Results 71 to 80 of about 6,016 (235)

Denosumab treatment for fibrous dysplasia [PDF]

, 2012
Fibrous dysplasia (FD) is a skeletal disease caused by somatic activating mutations of the cyclic adenosine monophosphate (cAMP)‐regulating protein, α‐subunit of the Gs stimulatory protein (G s α).
Albright, Bianco, Bone, Collins, Collins, Collins, Dumitrescu, Fizazi, Fizazi, Gerstenfeld, Giusti, Gonzalez-Suarez, Happle, Ishida, Kong, Kyriakos, Lichtenstein, Lichtenstein, McClung, McCune, Mikami, Molyneux, Parisi, Pelzmann, Piersanti, Plotkin, Rauch, Reid, Riminucci, Riminucci, Riminucci, Riminucci, Riminucci, Roodman, Sasaki, Schramek, Schwindinger, Stanton, Stopeck, Thomas, van Persijn van Meerten, Weinstein   +41 more
core   +1 more source

Hedgehog Signalling in Osteogenesis and Bone Metabolism: Molecular Mechanisms, Regulatory Networks and Implications for Skeletal Disease

Journal of Cellular and Molecular Medicine, Volume 29, Issue 16, August 2025.
ABSTRACT The Hedgehog (Hh) signalling pathway serves as a fundamental regulator in bone development and homeostasis, translating extracellular signals into precise transcriptional programmes that govern osteogenic differentiation and bone remodelling.
Rohey Njie, Shihan Xu, Taofen Wu, Jiashun Pi, Sisi Lin, Pengxiang Zhang, Jiaqi Wang, Qi Dai, Hui Shen, Nenghua Zhang, Guiqian Chen   +10 more
wiley   +1 more source

A Dominant Mutation in Gαs‐Protein Increases Hair Pigmentation

Pigment Cell &Melanoma Research, Volume 38, Issue 3, May 2025.
ABSTRACT We have identified a chemically induced mouse mutation which increases the eumelanic hair pigmentation. We identify a coding mutation, A3533G, resulting in an amino acid substitution Y1133C, in the Gnas gene encoding the Gαs subunit of the tripartite G‐protein, consistent with an activation of signalling via MC1R.
Philip S. Goff, Peter Budd, Darren W. Logan, Margaret Keighren, Marta Cantero, Lisa McKie, Lluis Montoliu, Ian J. Jackson, Elena V. Sviderskaya   +8 more
wiley   +1 more source

A patient with newly diagnosed breast cancer found to have mosaic TP53 likely pathogenic variant

CA: A Cancer Journal for Clinicians, EarlyView.
Hetal D. Mistry, MacKenzie R. Adams, Charu Taneja, Lauren J. Massingham, Elizabeth H. Dibble, Kara L. Leonard, Jesse Hart, Galina G. Lagos, Mary Anne Fenton   +8 more
wiley   +1 more source

Leptomeningeal Seeding of Pituitary Adenoma in a Young Lady With Neglected Gigantism: An Extremely Rare Case Report

Clinical Case Reports, Volume 13, Issue 4, April 2025.
ABSTRACT Pituitary neuroendocrine tumors can sometimes present with leptomeningeal seeding at their initial diagnosis, emphasizing the need for thorough evaluation in cases of leptomeningeal involvement. Additionally, it is crucial for general physicians to inquire about a patient's menstrual status, particularly in low socioeconomic conditions, as ...
Sadegh Bagherzadeh, Milad Shafizadeh, Seyed Mohammad Tavangar, Alireza Khoshnevisan   +3 more
wiley   +1 more source

Treatment of Pathological Bone Fractures in a Patient with McCune-Albright Syndrome

Case Reports in Endocrinology, 2013
McCune-Albright syndrome is a rare genetic disorder with typical skeletal and endocrine manifestations. The disease course is complicated by recurrent fractures resulting from polyostotic fibrous dysplasia and the treatment is thus primarily directed at ...
Jana Kollerova, Tomas Koller, Zuzana Zelinkova, Ludmila Kostalova, Juraj Payer   +4 more
doaj   +1 more source

A Rare Case of ACTH‐Secreting Pituitary Adenoma in a Pediatric Patient. Diagnosis and Management: Case Report and Literature Review

Clinical Case Reports, Volume 13, Issue 4, April 2025.
ABSTRACT Due to its rare incidence, pituitary adenoma requires high vigilance and suspicion. Therefore, physicians should consider this differential diagnosis and perform the necessary workup, such as an overnight or standard dexamethasone suppression test and brain magnetic resonance imaging (MRI), to rule it out if sudden hormonal changes without any
Shadi Niliyeh, Fatemeh Sayarifard, Ali Moradi, Aria Setoodeh, Pouya Ebrahimi   +4 more
wiley   +1 more source

Radiographic classification of coronal plane femoral deformities in polyostotic fibrous dysplasia [PDF]

, 2014
Fibrous dysplasia of bone is a skeletal dysplasia with a propensity to affect the femur in its polyostotic form, leading to deformity, fracture, and pain.
Boyce, A, Collins, M, Corsi, A, De Maio, F, Farsetti, P, Ippolito, E   +5 more
core   +1 more source

Some aspects of precocious puberty in preschool-age girls [PDF]

РМЖ. Мать и дитя, 2022
Yu.Yu. Chebotareva1, Yu.A. Petrov1, M.A. Rodina2 1Rostov State Medical University, Rostov-on-Don, Russian Federation 2Medical Center Sem’ya, Rostov-on-Don, Russian Federation Precocious puberty (PP) remains a challenging issue for pediatrics,
Yu.Yu. Chebotareva, Yu.A. Petrov, M.A. Rodina   +2 more
doaj  

A Case of Atypical McCune-Albright Syndrome with Vaginal Bleeding [PDF]

, 2011
Background: McCune-Albright syndrome (MAS) is a rare non-inherited disorder characterized by the clinical triad of precocious puberty, cafe-au-lait skin lesions, and fibrous dysplasia of bone.
Hashemipour, M., Hekmatnia, A., Hovsepian, S., Kelishadi, R., Rostampour, N.   +4 more
core   +1 more source