Results 31 to 40 of about 1,225,648 (255)

What Is Autosomal Dominant Polycystic Kidney Disease?

, 2023
International audienceThis JAMA Patient Page describes autosomal dominant polycystic kidney disease, its signs and symptoms, diagnosis, and treatment ...
Alam, Ahsan, Ahsan Alam, Ronald D. Perrone, Cornec-Le Gall, Emilie, Perrone, Ronald, Emilie Cornec-Le Gall   +5 more
core   +1 more source

Genetics of Autosomal Dominant Partial Epilepsy with Auditory Features (ADPEAF)

Pediatric Neurology Briefs, 2008
Data from 24 previously published ADPEAF families with mutations in the leucine-rich, glioma inactivated 1 gene (LGI1) were analyzed, in a study at Columbia University, New York.
J Gordon Millichap
doaj   +1 more source

Mutation-independent treatment of autosomal dominant Retinitis Pigmentosa (adRP) [PDF]

, 2010
Viral-mediated gene therapy holds great promise for the treatment of severe inherited retinal diseases, such as Retintitis Pigmentosa (RP), which is caused by mutations in genes preferentially expressed in photoreceptor cells. The availability of vectors
Mussolino, Claudio
core   +1 more source

The heterodimeric amino acid transporters (HAT) of the SLC7/SLC3 family: A structure−function relationships and relevance to human pathology

FEBS Letters, EarlyView.
Heterodimeric amino acid transporters consist of SLC7 and SLC3 family proteins arranged in a conserved structural organization. They regulate nutrient transport across cell membranes, supporting essential cellular functions. These transporters also contribute to xenobiotic/drug uptake and distribution.
Mariafrancesca Scalise, Tiziano Mazza, Raffaella Scanga, Lara Console, Michele Galluccio, Cesare Indiveri   +5 more
wiley   +1 more source

Guttate hypopigmentation in Darier disease: A rare presentation

Pigment International
Darier disease (DD) is an autosomal dominant genodermatosis attributed to ATP2A2 gene mutation which encodes the sarco/endoplasmic reticulum Ca2+ATPase isoform 2.
Aradhana Rout, Ashish Kumar Pandey, Karthi Kishore   +2 more
doaj   +1 more source

Characterization of the first patient with disseminated coccidioidomycosis and autosomal dominant STAT1 deficiencyCoccidioidomycosis and autosomal dominant STAT1 deficiency [PDF]

Journal of Human Immunity
Autosomal dominant STAT1 deficiency is a monogenic defect that increases susceptibility to coccidioidomycosis in humans.
Aidé Tamara Staines-Boone, Miyuki Tsumura, STAT1 Consortium, Jacinta Bustamante, Satoshi Okada, Lizbeth Blancas-Galicia   +5 more
doaj   +1 more source

HTRA1-related autosomal dominant cerebral small vessel disease

Chinese Medical Journal, 2021
. Background. Homozygous or compound heterozygous mutations in high temperature requirement serine peptidase A1 (HTRA1) gene are responsible for cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL ...
Jing-Yi Liu, Yi-Cheng Zhu, Li-Xin Zhou, Yan-Ping Wei, Chen-Hui Mao, Li-Ying Cui, Bin Peng, Ming Yao, Xin Chen   +8 more
doaj   +1 more source

Leucine‐rich glioma inactivated 1 (LGI1) is a ganglioside‐binding protein

FEBS Letters, EarlyView.
Neuronal hyperexcitability associated with a decrease/absence of the extracellular protein LGI1 has been suggested to be primarily due to the downregulation of Kv1 channel expression. The molecular mechanisms underlying this decrease have not yet been elucidated.
Kévin Debreux, Christian Lévêque, Fodil Azzaz, Marion Sangiardi, Sarosh R Irani, Michael Seagar, Jacques Fantini, Oussama El Far   +7 more
wiley   +1 more source

Autosomal dominant simple microphthalmos. [PDF]

Journal of Medical Genetics, 1994
Congenital bilateral microphthalmos is a rare malformation of the eye, which ranges from extreme to mild reduction of total axial length. Microphthalmos may occur as an isolated ocular abnormality or as part of a systemic disorder, and different classifications of the condition have been attempted.
Vingolo, E M, Steindl, Katharina, Forte, R, Zompatori, L, Iannaccone, A, Sciarra, A, Del Porto, G, Pannarale, M R   +7 more
openaire   +2 more sources

Lysyl oxidase (LOX)‐mediated remodeling of the extracellular matrix

FEBS Letters, EarlyView.
The lysyl oxidase (LOX) family of enzymes drives extracellular matrix remodeling by oxidizing collagen, elastin, and fibronectin, promoting covalent cross‐link formation. This activity regulates tissue architecture and mechanical properties, while its dysregulation contributes to fibrosis, cardiovascular disease, glaucoma, connective tissue disorders ...
Fernando Rodríguez‐Pascual, Marta Navarro‐Gutiérrez, Verónica Romero‐Albillo, Raquel Jiménez‐Sánchez   +3 more
wiley   +1 more source