Results 31 to 40 of about 10,192,906 (282)

Deficiency in the multicopy Sycp3-like X-linked genes Slx and Slxl1 causes major defects in spermatid differentiation. [PDF]

, 2010
The human and mouse sex chromosomes are enriched in multicopy genes required for postmeiotic differentiation of round spermatids into sperm. The gene Sly is present in multiple copies on the mouse Y chromosome and encodes a protein that is required for ...
Ojarikre, Obah A., Burgoyne, Paul S, Yamauchi, Yasuhiro, Rattigan, Aine, Julie Cocquet, Jonathan M. Riel, Thomas P. S. Karacs, Áine Rattigan, Yasuhiro Yamauchi, Riel, Jonathan M., Cocquet, Julie, Affara, Nabeel A., Monika A. Ward, Paul S. Burgoyne, Karacs, Thomas P.S., Ellis, Peter J.I., Obah A. Ojarikre, Peter J. I. Ellis, Nabeel A. Affara, Ward, Monika A.   +19 more
core   +1 more source

Diagnosis, therapeutic advances, and key recommendations for the management of factor X deficiency. [PDF]

, 2021
Factor X deficiency is a rare coagulation disorder that can be hereditary or acquired. The typology and severity of the associated bleeding symptoms are highly heterogeneous, adding to the difficulties of diagnosis and management.
Kavakli, K, Álvarez Román, MT, Millar, CM, Auerswald, Guenter, Alvarez Roman M. T., Austin S. K., Peyvandi, Flora, Kavakli, Kaan, Millar C. M., Austin, Steven K., Kavakli K., Austin, SK, Peyvandi F., Millar, Carolyn M., Liesner, R, Auerswald G., Liesner, Ri, Liesner R., Peyvandi, F, Auerswald, G, Roman, Maria Teresa Alvarez   +20 more
core   +1 more source

Hemophilia A and factor V deficiency in a girl with Turner syndrome: a case report

Journal of Medical Case Reports, 2023
Background Hemophilia is an X-linked, recessive inherited disease caused by a defect or deficiency of one of the coagulation factors (VIII or IX). It is considered a rare disease in females.
Rawan Al khudari, Duaa Batesh, Roaa Habash, Othman Hamdn   +3 more
doaj   +1 more source

A Recessive Mutation Resulting in a Disabling Amino Acid Substitution (T194R) in the LHX3 Homeodomain Causes Combined Pituitary Hormone Deficiency [PDF]

, 2012
Background/Aims: Recessive mutations in the LHX3 homeodomain transcription factor gene are associated with developmental disorders affecting the pituitary and nervous system. We describe pediatric patients with combined pituitary hormone deficiency (CPHD)
Hiedl, Stefan, Duran-Prado, Mario, Lohse, Peter, Roeb, Julia, Rhodes, Simon J., Malik, Raleigh E., Bechtold-Dalla Pozza, Susanne, Park, Soyoung   +7 more
core   +1 more source

Autosomal recessive inherited bleeding disorders in Pakistan: a cross-sectional study from selected regions

Orphanet Journal of Rare Diseases, 2017
Background Autosomal recessive bleeding disorders (ARBDs) include deficiencies of clotting factors I, II, V, VII, X, XI, XIII, vitamin K dependent clotting factors, combined factor V & VIII, Von Willebrand Disease (vWD) type 3, Glanzmann’s thrombasthenia
Arshi Naz, Muhammad Younus Jamal, Samina Amanat, Ikram Din ujjan, Akber Najmuddin, Humayun Patel, Fazle Raziq, Nisar Ahmed, Ayisha Imran, Tahir Sultan Shamsi   +9 more
doaj   +1 more source

Major differences in bleeding symptoms between factor VII deficiency and haemophilia B

, 2009
SUMMARY BACKGROUND: The autosomally-inherited factor VII (FVII) deficiency and X-linked hemophilia B offer an attractive model to investigate whether reduced levels of FVII and FIX, acting in the initiation and amplification of coagulation respectively ...
J. Ingerslev, E. Santagostino, J. F. Schved, International Factor VII Deficiency Study Group, G. Mariani, M. Lapecorella, A. Dolce, M. Pinotti, A. Batorova, F. Bernardi, A. D. Shapiro, F. Peyvandi   +11 more
core   +1 more source

Hereditary Factor X (Stuart-Prower Factor) Deficiency [PDF]

Medical Journal Armed Forces India, 2008
Inherited deficiency of Factor X was first reported way back in mid 1950s by workers who were studying patients with a haemorrhagic disease resembling factor VII deficiency. It is also known by the surnames of the patients who were first found to manifest the defect (Stuart and Prower).
P K, Gupta, H, Kumar, S, Kumar
openaire   +2 more sources

Thrombosis in inherited factor VII deficiency

, 2003
Thrombosis in congenital factor (F) VII deficiency was investigated through extensive phenotypic and molecular-genetic studies. Patients with a history of thrombosis among 514 entries in the FVII Deficiency Study Group database were evaluated. Thrombotic
WULFF K, DOLCE A, AUERSWALD G, ASTERMARK J, BERNARDI, Francesco, INTERNATIONAL FACTOR VII DEFICIENCY STUDY GROUP, BATOROVA A, HERRMANN FH, MARIANI G, SCHVED JF, SCHULMAN S, INGERSLEV J, ETRO, Daniela   +12 more
core   +1 more source

IGF-I receptor phosphorylation is impaired in cathepsin X-deficient prostate cancer cells [PDF]

, 2012
The cysteine-type peptidase cathepsin X is highly upregulated in several cancers and presumably promotes tumor invasion through bypassing cellular senescence. Here, we present first evidence that the underlying mechanism may involve the regulation of the
Kraus, Steffen, Bunsen, Thea, Fruth, Maximilian, Nägler, Dorit K.   +3 more
core   +1 more source

Retrospective Analysis of Donor Lymphocyte Infusions in Pediatric Patients With Mixed Chimerism After Hematopoietic Stem Cell Transplantation

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Allogeneic hematopoietic stem cell transplantation (alloHSCT) is an essential therapy for several malignant and nonmalignant diseases, but relapse and graft loss remain the principal threats to its success. Routine monitoring of chimerism and minimal residual disease (MRD) enables early detection of imminent recurrence and guides ...
Carmen Junk, Sebastian Michaelis, Michaela Döring, Thomas Eichholz, Ursula Holzer, Martin Ebinger, Tim Flaadt, Rupert Handgretinger, Peter Lang, Jan Frederic Weller, Markus Mezger   +10 more
wiley   +1 more source