Results 71 to 80 of about 7,344 (147)

A new metabolic path in type 3 rickets

The FEBS Journal, Volume 293, Issue 3, Page 656-659, February 2026.
Rickets, a bone disorder, was historically categorised into either nutritional (vitamin D deficiency) or genetic forms involving loss‐of‐function mutations in mineral metabolism. Recently, a new mechanism, type 3 rickets, was discovered to be caused by a gain‐of‐function mutation in CYP3A4 (Ile301Thr).
Toshiya Senda, Yoshihisa Hirota
wiley   +1 more source

Proteomic analysis of the zone of degeneration at the mitosis–meiosis transition stage in wild‐caught male catshark (Scyliorhinus canicula), correlated with an unusually high‐water temperature in the English Channel

Journal of Fish Biology, Volume 108, Issue 2, Page 676-693, February 2026.
Abstract In the context of current global change, variations in water temperature are one of the environmental conditions with serious consequences for marine life, including reproductive processes. In the small spotted catshark Scyliorhinus canicula, spermatogenesis occurs in spermatocysts composed of synchronously developing germ cells associated ...
Fabian Jeanne, Stanislas Pilet, Sean Heighton, Benoît Bernay, Pascal Sourdaine   +4 more
wiley   +1 more source

ALDOA‐Mediated Metabolic Reprogramming is a Targetable Vulnerability for Ferroptosis Sensitization in Cancer

Advanced Science, Volume 13, Issue 6, 30 January 2026.
ALDOA‐depletion‐mediated glycolytic reprogramming promotes autophagy‐mediated degradation of MBOAT2, increasing the ratio of phospholipids containing pro‐ferroptotic polyunsaturated fatty acids over anti‐ferroptotic monounsaturated fatty acids, and thus sensitizing cancer cells to ferroptosis.
Pengqi Wang, Kezhang He, Bowen Wang, Wei Zhou, Ying Zhang, Tianhua Ma, Sheng Ding   +6 more
wiley   +1 more source

Human Cholesterol Biosynthesis Defects [PDF]

, 2019
Cholesterol plays an essential role in normal embryogenesis and perturbations in its de novo synthesis are responsible for organ malformations in the cholesterol biosynthesis defects.
Anderson, Erin, Coman, David
core   +1 more source

Comparison of modified Matyash method to conventional solvent systems for polar metabolite and lipid extractions [PDF]

, 2018
In the last decade, metabolomics has experienced significant advances in the throughput and robustness of analytical methodologies. Yet the preparation of biofluids and low-mass tissue samples remains a laborious and potentially inconsistent manual ...
Chalal, Karnpreet, Di Guida, Riccardo, Dunn, Warwick B., Kirwan, Jennifer, Palmer, Elliott, Sostare, Jelena, Viant, Mark R.   +6 more
core   +2 more sources

The role of cholesterol metabolism and various steroid abnormalities in autism spectrum disorders : A hypothesis paper [PDF]

, 2017
© 2017 The Authors Autism Research published by Wiley Periodicals, Inc.
Al-Ayadhi, Alexander, American Psychiatric Association, Anagnostou, Andari, Aneja, Angelopoulou, Asano, Asperger, Auyeung, Auyeung, Auyeung, Azzam, Baieli, Barnevik-Olsson, Baron-Cohen, Baron-Cohen, Baron-Cohen, Bejerot, Bejerot, Bener, Berry-Kravis, Bitsika, Blassberg, Bolton, Brosnan, Brown, Bukelis, Cannell, Cannell, Cannell, Chakrabarti, Christodoulou, Clemens, Coleman, Corbett, Corbett, Corbett, Corbett, Corbett, Corbett, Crespi, Crider, Dealberto, Diaz-Stransky, Domes, Durdiakova, Dziobek, Ehrhardt, Fein, Fernell, Fierro, Gainer, Gillberg, Gillberg, Gillberg, Gimpl, Gimpl, Gong, Goodman, Grant, Grant, Green, Green, Guastella, Hediger, Hennessey, Herbert, Herman, Holick, Hollander, Hollander, Humble, Ingudomnukul, Jia, Jiang, Kalinowska, Kana, Kanner, Keen, Kirkovski, Knickmeyer, Kosidou, Kočovská, Kočovská, Krajmer, Kumar, Lai, Lai, Lakatosova, Landén, Lecis, Lee, Leffell, Liberati, Lord, Lydon, Marcos, Meguid, Meljon, Miller, Modahl, Modahl, Moher, Molloy, Mostafa, Muhle, Nishimori, O'Connor, Opitz, Patrick, Payne, Pfaff, Porter, Posserud, Quattrocki, Reversi, Richdale, Rijn, Saad, Saad, Saher, Schengrund, Schmidt, Segatto, Seneff, Seneff, Sikora, Simonoff, Smalley, Souza Tostes, Sparks, Starck, Strang, Strifert, Tachibana, Takagishi, Taurines, Theodosis, Tierney, Tierney, Tierney, Tint, Tordjman, Tordjman, Tordjman, Travers, Ucuz, Utur, Vries, Waage-Baudet, Wassif, Wassif, Waterhouse, Weisman, Whitehouse, Whitehouse, Whitehouse, Wing, Wiznitzer, Woods, Wormwood, Wust, Yang, Zinke   +164 more
core   +5 more sources

Mutations in X-linked dominant chondrodysplasia punctata [PDF]

, 2002
X-linked dominant chondrodysplasia punctata (CDPX2), also kknown as ConradiHunermann- Happle (CHH) syndrome (OMIM 302960) is a rare genetic disorder of cholesterol biosynthesis characterized clinically by punctuate calcifications in cartilage, asymmetric
Chavez, Sara Esther
core   +1 more source

Extraction and Identification steroids in two species marine algae, Sargassum oligocystum and Nizamudiinia zanardinii in Persian Gulf and Oman Sea

‬‭Majallah-i ̒Ilmī-i Shīlāt-i Īrān, 2013
Sargassum oligocystum and Nizamudiinia zanardinii are the most abundant algae distributed in the north of Persian Gulf and Oman Sea. In this study after sampling and preparation of S. oligocystum by Chroform-Etanol (3-1) solvent and N.
SH. Jamili email ; A.R. Gohari; S. Saeidnia; P. Permeh; J. Firoozi; B.M. Gharanjik; M. Sadrian
doaj  

EVALUACIÓN CITOTÓXICA Y CLASTOGÉNICA EN LINFOCITOS HUMANOS DE UN 5α, 8α-EPIDIOXIESTEROL CYTOTOXIC AND CLASTOGENIC EVALUATION ON HUMAN LYMPHOCYTES OF A 5α, 8α-EPIDIOXYSTEROL

Vitae, 2008
El 5α, 8α-epidioxiesterol se obtiene por oxidación fotoquímica a partir del 7-deshidrocolesterol. El compuesto se analiza mediante técnicas cromatográficas y espectrales lo que permite identificarlo como 5α, 8α-epidioxi-colesta-6 ...
Diana M MARQUEZ F, Andres PAREJA, Maria E MARQUEZ F, Alejandro MARTINEZ M   +3 more
doaj  

7DHC-induced changes of Kv1.3 operation contributes to modified T cell function in Smith-Lemli-Opitz syndrome [PDF]

, 2020
Balajthy, András, Hajdu, Péter, P. Szabó, Gabriella, Panyi, György, Paragh, György, Pethő, Zoltán, Péter, Mária, Somodi, Sándor, Varga, Zoltán, Vígh, László   +9 more
core   +1 more source