Results 31 to 40 of about 23,263 (214)

Placental Site Trophoblastic Tumor Acquires Immune Functions by Incorporating Host Maternal Genes

Advanced Science, EarlyView.
PSTT cells, through cell fusion with B cells, incorporate abundant non‐inherited maternal genes that are detectable by DNIMA. These hybrid cells acquire immunotherapy‐resistant genetic changes and increase the expression of B cell‐derived immune‐related molecules such as Ig, HLA, LILRB, SIGLEC10, and so on, creating an immunotolerant environment around
Kyosuke Kagami, Masanori Ono, Yasunari Mizumoto, Tatsuhito Kanda, Takashi Iizuka, Takiko Daikoku, Shin‐ichi Horike, Akira Hattori, Akihito Horie, Sachiko Minamiguchi, Tomoko Fujiwara, Kazuyoshi Hosomichi, Atsushi Tajima, Hirokazu Usui, Kaoru Abiko, Hiroshi Fujiwara   +15 more
wiley   +1 more source

Biallelic Germline Inactivation of HROB Causes Primary Gonadal Insufficiency and is Potentially Associated with Colonic Polyposis Predisposition

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The Homologous Recombination Factor With OB‐Fold (HROB) plays a role in homologous recombination and DNA replication, where it enhances the MCM8‐MCM9 helicase complex activity. Recent findings link biallelic germline HROB variants to primary gonadal insufficiency (hypergonadotropic hypogonadism), a phenotype also associated with MCM8/MCM9 ...
Noah C. Helderman, Carli M. Tops, Jelmer Legebeke, Ting Yang, Marcos Díaz Gay, Diantha Terlouw, Lisa E. E. L. O. Lashley, Stefan Aretz, Anna K. Sommer, Mariona Terradas, Laura Valle, Richarda M. de Voer, Ludmil B. Alexandrov, Hans Morreau, Tom van Wezel, Maartje Nielsen   +15 more
wiley   +1 more source

Expanding the Phenotype of TUFM‐Related Combined Oxidative Phosphorylation Deficiency 4

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Combined oxidative phosphorylation deficiency 4 (COXPD4) is a rare mitochondrial condition caused by biallelic deleterious variants in the nuclear‐encoded gene TUFM. To date, most individuals with COXPD4 have presented with encephalopathy, hypotonia, and abnormal brain imaging. Many of the reported individuals died in infancy. We aim to expand
Noémie Villeneuve‐Cloutier, Jodi Warman‐Chardon, Danielle K. Bourque   +2 more
wiley   +1 more source

Primary Ovarian Insufficiency: The Paradox of Menopause in Young Women

MAMC Journal of Medical Sciences, 2015
Primary ovarian insufficiency (POI) refers to the loss of ovarian function in young women. It can lead to primary or secondary amenorrhea. The loss of ovarian function is usually permanent akin to menopause.
Deepti Goswami
doaj   +1 more source

Clinical indicators to define etiology in patients with primary amenorrhea: Lessons from a decade of experience

Journal of Family Medicine and Primary Care, 2020
Context: Primary Amenorrhea is worrisome for the adolescent as well as their guardian. It is essential to be able to identify the underlying pathology and initiate appropriate management strategies, well in time.
Japleen Kaur, Rama Walia, Vanita Jain, Anil Bhansali, Richa Vatsa, Sujata Siwatch   +5 more
doaj   +1 more source

Streamlining Diagnosis of Bardet–Biedl Syndrome: New Diagnostic Algorithm With Updated Criteria

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Considerable advances have been made in our understanding of Bardet–Biedl syndrome (BBS), particularly in its core clinical features and molecular genetics, warranting an update to the existing diagnostic criteria framework. Using a rigorous, evidence‐based, and consensus‐driven process, a multidisciplinary group of international experts and ...
Jeremy J. Pomeroy, Jesse Richards, Brooke R. Sweeney, Seema Kumar, Katie E. Queen, Joshua Zaritsky, Carl H. Cramer, Elias I. Traboulsi, Brittni A. Scruggs, Erica E. Davis, Ekaterina Keifer, Emma McGibbon, Timothy Ogden, Bendert De Graaf, Tonia Hymers, Elizabeth Forsythe, Philip Beales   +16 more
wiley   +1 more source

Modern competency‐based teaching of human sexual development

Anatomical Sciences Education, EarlyView.
Abstract Embryology is an integral part of anatomy and a key subject in basic medical education. The development of the sexual tract, which is closely associated with the formation of the urinary tract and the organs of continence, is particularly complex and relevant for many medical disciplines.
Elisabeth Eppler, Alessandro Bilella, Christian M. Hammer   +2 more
wiley   +1 more source

Identification of major congenital malformations based on healthcare databases in France: A proof‐of‐concept study using the epi‐meres nationwide mother–child register

British Journal of Clinical Pharmacology, EarlyView.
Abstract Aim Besides registries, healthcare databases can provide useful information for assessing the frequency of major congenital malformations (MCMs) and investigating their risk factors, particularly medication exposures. This study aimed to assess the validity of MCMs identification based on French national, comprehensive healthcare databases ...
Tom Duchemin, Lise Marty, Jérôme Drouin, Sara Miranda, Jérémie Botton, Valérie Olié, Alain Weill, Rosemary Dray‐Spira   +7 more
wiley   +1 more source

Mullerian agenesis with primary amenorrhea: A case report of a normal phenotypic female

Saudi Journal of Medicine and Medical Sciences, 2017
Meyer–Rokitansky–Kuster–Hauser syndrome is a rare congenital abnormality occurring sporadically in females. It is the most common cause of primary amenorrhea. Affected persons usually appear normal on physical examination. This is a case of a 25-year-old
Akinyosoye D Ajiboye, Lukman O Omokanye, Abdulwaheed O Olatinwo, Sikiru A Biliaminu   +3 more
doaj   +1 more source

Analysis and Characterization of Kisspeptin and Its Analogues in Serum and Urine Samples by Liquid Chromatography–High‐Resolution Mass Spectrometry for Doping Control Purposes

Drug Testing and Analysis, EarlyView.
Sensitive LC‐HRMS methods were established for the detection of kisspeptin and its analogues in serum and urine, alongside their analytical and metabolic characterization. Stability studies were conducted in serum, plasma, and urine, highlighting the importance of appropriate sample handling for reliable anti‐doping analysis.
Sophia Krombholz, Linus Korsmeier, Andreas Thomas, Mario Thevis   +3 more
wiley   +1 more source