Results 221 to 230 of about 554,004 (364)

Deletion in CACNA1F gene causes X-linked progressive retinal atrophy in English Cocker Spaniel dogs. [PDF]

BMC Vet Res
Bionda A, Liotta L, Floridia V, Niggel JK, Giretto D, Crepaldi P, Aguirre GD, Murgiano L.   +7 more
europepmc   +1 more source

A Prospective Study of Individuals at Risk of Multiple Sclerosis Informs the Design of Primary Prevention Studies

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective In multiple sclerosis, the optimal time for deploying a therapeutic intervention is before the central nervous system is damaged; given the success of trials treating the earliest stage of MS, the radiologically isolated syndrome, developing primary prevention strategies is an important next challenge.
Amy W. Laitinen, Ceren Tozlu, Tina Roostaei, Fatoumata Diallo, Kaho Onomichi, Jiyeon Son, Zongqi Xia, Philip L. De Jager   +7 more
wiley   +1 more source

Case Report: Fatal pneumonia as a manifestation of X-linked hypohidrotic ectodermal dysplasia: clinical phenotype and genotype characterization of a novel <i>EDA</i> frameshift variant in a four-generation pedigree. [PDF]

Front Pediatr
Liu H, Zhao R, Liu H, Duan W, Li Y, Jin B, Gong Y.   +6 more
europepmc   +1 more source

A gene for X-linked idiopathic congenital nystagmus (NYS1) maps to chromosome Xp11.4-p11.3.

American Journal of Human Genetics, 1999
Annick Cabot, J. Rozet, S. Gerber, I. Perrault, D. Ducroq, A. Smahi, E. Souied, Arnold Munnich, J. Kaplan   +8 more
semanticscholar   +1 more source

Innate Immune Reprogramming Mediated by Endogenous Retroelement Dysregulation Drives Multiple Sclerosis Progression

Annals of Clinical and Translational Neurology, EarlyView.
Epigenetic reprogramming in hematopoietic stem and progenitor cells (HSPCs) and downstream myeloid cells, mediated by H3.3 downregulation and endogenous retroelement (ERE) overexpression, contributes to the progression of multiple sclerosis (MS). ABSTRACT Background Skewed myelopoiesis in the bone marrow has been identified as a key driver of multiple ...
Li‐Mei Xiao, Qiu‐Ping Zhao, Run‐Yun Li, Wei Chen, Huan‐Huan Song, Wan‐Jin Chen, Ying Fu   +6 more
wiley   +1 more source

Wiskott-Aldrich syndrome and X-linked thrombocytopenia: a review of the clinical and immunological spectrum with a case presentation highlighting glomerulonephritis. [PDF]

Front Pediatr
Stroescu R, Chirita-Emandi A, Steflea RM, Mihailov D, Doros G, Chisavu F, Munteanu C, Gafencu M.   +7 more
europepmc   +1 more source

Mapping of X-linked myxomatous valvular dystrophy to chromosome Xq28.

American Journal of Human Genetics, 1998
F. Kyndt, J. Schott, J. Trochu, Florence Baranger, O. Herbert, V. Scott, É. Fressinaud, Albert David, Jean-Paul Moisan, Jean-Brieuc Bouhour, H. Marec, B. Bénichou   +11 more
semanticscholar   +1 more source

Normal‐Appearing White Matter Injury Mediates Chronic Deep Venous Hypoxia and Disease Progression in Multiple Sclerosis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To explore how cerebral hypoxia and Normal‐Appearing White Matter (NAWM) integrity affect MS lesion burden and clinical course. Methods Seventy‐nine MS patients, including 13 clinically isolated syndrome (CIS) patients and 66 relapsing–remitting multiple sclerosis (RRMS) patients, and 44 healthy controls (HCs) were recruited from ...
Xinli Wang, Huiying Wang, Zhizheng Zhuo, Ai Guo, Ke Lv, Decai Tian, Chao Chai, Yunyun Duan, Shuang Xia   +8 more
wiley   +1 more source

Deep learning detection of retinitis pigmentosa inheritance forms through synthetic data expansion of a rare disease dataset. [PDF]

Sci Rep
Hwang EE, Rivera ML, Lin MT, Zéboulon P, Nachnani K, Yuan O, Madaan P, Han Y, Duncan JL, Jia L, Shan J.   +10 more
europepmc   +1 more source

A Depolarizing Leak in Sodium Bicarbonate Cotransporter NBCe1 Causes Brain Edema

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives SLC4A4 encodes electrogenic sodium bicarbonate cotransporter NBCe1, prominently expressed in kidney and brain. Recessive loss‐of‐function variants in SLC4A4 cause proximal renal tubular acidosis, no brain edema. In the brain, NBCe1 is expressed by astrocytes, where it regulates pH and mediates astrocyte volume changes.
Quinty Bisseling, Mark D. Parker, Sven Kerst, Richard A. Pasternack, Jacob Tondreau, Marjolein Breur, Gemma M. van Rooijen‐van Leeuwen, Davide Tonduti, Ettore Salsano, Alejandra Darling, Joanna A. E. van Wijk, Susanna Törnroth‐Horsefield, Marianna Bugiani, Petra J. W. Pouwels, Quinten Waisfisz, Marjo S. van der Knaap, Rogier Min   +16 more
wiley   +1 more source