and localizer of BRCA2 (PALB2) in a patient with a late EwS relapse. Its impact on homologous recombination is demonstrated, and breast cancer risk is discussed.
Molly Mack, A. Carolina Tufino, Mohd Azrin Jamalruddin, Sreya Dey, Yinghong Pan, Elina Mukherjee, Jessica D. Daley, Julia Meade, Mahmoud Aarabi, Lisa Maurer, James Cooper, Kara A. Bernstein, Kelly M. Bailey   +12 more
wiley   +1 more source

Conflation of Short Identity-by-Descent Segments Bias Their Inferred Length Distribution

G3: Genes, Genomes, Genetics, 2016
Identity-by-descent (IBD) is a fundamental concept in genetics with many applications. In a common definition, two haplotypes are said to share an IBD segment if that segment is inherited from a recent shared common ancestor without intervening ...
Charleston W. K. Chiang, Peter Ralph, John Novembre   +2 more
doaj   +1 more source

Increasing power for voxel-wise genome-wide association studies : the random field theory, least square kernel machines and fast permutation procedures [PDF]

, 2012
Imaging traits are thought to have more direct links to genetic variation than diagnostic measures based on cognitive or clinical assessments and provide a powerful substrate to examine the influence of genetics on human brains. Although imaging genetics
Feng, Jianfeng, Ge, Tian, Hibar, Derrek P., Nichols, Thomas E., Thompson, Paul M.   +4 more
core   +1 more source

Patient‐Level Barriers and Facilitators to Inpatient Physical Therapy in Adolescents and Young Adults With a Hematological Malignancy: A Qualitative Study

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Despite their increased risk for functional impairment resulting from cancer and its treatments, few adolescents and young adults (AYAs) with a hematological malignancy receive the recommended or therapeutic dose of exercise per week during inpatient hospitalizations.
Jennifer A. Kelleher, Jennifer L. Bernstein, Katia M. Crisler, Julia K. Herriott, Kimberly L. Klages, Robin E. Norris, Mariann L. Strenk, Sarah E. Bills, Meghan E. McGrady   +8 more
wiley   +1 more source

Revealing the structure of land plant photosystem II: the journey from negative‐stain EM to cryo‐EM

FEBS Letters, EarlyView.
Advances in cryo‐EM have revealed the detailed structure of Photosystem II, a key protein complex driving photosynthesis. This review traces the journey from early low‐resolution images to high‐resolution models, highlighting how these discoveries deepen our understanding of light harvesting and energy conversion in plants.
Roman Kouřil
wiley   +1 more source

Burden of Mendelian disorders in a large Middle Eastern biobank

Genome Medicine
Background Genome sequencing of large biobanks from under-represented ancestries provides a valuable resource for the interrogation of Mendelian disease burden at world population level, complementing small-scale familial studies.
Waleed Aamer, Aljazi Al-Maraghi, Najeeb Syed, Geethanjali Devadoss Gandhi, Elbay Aliyev, Alya A. Al-Kurbi, Omayma Al-Saei, Muhammad Kohailan, Navaneethakrishnan Krishnamoorthy, Sasirekha Palaniswamy, Khulod Al-Malki, Saleha Abbasi, Nourhen Agrebi, Fatemeh Abbaszadeh, Ammira S. Al-Shabeeb Akil, Ramin Badii, Tawfeg Ben-Omran, Bernice Lo, The Qatar Genome Program Research Consortium, Younes Mokrab, Khalid A. Fakhro   +20 more
doaj   +1 more source

Case Report: Identification of a Novel Heterozygous Missense Mutation in COL4A3 Gene Causing Variable Phenotypes in an Autosomal-Dominant Alport Syndrome Family

Frontiers in Genetics, 2022
Alport syndrome (AS) is a genetic kidney disease of basement membrane collagen disorder accounting for approximately 2% of ESRD patients. Next-generation and whole-exome sequencing methods are increasingly frequently used as an efficient tool not only ...
Yanglin Hu, Wei Li, Lulu Tian, Shuai Fu, Yonglong Min, Jia Liu, Fei Xiong   +6 more
doaj   +1 more source

The interface between assisted reproductive technologies and genetics: technical, social, ethical and legal issues [PDF]

, 2006
The interface between assisted reproductive technologies (ART) and genetics comprises several sensitive and important issues that affect infertile couples, families with severe genetic diseases, potential children, professionals in ART and genetics ...
ANASTASIADOU V, AYMÉ S, BRAGA S, CORNEL M, COVIELLO, DOMENICO, ESHG, ESHRE, EVERS KIEBOOMS G, GERAEDTS J, GIANAROLI L, HARPER J, IBARRETA D, KÄÄRIÄINEN H, KOSZTOLANYI G, LUNDIN K, RODRIGUES CEREZO E, SEQUEIROS J, SERMON K, SOINI S, TRANEBJAERG L   +18 more
core   +1 more source

Mapping the evolution of mitochondrial complex I through structural variation

FEBS Letters, EarlyView.
Respiratory complex I (CI) is crucial for bioenergetic metabolism in many prokaryotes and eukaryotes. It is composed of a conserved set of core subunits and additional accessory subunits that vary depending on the organism. Here, we categorize CI subunits from available structures to map the evolution of CI across eukaryotes. Respiratory complex I (CI)
Dong‐Woo Shin, Tingting Chen, James A. Letts   +2 more
wiley   +1 more source

Resposta ao trabalho de Kent e Santos: "'Os charruas vivem' nos Gaúchos: a vida social de uma pesquisa de 'resgate' genético de uma etnia indígena extinta no Sul do Brasil"

Horizontes Antropológicos, 2012
As atividades oriundas de ações humanas, incluindo pesquisas científicas, são estruturadas sob contextos individuais e coletivos. A artigo de Kent e Santos considera isso num cenário específico, mas ao descreverem tal fato eles também dão margem a ações ...
Maria Cátira Bortolini
doaj   +1 more source