Results 91 to 100 of about 21,237 (225)

NAD+ augmentation restores mitophagy and limits accelerated aging in Werner syndrome

Nature Communications, 2019
The molecular mechanisms of mitochondrial dysfunction in the premature ageing Werner syndrome were elusive. Here the authors show that NAD+ depletion-induced impaired mitophagy contributes to this phenomenon, shedding light on potential therapeutics.
Evandro F. Fang, Yujun Hou, Sofie Lautrup, Martin Borch Jensen, Beimeng Yang, Tanima SenGupta, Domenica Caponio, Rojyar Khezri, Tyler G. Demarest, Yahyah Aman, David Figueroa, Marya Morevati, Ho-Joon Lee, Hisaya Kato, Henok Kassahun, Jong-Hyuk Lee, Deborah Filippelli, Mustafa Nazir Okur, Aswin Mangerich, Deborah L. Croteau, Yoshiro Maezawa, Costas A. Lyssiotis, Jun Tao, Koutaro Yokote, Tor Erik Rusten, Mark P. Mattson, Heinrich Jasper, Hilde Nilsen, Vilhelm A. Bohr   +28 more
doaj   +1 more source

Case Report With Biallelic Variants in GCNT2 Implicates Exon 1B in Congenital Cataracts

American Journal of Medical Genetics Part A, Volume 200, Issue 7, Page 1716-1718, July 2026.
ABSTRACT GCNT2‐related cataracts is a disorder characterized by bilateral congenital cataracts (CC) of various types (with or without the adult i blood phenotype) and is caused by biallelic variants in GCNT2, which has 3 major isoforms, differentiated by alternative splicing of the first exon (known as exon 1A, B, and C).
Audrey O'Neill, Cindy Bayer, Emily McQuillen, Erica D. Smith, Meghan Towne, Dallas Reed   +5 more
wiley   +1 more source

Hypermutable Ligation of Plasmid DNA Ends in Cells from Patients with Werner Syndrome

, 1994
Werner Syndrome is a rare autosomal recessive disorder characterized by an increased cancer risk and by symptoms suggestive of premature aging. Cells from these patients demonstrate a typical pattern of chromosomal instability and a spontaneous ...
Sobotta, Petra, Möller, Karin, Rünger, Thomas M., Dekant, Barbara, Poot, Martin, Bauer, Cathrin, Czerny, Christian, Martin, George M.   +7 more
core   +1 more source

Interaction Between Rec8 and Mis4 Is Required for Axis‐Loop Chromatin Formation and Homologous Chromosome Recombination During Meiosis

Genes to Cells, Volume 31, Issue 4, July 2026.
We identified a Mis4 cohesin loader mutant that is specifically defective in chromatin axis formation and homologous recombination while retaining normal sister chromatid cohesion. The mis4‐LR mutant, carrying the L1150S and R1159G amino acid substitutions, exhibited reduced interaction between Mis4 and Rec8, suggesting a meiosis‐specific role for the ...
Takeshi Sakuno, Yasuto Murayama, Tokuko Haraguchi, Yasushi Hiraoka   +3 more
wiley   +1 more source

Herlyn-Werner-Wunderlich Syndrome: A Mini-review [PDF]

, 2018
Herlyn-Werner-Wunderlich (HWW) syndrome is a rare congenital malformation syndrome that is characterized by a triad of uterine didelphys, blind hemivagina, and ipsilateral renal agenesis.
Jiwon M. Lee
core   +1 more source

Herlyn-Werner-Wunderlich syndrome: a case report

, 2022
Herlyn-Werner-Wunderlich Syndrome is a congenital anomaly of mullerian ducts, characterized by uterus didelphys, obstructed hemivagina, and ipsilateral renal agenesis which can lead to progressive dysmenorrhea in post menarche, hematocolpos or ...
Ahmetgjekaj, Ilir, Kutllovci, Arben, Bajraktari, Edita   +2 more
core   +1 more source

Women Leading Otherwise? Rethinking Leadership Configurations in the Music Industry Through Keychange

Gender, Work &Organization, Volume 33, Issue 4, Page 1347-1358, July 2026.
ABSTRACT Women continue to face systemic barriers to exercising leadership in the music industry. This article critically examines Keychange, a transnational initiative that seeks to transform the industry through talent development advocacy and leadership training for women and gender‐diverse individuals. Drawing on participant interviews and situated
Matina Magkou, Jonathan Price, Grace Goodwin   +2 more
wiley   +1 more source

Herlyn-Werner-Wunderlich syndrome with a partially obstructed hemivagina

, 2012
Uterine didelphys with obstructed hemivagina and ipsilateral renal agenesis is a rare congenital anomaly of the Müllerian duct system referred to as Herlyn-Werner-Wunderlich syndrome.
Cruite, Irene, Moshiri, Mariam, Seyal, Adeel Rahim, Bhargava, Puneet   +3 more
core   +1 more source

Herlyn-Werner-Wunderlich syndrome : a rare genitourinary anomaly in females : a series of four cases [PDF]

, 2018
We present case series of four patients with an important syndrome known as Herlyn-Werner-Wunderlich syndrome. Herlyn-Werner-Wunderlich syndrome is a rare congenital anomaly characterised by uterus didelphys with blind hemivagina and ipsilateral renal ...
Khan, Insha, Saldanha, Cimona L., Ilyas, Mohd   +2 more
core   +1 more source

From the Proteome to Therapeutics: A Multi‐Database Approach to Drug Discovery in Periodontitis—An Exploratory Pilot Study

Journal of Clinical Periodontology, Volume 53, Issue 7, Page 990-1004, July 2026.
ABSTRACT Introduction This explanatory pilot study presents a workflow to identify approved drugs, which could be repurposed for periodontitis therapy using salivary proteomics combined with drug‐target database screening. Methods Proteomic analyses of saliva using LC–MS/MS were conducted in two independent settings: a cohort (sub‐study I, N = 187) and
Taisir Bozo, Annette Murr, Birte Holtfreter, Sebastian‐Edgar Baumeister, Peter Meisel, Uwe Völker, Werner Weitschies, Henry Völzke, Philipp Kanzow, Elke Hammer, Manuela Gesell Salazar, Thomas Kocher   +11 more
wiley   +1 more source