Results 81 to 90 of about 7,598 (255)

Cryptorchidism: Novel genetic insights into CCDC149 mutations

Andrology, EarlyView.
Abstract Background Cryptorchidism, characterized by the failure of one or both testes to descend into the scrotum, is a common congenital condition that can lead to infertility and increased risk of testicular cancer. CCDC149, a coiled‐coil domain‐containing protein, has been implicated in various developmental processes, but its role in the male ...
Shengrong Du, Shan Xu, Lei Yang, Yan Ye, Yuhan Wu, Ziyun Xiao, Xiuqing Dong, Wenliang Yao, Hua Li   +8 more
wiley   +1 more source

The return of metabolism: biochemistry and physiology of glycolysis

Biological Reviews, EarlyView.
ABSTRACT Glycolysis is a fundamental metabolic pathway central to the bioenergetics and physiology of virtually all living organisms. In this comprehensive review, we explore the intricate biochemical principles and evolutionary origins of glycolytic pathways, from the classical Embden–Meyerhof–Parnas (EMP) pathway in humans to various prokaryotic and ...
Nana‐Maria Grüning, Federica Agostini, Camila Caldana, Johannes Hartl, Matthias Heinemann, Markus A. Keller, Jan Lukas Krüsemann, Costanza Lamperti, Carole L. Linster, Steffen N. Lindner, Julia Muenzner, Jens Nielsen, Zoran Nikoloski, Bettina Siebers, Jacky L. Snoep, Hezi Tenenboim, Bas Teusink, Spencer J. Williams, Mirjam M. C. Wamelink, Markus Ralser   +19 more
wiley   +1 more source

Targeted pharmacologic immunomodulation for inborn errors of immunity [PDF]

, 2020
Keith Sacco, Michael Stack, Luigi D. Notarangelo   +2 more
openalex   +1 more source

Skin Barrier Biomarkers in Patch‐Induced and Clinical Allergic and Irritant Contact Dermatitis

Contact Dermatitis, EarlyView.
Both patch‐induced and clinical ICD and ACD showed consistent alterations in skin barrier‐associated biomarkers, indicative of skin barrier impairment. Among the tested allergens, chromium elicited more pronounced biomarker responses compared to nickel and methylisothiazolinone.
Sanja Kezic, Florentine de Boer, Nariman K. A. Metwally, Karen Ghauharali‐van der Vlugt, Femke S. Beers‐Stet, Wouter Ouwerkerk, Ivone Jakasa, Thomas Rustemeyer, Henk F. van der Molen   +8 more
wiley   +1 more source

Chromosomal Microarray Analysis Supplements Exome Sequencing to Diagnose Children with Suspected Inborn Errors of Immunity [PDF]

, 2022
Breanna Beers, Morgan Similuk, Rajarshi Ghosh, Bryce A. Seifert, Leila Jamal, Michael Kamen, Michael Setzer, Colleen Jodarski, Rylee Duncan, Devin Hunt, Madison Mixer, Wenjia Cao, Weimin Bi, Daniel Veltri, Eric Karlins, Lingwen Zhang, Zhiwen Li, Kathleen Jevtich, Yunting Yu, Haley Hullfish, Bibi Bielekova, Pamela A. Frischmeyer‐Guerrerio, An Dang, Laryssa A. Huryn, Kenneth N. Olivier, Helen C. Su, Jonathan J. Lyons, Christa S. Zerbe, V. Koneti Rao, Michael D. Keller, Alexandra F. Freeman, Steven M. Holland, Luis M. Franco, Magdalena Walkiewicz, Jia Yan   +34 more
openalex   +1 more source

Squamous Cell Carcinoma in Transporter Associated With Antigen Processing Deficiency

JEADV Clinical Practice, EarlyView.
Jacques Zimmer
wiley   +1 more source

Factors Affecting Immune Reconstitution Post‐Allogeneic HSCT in Children: The Case for an Individualized Approach to Vaccination

European Journal of Haematology, EarlyView.
ABSTRACT Allogeneic hematopoietic stem cell transplantation (HSCT) is increasingly used to treat malignant and non‐malignant diseases. Following allogeneic HSCT, patients are particularly vulnerable to vaccine‐preventable diseases (VPD) because conditioning depletes immune cells, including memory cells.
Hélène Buvelot, Frederic Baleydier, Laure Pittet, Geraldine Blanchard‐Rohner   +3 more
wiley   +1 more source

High levels of serum cholesterol increase the risk of developing vessel co‐opting tumors in colorectal cancer liver metastases

The FEBS Journal, EarlyView.
High serum cholesterol is linked to colorectal cancer liver metastases (CRCLM) subtypes with poor survival (replacement pattern). Levels of cholesterol under 4 mmol·L−1 correlated with better survival and a desmoplastic pattern subtype. Furthermore, in vivo PCSK9 inhibitor evolocumab, which lowers cholesterol, reduced liver metastases.
Amatzia Gantz, Audrey Kapelanski‐Lamoureux, Miran Rada, Lucyna Krzywon, Migmar Tsamchoe, Anastasia Tsatoumas, Stephanie K. Petrillo, Nabil G. Seidah, Anthoula Lazaris, Peter Metrakos   +9 more
wiley   +1 more source

Current genetic diagnostics in inborn errors of immunity

Frontiers in Pediatrics
New technologies in genetic diagnostics have revolutionized the understanding and management of rare diseases. This review highlights the significant advances and latest developments in genetic diagnostics in inborn errors of immunity (IEI), which ...
Sandra von Hardenberg, Isabel Klefenz, Doris Steinemann, Nataliya Di Donato, Ulrich Baumann, Bernd Auber, Christian Klemann, Christian Klemann   +7 more
doaj   +1 more source

Deep and disseminated dermatophytosis in immunocompromised populations—A systematic review

Journal of the European Academy of Dermatology and Venereology, EarlyView.
Dermatophyte infections of the dermis and subcutaneous tissue (i.e. deep dermatophytosis)—associated with secondary complications including pseudomycetoma and systemic dissemination—affect vulnerable populations with primary or acquired immunodeficiencies.
Aditya K. Gupta, Tong Wang, Susmita, Ditte Marie L. Saunte, Roderick Hay, Vincent Piguet   +5 more
wiley   +1 more source