Results 291 to 300 of about 241,061 (333)

Missense mutation of angiotensin converting enzyme gene in an Alzheimer's disease patient: a case report. [PDF]

Front Neurosci
He M, Zhang F, Qi J, Zhang W.
europepmc   +1 more source

Characterization of two arylsulfatase A missense mutations D335V and T274M causing late infantile metachromatic leukodystrophy

, 1996
Barbara Heß, Sabine Kafert, Uwe Heinisch, David A. Wenger, Joël Zlotogora, Volkmar Gieselmann   +5 more
openalex   +1 more source

Human asthenozoospermia: Update on genetic causes, patient management, and clinical strategies

Andrology, EarlyView.
Abstract Background In mammals, sperm fertilization potential relies on efficient progression within the female genital tract to reach and fertilize the oocyte. This fundamental property is supported by the flagellum, an evolutionarily conserved organelle, which contains dynein motor proteins that provide the mechanical force for sperm propulsion and ...
Emma Cavarocchi, Maëva Drouault, Joao C. Ribeiro, Violaine Simon, Marjorie Whitfield, Aminata Touré   +5 more
wiley   +1 more source

Missense mutation of NRAS is associated with malignant progression in neurocutaneous melanosis. [PDF]

Acta Neuropathol Commun
Takahashi H, Natsumeda M, Hara N, Koyama A, Shimizu H, Miyashita A, Satake D, Mouri Y, Tsukano J, Kawabe K, Tsukamoto Y, Okada M, Ogura R, Yuki A, Umezu H, Kakita A, Ikeuchi T, Oishi M.   +17 more
europepmc   +1 more source

Folding, misfolding, and regulation of intracellular traffic of G protein‐coupled receptors involved in the hypothalamic–pituitary–gonadal axis

Andrology, EarlyView.
Abstract Background G protein‐coupled receptors are a large and functionally diverse family of membrane receptors involved in a number of biological processes. Like other proteins, G protein‐coupled receptors need to be properly folded in order to traffic to the plasma membrane and interact with agonist.
Alfredo Ulloa‐Aguirre, Ross C. Anderson, Teresa Zariñán, Rubén Gutiérrez‐Sagal, Eduardo Jardón‐Valadez, Claire L. Newton   +5 more
wiley   +1 more source

Genetic evidence for predisposition to acute leukemias due to a missense mutation (p.Ser518Arg) in ZAP70 kinase: a case-control study. [PDF]

BMC Med Genomics
Khashei Varnamkhasti K, Khashei Varnamkhasti S, Shahrouzian A, Rahimzadeh M, Naeimi L, Naeimi B, Naeimi S.   +6 more
europepmc   +1 more source

Gonadal function in males with WFS1 spectrum disorder (Wolfram syndrome)—A European cohort perspective

Andrology, EarlyView.
Abstract Background WFS1 spectrum disorder, also known as Wolfram syndrome (WS) is an ultra‐rare (<1:500,000; ORPHA: 3463) monogenic (OMIM #222300) progressive neuroendocrine and neurodegenerative disorder, characterised by early‐onset insulin‐dependent diabetes, optic atrophy, central diabetes insipidus and sensi‐neuronal deafness.
Julia Rohayem, Olivia Cunningham, Denise Williams, Joachim Wistuba, Liam McCarthy, Timothy G. Barrett, Renuka P. Dias   +6 more
wiley   +1 more source

De novo variants in congenital diaphragmatic hernia identify MYRF as a new syndrome and reveal genetic overlaps with other developmental disorders [PDF]

, 2018
et al.,, Warner, Brad W
core   +1 more source

Molecular and cellular mechanisms underlying gyrate atrophy: Why is the retina primarily affected?

Acta Ophthalmologica, EarlyView.
Abstract Gyrate atrophy of the choroid and retina (GACR; OMIM #258870) is a rare early‐onset autosomal recessive disorder, caused by bi‐allelic pathogenic variants in the gene coding for ornithine aminotransferase (OAT) resulting in hyperornithinaemia.
Mark J. N. Buijs, Berith M. Balfoort, Marion M. Brands, Anneloor L. M. A. ten Asbroek, Camiel J. F. Boon, Roselie M. H. Diederen, Corrie Timmer, Margreet A. E. M. Wagenmakers, Hans R. Waterham, Ronald J. A. Wanders, Riekelt H. Houtkooper, Clara D. van Karnebeek, Arthur A. Bergen   +12 more
wiley   +1 more source

Case Report: Two different acromelic dysplasia phenotypes in a Chinese family caused by a missense mutation in FBN1 and a literature review. [PDF]

Front Pediatr
Tian F, Dong X, Yuan R, Hou X, Qing J, Li Y.   +5 more
europepmc   +1 more source