Results 131 to 140 of about 436,315 (283)

Hereditary combined deficiency of vitamin K–dependent clotting factors presenting as postoperative haemorrhage in a Syrian adolescent: a likely VKCFD type 2 phenotype

European Journal of Case Reports in Internal Medicine
Hereditary combined deficiency of vitamin K–dependent clotting factors (VKCFD) is a rare autosomal recessive disorder characterized by reduced activity of factors II, VII, IX, and X despite normal vitamin K levels.
Mahmoud Alhamadeh Alswij, Mais Musleh, Abdulhalim Mohamed Alyousef, Nizar Alsheekh Ahmad, Abdullatif AlStem, Hadi Ataya   +5 more
doaj   +1 more source

Occurrence and management of severe bleeding episodes in patients with hereditary factor X deficiency. [PDF]

Haemophilia, 2021
Tarantino MD.
europepmc   +1 more source

Molecular characterization of factor X deficiency associated with borderline plasma factor X level

, 2004
Borderline plasma factor X (FX) levels might complicate the diagnosis of FX deficiency. An asymptomatic individual with 73% FX activity was identified to be heterozygous for the Val342Ala mutation.
MARCHETTI, Giovanna, BERNARDI, Francesco, PINOTTI, Mirko, BARONI, Marcello, MONTI M   +4 more
core  

Genetic regulation of pituitary gland development in human and mouse

, 2009
Normal hypothalamopituitary development is closely related to that of the forebrain and is dependent upon a complex genetic cascade of transcription factors and signaling molecules that may be either intrinsic or extrinsic to the developing Rathke’s ...
Robin Lovell-Badge, Dattani, M. T., Robinson, I. C. A. F., Mehul T. Dattani, Lovell-Badge, R., Karine Rizzoti, Iain C. A. F. Robinson, Rizzoti, K., Kelberman, D., Daniel Kelberman   +9 more
core   +1 more source

Finding novel vulnerabilities of hypomorphic BRCA1 alleles

Molecular Oncology, EarlyView.
Synthetic lethality screens performed to identify novel vulnerabilities often model complete gene loss, thereby overlooking patient‐derived hypomorphic mutations. In this study, we have performed genome‐wide CRISPR screens on BRCA1 hypomorphic mutations, showing BRCA1I26A behaves like wild‐type, while BRCA1R1699Q mimics deficiency. Furthermore, we have
Anne Schreuder, Klaas de Lint, Hồ Mỹ Phúc Võ, Mariana M. Góis, Rosalie A. Kampen, Marta San Martin Alonso, Ilse Nootenboom, Veronica Garzero, Tiemen J. Wendel, Rob M. F. Wolthuis, Sylvie M. Noordermeer   +10 more
wiley   +1 more source

A Case Report of Acquired Factor X Deficiency in a Patient With Multiple Myeloma. [PDF]

Cureus, 2021
Sabobeh T, Brugioni EK, Masoud A, Madhusudhana S, Mateescu V.   +4 more
europepmc   +1 more source

Severe combined adrenal and gonadal deficiency caused by novel mutations in the cholesterol side chain cleavage enzyme, P450scc

, 2008
Context: Mitochondrial cytochrome P450scc converts cholesterol to pregnenolone in all steroidogenic tissues. Although progesterone production from the fetally-derived placenta is necessary to maintain pregnancy to term, four patients with mutations in ...
Huang, NW, Achermann, JC, Lin, L, Kim, CJ, Miller, WL, Quigley, CA, AvRuskin, TW   +6 more
core  

Longitudinal genome‐wide aneuploidy measurements in circulating cell‐free DNA to predict lack of benefit from pembrolizumab in patients with metastatic urothelial cancer

Molecular Oncology, EarlyView.
Many patients with urothelial cancer do not benefit from treatment with pembrolizumab, while at risk of severe side effects. Changes in the levels of circulating tumor DNA early during treatment, measured by a simple and affordable assay that can be easily implemented in the clinic, can be used as a prognostic tool to identify these patients.
Youssra Salhi, Stavros Makrodimitris, Sandra van Wilpe, Iris te Paske, Vanja de Weerd, Corine M. Beaufort, Hans M. Westgeest, Jens Voortman, Maureen J. B. Aarts, Maud Rijnders, Astrid A. M. van der Veldt, Ronald de Wit, Niven Mehra, Saskia M. Wilting, Debbie G. J. Robbrecht   +14 more
wiley   +1 more source

Response of factor X deficiency to darutumumab in the treatment of AL amyloidosis: a novel finding. [PDF]

BMJ Case Rep, 2021
Mar E, Taylor K, Mollee P.
europepmc   +1 more source

MITF maintains genome stability in nonmelanocyte lineages

Molecular Oncology, EarlyView.
MITF is essential for melanocyte survival and acts as an oncogene in 10%–20% of melanomas. We show that MITF depletion causes genome instability in nonmelanocytic cells, leading to LATS2‐mediated P53 activation, cell cycle arrest, and apoptosis. This study highlights the role of MITF as a genome maintenance factor beyond the melanocyte lineage. Created
Drifa H. Gudmundsdottir, Adrián López García de Lomana, Thejus B. Venkatesh, Kritika Kirty, Snaevar Sigurdsson, Linda Vidarsdottir, Ramile Dilshat, Erla Sveinbjornsdottir, Snaedis Ragnarsdottir, Daniel H Magnusson, Maria R. Bustos, Eirikur Steingrimsson, Thorkell Gudjonsson, Stefan Sigurdsson   +13 more
wiley   +1 more source