Results 51 to 60 of about 10,192,906 (282)

Nonclassic lipoid congenital adrenal hyperplasia masquerading as familial glucocorticoid deficiency [PDF]

, 2009
Context: Familial glucocorticoid deficiency (FGD) is an autosomal recessive disorder resulting from resistance to the action of ACTH on the adrenal cortex.
Racine, M, Naville, D., Nurnberg, G., Green, J, Metherell, L. A., Nurnberg, P, Krone, NP, Krone, N. P., Arlt, W, Tomlinson, Jeremy, Achermann, JC, Halaby, G, Tomlinson, J. W., Clark, A. J. L., Krone, Nils, Naville, D, Berney, D. M., Begeot, M., Huebner, A., Halaby, G., Green, J., Berney, DM, Clark, AJ, Lin, L, Lin, L., Racine, M., Arlt, Wiebke, Achermann, J. C., Arlt, W., Nurnberg, G, Metherell, LA, Tomlinson, JW, Begeot, M, Huebner, A, Nurnberg, P., Clark, AJL   +35 more
core   +1 more source

Residual tail twisting in ascidian larvae is stabilized by asymmetric myofibrils that resist bilateral symmetry restoration

FEBS Letters, EarlyView.
Ascidian Ciona larvae initially show strong clockwise tail twisting, which is largely corrected during development. However, a small residual twist remains. This study shows that organized helical myofibrils in tail muscles mechanically stabilize this residual asymmetry, preventing complete restoration of bilateral symmetry and revealing how embryos ...
Yuki S. Kogure, Misaki K. Nishio, Satoru Okuda, Kohji Hotta   +3 more
wiley   +1 more source

A Case Report of Moderate Factor X Deficiency [PDF]

Factor X deficiency is a rare coagulation disorder with a varied clinical spectrum. It can present at any age, but most severe cases present in childhood.
Shaikh, Murtuja, Das, Tanmoy, Kaur, Harpreet, Wade, Poonam   +3 more
core   +1 more source

PROPHYLAXIS FOR INHERITED DEFICIENCY OF FACTOR X (PROTECT-X): A SYSTEMATIC REVIEW

Hematology, Transfusion and Cell Therapy
Introduction: Hereditary factor X (FX) deficiency (FXD) is a rare autosomal recessive bleeding disorder. The reduced or absent plasma FX clotting activity leads to spontaneous hemorrhages or bleeds after minor trauma. FXD severity varies among mild (FX 6%
VJP Ferreira, AF Costa, RM Camelo
doaj   +1 more source

An analysis of 8 cases of factor X deficiency [PDF]

Indian Journal of Hematology and Blood Transfusion, 2008
Factor X deficiency is a rare coagulation defect. There are occasional reports of factor X deficiency from India. Difficulty in accurate diagnosis and non-availability of ideal treatment is discussed.Eight cases of factor X deficiency, diagnosed from 1992 to 2007 are reported hereSeven were male while one was female.
Nilam M, Shah, Ashwin P, Patel
openaire   +2 more sources

Septin 9 PB domains coordinate centrosome positioning and microtubule acetylation to control epithelial polarity

FEBS Letters, EarlyView.
Septin 9 polybasic domains couple phosphoinositide‐rich membrane binding to centrosome positioning, Golgi organization, and microtubule acetylation to control epithelial polarity. Their loss disrupts this axis, causing centrosome mispositioning, Golgi fragmentation, reduced microtubule acetylation, and polarity inversion via upregulation of the ...
Ting ting Cai, Mohyeddine Omrane, Nassima Benzoubir, Didier Samuel, Ama Gassama‐Diagne   +4 more
wiley   +1 more source

From mice to humans—divergent strategies for intestinal homeostasis and regeneration

FEBS Letters, EarlyView.
Recent advances such as organoid genome editing, xenotransplantation, imaging, and whole‐genome sequencing have enabled direct studies of human intestinal stem cells (ISCs). These studies reveal species‐specific features, including slower ISC proliferation, distinct injury responses, slower somatic mutation accumulation in humans, and an inverse ...
Keiko Ishikawa, Shinya Sugimoto, Toshiro Sato   +2 more
wiley   +1 more source

CHARACTERIZATION AND MANAGEMENT OF PATIENTS WITH HEREDITARY FACTOR X DEFICIENCY: A RETROSPECTIVE SINGLE CENTER EXPERIENCE

Hematology, Transfusion and Cell Therapy, 2023
Objective: Factor X deficiency (FXd) is a rare coagulation disorder that can be either hereditary or acquired. Case report: We characterized patients with FXd and evaluated their bleeding patterns and treatment strategies. Methodology: This retrospective
Nigar Abdullayeva, Fahri Sahin, Zuhal Demirci, Bahar Sevgili   +3 more
doaj   +1 more source

Use of a High-Purity Factor X Concentrate in Turkish Subjects with Hereditary Factor X Deficiency: Post Hoc Cohort Subanalysis of a Phase 3 Study

Turkish Journal of Hematology, 2018
Hereditary factor X (FX) deficiency is a rare bleeding disorder more prevalent in countries with high rates of consanguineous marriage. In a prospective, open-label, multicenter phase 3 study, 25 IU/kg plasmaderived factor X (pdFX) was administered as on-
Ahmet F. Öner, Tiraje Celkan, Çetin Timur, Miranda Norton, Kaan Kavaklı   +4 more
doaj   +1 more source

Modelling stem cell differentiation related processes—A practical overview for biologists

FEBS Letters, EarlyView.
Stem cell differentiation is complex and difficult to control experimentally. This review introduces suitable computational modelling approaches that can support stem cell research, from mechanistic ODE and abstract models to multiscale and deep learning methods.
Ricco Zeegelaar, Xinqi Yan, Lucas F. Jansen Klomp, Stefano Schivo, Janine N. Post   +4 more
wiley   +1 more source