Results 71 to 80 of about 4,953,128 (334)

ACMG SF v3.0 list for reporting of secondary findings in clinical exome and genome sequencing: a policy statement of the American College of Medical Genetics and Genomics (ACMG)

Genetics in Medicine, 2021
David T. Miller, Kristy Lee, W. Chung, A. Gordon, G. Herman, T. Klein, D. Stewart, L. Amendola, Kathy Adelman, S. Bale, M. Gollob, S. Harrison, R. E. Hershberger, K. Mckelvey, C. Richards, C. Vlangos, M. Watson, C. Martin   +17 more
semanticscholar   +1 more source

Plasmodium falciparum gametogenesis essential protein 1 (GEP1) is a transmission‐blocking target

FEBS Letters, EarlyView.
This study shows Plasmodium falciparum GEP1 is vital for activating sexual stages of malarial parasites even independently of a mosquito factor. Knockout parasites completely fail gamete formation even when a phosphodiesterase inhibitor is added. Two single‐nucleotide polymorphisms (V241L and S263P) are found in 12%–20% of field samples.
Frederik Huppertz, Milagros Siebeck Caturelli, Lina S. Lehmann, Florian Kurth, Alexander G. Maier, Kai Matuschewski   +5 more
wiley   +1 more source

75 year anniversary of E. I. Schwartz

Учёные записки Санкт-Петербургского государственного медицинского университета им. Акад. И.П. Павлова, 2014
This article is devoted to the 75 year anniversary of MD, professor, Eugene Schwartz. It represents the steps of his life and work, his scientific achievements. It shows the role of E. I. Schwartz in the development of molecular-genetic methods and their
S. N. Pchelina
doaj  

Smith–Lemli–Opitz Syndrome: Oral Characteristics and Risk Factors for Caries Development

Biomedicines
Background/Objectives: Smith–Lemli–Opitz syndrome is a metabolic autosomal recessive disease, characterized by congenital defects, with concomitant psychomotor developmental delay. The symptoms are variable and depend on the clinical form of the disease.
Dorota Olczak-Kowalczyk, Aneta Witt-Porczyk, Paula Piekoszewska-Ziętek, Małgorzata Krajewska-Walasek   +3 more
doaj   +1 more source

Co‐occurrence of breast cancer and neuroendocrine tumours: New genetic insights beyond Multiple Endocrine Neoplasia syndromes

Endocrinology, Diabetes & Metabolism, 2019
Objective Age‐standardized incidence of female breast cancer is 145.1 per 100000/year and 5.86 per 100000/year for neuroendocrine tumours (NET) in Canada. Evidence is scarce about gene variants that may predispose patients to develop both neoplasms.
Vincent Larouche, Amit Akirov, Emily Thain, Raymond H. Kim, Shereen Ezzat   +4 more
doaj   +1 more source

Medical Genetics in Peru

Public Health Genomics, 2004
Peru has a growing population characterized by notorious socioeconomic differences. The main health problems are acquired diseases related to sanitary conditions that affect mainly the large segment afflicted by poverty and extreme poverty. The state’s health policy does not contemplate any action on congenital or genetic conditions, and genetic ...
openaire   +3 more sources

Noninvasive prenatal screening (NIPS) for fetal chromosome abnormalities in a general-risk population: An evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG).

Genetics in Medicine, 2022
J. Dungan, S. Klugman, S. Darilek, J. Malinowski, Yassmine M N Akkari, K. Monaghan, Angelika L Erwin, R. Best   +7 more
semanticscholar   +1 more source

Linked dimers of the AAA+ ATPase Msp1 reveal energetic demands and mechanistic plasticity for substrate extraction from lipid bilayers

FEBS Letters, EarlyView.
Cells must clear mislocalized or faulty proteins from membranes to survive. The AAA+ ATPase Msp1 performs this task, but dissecting how its six subunits work together is challenging. We engineered linked dimers with varied numbers of functional subunits to reveal how Msp1 subunits cooperate and use energy to extract proteins from the lipid bilayer ...
Deepika Gaur, Brian Acquaviva, Baylee A. Smith, Nathan Walker, Isabella Walter, Matthew L. Wohlever   +5 more
wiley   +1 more source

Finger stick blood collection for gene expression profiling and storage of tempus blood RNA tubes [version 2; referees: 1 approved, 2 approved with reservations]

F1000Research, 2017
With this report we aim to make available a standard operating procedure (SOP) developed for RNA stabilization of small blood volumes collected via a finger stick.
Darawan Rinchai, Esperanza Anguiano, Phuong Nguyen, Damien Chaussabel   +3 more
doaj   +1 more source

Screening for autosomal recessive and X-linked conditions during pregnancy and preconception: a practice resource of the American College of Medical Genetics and Genomics (ACMG)

Genetics in Medicine, 2021
A. Gregg, M. Aarabi, S. Klugman, N. Leach, Michael T. Bashford, T. Goldwaser, E. Chen, T. Sparks, H. Reddi, A. Rajkovic, J. Dungan   +10 more
semanticscholar   +1 more source