Results 21 to 30 of about 1,064,760 (292)

Probing the secrets of Alzheimer's disease using human-induced pluripotent stem cell technology. [PDF]

, 2014
Our understanding of Alzheimer's disease (AD) is still incomplete and, as a result, we lack effective therapies. Reprogramming to generate human-induced pluripotent stem cells provides a new approach to the generation of human neurons that carry the ...
Goldstein, Lawrence SB, Reyna, Sol, Woodruff, Grace   +2 more
core   +1 more source

Molecular Landscape of Pediatric Thyroid Cancer: A Review

Diagnostics, 2022
Thyroid carcinomas (TC) are rare in the pediatric population; however, they constitute the most common endocrine malignancy. Despite some similarities with adult carcinomas, they have distinct clinical behavior and responses to therapy due to their ...
Prerna Guleria, Radhika Srinivasan, Chanchal Rana, Shipra Agarwal   +3 more
doaj   +1 more source

Broad clinical phenotypes associated with TAR-DNA binding protein (TARDBP) mutations in amyotrophic lateral sclerosis [PDF]

, 2010
The finding of TDP-43 as a major component of ubiquitinated protein inclusions in amyotrophic lateral sclerosis (ALS) has led to the identification of 30 mutations in the transactive response-DNA binding protein (TARDBP) gene, encoding TDP-43.
A Yokoseki, BA Hosler, C Lomen-Hoerth, C Vance, Christopher J. McDermott, D Neary, DR Rosen, E Buratti, E Buratti, E Kabashi, Emily F. Goodall, F Gros-Louis, GM Ringholz, H Daoud, Hannah C. Hollinger, I Gijselinck, IF Wang, IR Mackenzie, J Kirby, J Sreedharan, J. Robin Highley, Janine Kirby, JJ Kew, Judith A. Hartley, Karen E. Morrison, L Benajiba, L Corrado, M Morita, M Neumann, MJ Strong, MJ Winton, NJ Rutherford, P Kuhnlein, PA Mercado, Pamela J. Shaw, Paul G. Ince, PM Andersen, R Bo Del, R Lemmens, Rachel Hibberd, RJ Guerreiro, Rudo Masanzu, SH Ou, Stephen B. Wharton, VM Deerlin Van, William Smith, YM Ayala   +46 more
core   +1 more source

Differences in telomere length between sporadic and familial cutaneous melanoma [PDF]

, 2016
BACKGROUND: Several pieces of evidence indicate that a complex relationship exists between constitutional telomere length (TL) and the risk of cutaneous melanoma.
Bojnik, Engin, DE ROSSI, Anita, Del Bianco, P, Elefanti, L, Gianesin, Ketty, Keppel, S, Menin, C, Mocellin, Simone, Stagni, Camilla, Vecchiato, A   +9 more
core   +1 more source

Mutational analysis of DAX1 in patients with hypogonadotropic hypogonadism or pubertal delay [PDF]

, 1999
Although delayed puberty is relatively common and often familial, its molecular and pathophysiologic basis is poorly understood. In contrast, the molecular mechanisms underlying some forms of hypogonadotropic hypogonadism (HH) are clearer, following the ...
Achermann, JC, Bick, DP, Crowley, WF, Gu, WX, Habiby, RL, Hindmarsh, PC, Jameson, JL, Kotlar, TJ, Layman, LC, Meeks, JJ, Sabacan, LP, Seminara, SB, Sherins, RJ   +12 more
core   +1 more source

Familial ALS-superoxide dismutases associate with mitochondria and shift their redox potentials [PDF]

, 2006
Recent studies suggest that the toxicity of familial amyotrophic lateral sclerosis mutant Cu, Zn superoxide dismutase (SOD1) arises from its selective recruitment to mitochondria. Here we demonstrate that each of 12 different familial ALS-mutant SOD1s
Butler Gralla, Edith, Carrì, Maria Teresa, Casciati, Arianna, Cozzolino, Mauro, Crosio, Claudia, Ferri, Alberto, Nencini, Monica, Rotilio, Giuseppe, Valentine, Joan Selverstone   +8 more
core   +2 more sources

Exercise‐induced thoracic outlet syndrome and concomitant osteomyelitis in cervical rib with a possible familial origin: A case report

Clinical Case Reports, 2022
Cervical ribs are rare and usually asymptomatic. Occasionally, they can cause nerve impingements and compressive symptoms. In cervical ribs, osteomyelitis secondary to trauma is unheard of.
Ammara Bint I Bilal, Mohammadshah Isam Gul, Fateen Ata, Renan E. Ibrahem, Muhammad I. Danjuma   +4 more
doaj   +1 more source

Metabolism of low-density lipoproteins by cultured hepatocytes from normal and homozygous familial hypercholesterolemic subjects [PDF]

, 1986
The profoundly elevated concentrations of low-density lipoproteins (LDL) present in homozygous familial hypercholesterolemia lead to symptomatic cardiovascular disease and death by early adulthood.
Brewer, HB, Demosky, SJ, Edge, SB, Gregg, RE, Hoeg, JM, Starzl, TE, Triche, T   +6 more
core   +1 more source

A Novel PKD1 Mutation Associated With Autosomal Dominant Kidney Disease and Cerebral Cavernous Malformation

Frontiers in Neurology, 2018
Autosomal dominant polycystic kidney disease (ADPKD) is a genetic disorder characterized by the presence of renal cysts and specific extrarenal abnormalities.
Christian Thomas, Andrea Zühlsdorf, Konstanze Hörtnagel, Lejla Mulahasanovic, Oliver M. Grauer, Philipp Kümpers, Heinz Wiendl, Sven G. Meuth   +7 more
doaj   +1 more source

The surprising implications of familial association in disease risk

, 2017
Background: A wide range of diseases show some degree of clustering in families; family history is therefore an important aspect for clinicians when making risk predictions.
Aalen, Odd O., Stensrud, Mats Julius, Valberg, Morten   +2 more
core   +1 more source