Heterozygosity for loss-of-function variants in LZTR1 is associated with isolated multiple café-au-lait macules.

Autor: Mastromoro G; Medical Genetics Division, Fondazione IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy; Department of Experimental Medicine, Policlinico Umberto I Hospital, Sapienza University of Rome, Rome, Italy., Santoro C; Department of Women's and Children's Health and General and Specialized Surgery, University of Campania 'Luigi Vanvitelli' Naples, Italy; Clinic of Child and Adolescent Neuropsychiatry, Department of Physical and Mental Health, and Preventive Medicine, University of Campania 'Luigi Vanvitelli,' Naples, Italy., Motta M; Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy., Sorrentino U; Clinical Genetics Unit, Department of Women's and Children's Health, University of Padova, Padua, Italy., Daniele P; Medical Genetics Division, Fondazione IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy., Peduto C; Department of Precision Medicine, University of Campania 'Luigi Vanvitell,' Naples, Italy; Department of Medical Genetics, AP-HP, Hôpital Universitaire Necker-Enfants Malades, Paris, France., Petrizzelli F; Laboratory of Bioinformatics, Fondazione IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy., Tripodi M; Medical Genetics Division, Fondazione IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy., Pinna V; Medical Genetics Division, Fondazione IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy; Cytogenetics and Molecolar Genetics, Unit, Laboratory of Medical Genetics, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Zanobio M; Department of Precision Medicine, University of Campania 'Luigi Vanvitell,' Naples, Italy., Rotundo G; Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy., Bellacchio E; Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy., Lepri F; Cytogenetics and Molecolar Genetics, Unit, Laboratory of Medical Genetics, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Farina A; Department of Precision Medicine, University of Campania 'Luigi Vanvitell,' Naples, Italy., D'Asdia MC; Medical Genetics Division, Fondazione IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy., Piceci-Sparascio F; Medical Genetics Division, Fondazione IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy., Biagini T; Laboratory of Bioinformatics, Fondazione IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy., Petracca A; Medical Genetics Division, Fondazione IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy., Castori M; Medical Genetics Division, Fondazione IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy., Melis D; Department of Medicine, Surgery and Dentistry 'Scuola Medica Salernitana', University of Salerno, Fisciano, Italy., Accadia M; Medical Genetics Service, Hospital 'Cardinale G. Panico,' Tricase, Italy., Traficante G; Medical Genetics Unit, Meyer Children's Hospital IRCCS, Florence, Italy., Tarani L; Department of Pediatrics, Medical Faculty, Sapienza University of Rome, Rome, Italy., Fontana P; Medical Genetics Unit - P.O. Gaetano Rummo-A.O.R.N. San Pio, Benevento, Italy., Sirchia F; Department of Molecular Medicine, University of Pavia, Pavia, Italy; Medical Genetics Unit, IRCCS San Matteo Foundation, Pavia, Italy., Paparella R; Department of Pediatrics, Medical Faculty, Sapienza University of Rome, Rome, Italy., Currò A; Genetic Counseling Service, Department of Pediatrics, Regional Hospital of Bolzano, Bolzano, Italy., Benedicenti F; Genetic Counseling Service, Department of Pediatrics, Regional Hospital of Bolzano, Bolzano, Italy., Scala I; Department of Maternal and Child Health, Section of Pediatrics, Federico II University, Naples, Italy., Dentici ML; Medical Genetics, Bambino Gesù Children Hospital, IRCCS, Rome, Italy., Leoni C; Center for Rare Diseases and Birth Defects, Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario A. Gemelli, IRCCS, Rome, Italy., Trevisan V; Center for Rare Diseases and Birth Defects, Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario A. Gemelli, IRCCS, Rome, Italy., Cecconi A; Ambulatorio Integrato di Genetica Medica, USL Toscana Centro, Florence, Italy., Giustini S; Unit of Dermatology, Department of Internal Medicine and Medical Specialties, 'La Sapienza' University of Rome, Rome, Italy., Pizzuti A; Department of Experimental Medicine, Policlinico Umberto I Hospital, Sapienza University of Rome, Rome, Italy., Salviati L; Clinical Genetics Unit, Department of Women's and Children's Health, University of Padova, Padua, Italy., Novelli A; Cytogenetics and Molecolar Genetics, Unit, Laboratory of Medical Genetics, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Zampino G; Center for Rare Diseases and Birth Defects, Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario A. Gemelli, IRCCS, Rome, Italy., Zenker M; Institute of Human Genetics, University Hospital Magdeburg, Magdeburg, Germany., Genuardi M; Department of Life Sciences and Public Health, Università Cattolica del Sacro Cuore, Rome, Italy; Medical Genetics Unit, Department of Laboratory and Infectious Science, Fondazione Policlinico A. Gemelli IRCCS, Rome, Italy., Digilio MC; Medical Genetics, Bambino Gesù Children Hospital, IRCCS, Rome, Italy., Papi L; Department of Experimental and Clinical, Medical Genetics Unit, Biomedical Sciences 'Mario Serio', University of Florence, Florence, Italy., Perrotta S; Department of Women's and Children's Health and General and Specialized Surgery, University of Campania 'Luigi Vanvitelli' Naples, Italy., Nigro V; Department of Precision Medicine, University of Campania 'Luigi Vanvitell,' Naples, Italy; Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Italy., Castellanos E; Clinical Genomics Research Group, Germans Trias i Pujol Research Institute (IGTP), Can Ruti Campus, Badalona, Barcelona, Spain; Clinical Genomics Unit, Clinical Genetics Service, Northern Metropolitan Clinical Laboratory, Germans Trias i Pujol University Hospital (HGTP), Can Ruti Campus, Badalona, Barcelona, Spain., Mazza T; Laboratory of Bioinformatics, Fondazione IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy., Trevisson E; Clinical Genetics Unit, Department of Women's and Children's Health, University of Padova, Padua, Italy; Institute of Pediatric Research IRP, Fondazione Città della Speranza, Padua, Italy., Tartaglia M; Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy. Electronic address: marco.tartaglia@opbg.net., Piluso G; Department of Precision Medicine, University of Campania 'Luigi Vanvitell,' Naples, Italy., De Luca A; Medical Genetics Division, Fondazione IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy. Electronic address: a.deluca@css-mendel.it.

Publikováno v: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2024 Nov; Vol. 26 (11), pp. 101241. Date of Electronic Publication: 2024 Aug 10.

Café-au-lait Spots and Cleft Palate: Not a Chance Association.

Autor: Yamada M; Center for Medical Genetics, Keio University School of Medicine, Tokyo, Japan., Tanito K; Tsukuda River-City Dermatology Clinic, Tokyo, Japan., Suzuki H; Center for Medical Genetics, Keio University School of Medicine, Tokyo, Japan., Nakato D; Center for Medical Genetics, Keio University School of Medicine, Tokyo, Japan., Miya F; Center for Medical Genetics, Keio University School of Medicine, Tokyo, Japan., Takenouchi T; Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan., Kosaki K; Center for Medical Genetics, Keio University School of Medicine, Tokyo, Japan.

Publikováno v: The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association [Cleft Palate Craniofac J] 2024 Nov; Vol. 61 (11), pp. 1932-1936. Date of Electronic Publication: 2023 Jul 14.

Jaffe-Campanacci syndrome; a case series and review of the literature.

Autor: Sabry AO; Department of Orthopedics, Faculty of Medicine, Cairo University, Cairo, Egypt. Ahmed.O.Sabry@kasralainy.edu.eg., Abolenain AS; Department of Orthopedics, Faculty of Medicine, Cairo University, Cairo, Egypt., Mostafa N; Department of Orthopedics, Faculty of Medicine, Cairo University, Cairo, Egypt., Ramadan A; Department of Orthopedics, Faculty of Medicine, Cairo University, Cairo, Egypt., Ghanem M; Department of Orthopedics, Faculty of Medicine, Cairo University, Cairo, Egypt.

Publikováno v: BMC musculoskeletal disorders [BMC Musculoskelet Disord] 2024 Jun 27; Vol. 25 (1), pp. 502. Date of Electronic Publication: 2024 Jun 27.

Hydroxychloroquine attenuates double-stranded RNA-stimulated hyper-phosphorylation of tristetraprolin/ZFP36 and AU-rich mRNA stabilization.

Autor: Hitti EG; Department of Molecular Biomedicine, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia., Muazzen Z; Department of Molecular Biomedicine, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia., Moghrabi W; Department of Molecular Biomedicine, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia., Al-Yahya S; Department of Molecular Biomedicine, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia., Khabar KSA; Department of Molecular Biomedicine, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia.

Publikováno v: Immunology [Immunology] 2024 Nov; Vol. 173 (3), pp. 511-519. Date of Electronic Publication: 2024 Jul 24.

THE MAN WHO GAVE TOO MUCH.

Autor: Au-Yeung, Angel, Jeans, David

Publikováno v: Forbes. Apr/May2023, Vol. 206 Issue 2, p106-114. 6p. 4 Color Photographs.