Results 61 to 70 of about 257,150 (173)

Eosinophilic acquired Pelger-Huet anomaly in acute myeloblastic leukemia. A cytochemical study

, 1979
Decreased nuclear segmentation and coarse chromatin only in mature eosinophils was seen in a patient with acute myeloblastic leukemia. These eosinophils were considered to have acquired Pelger-Huet anomaly.
F. Tosato, V. Fossaluzza, CHILOSI, Marco
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Autosomal recessive HEM/greenberg skeletal dysplasia is caused by 3 beta-hydroxysterol Delta(14)-reductase deficiency due to mutations in the lamin B receptor gene [PDF]

, 2003
Hydrops-ectopic calcification-"moth-eaten" ( HEM) or Greenberg skeletal dysplasia is an autosomal recessive chondrodystrophy with a lethal course, characterized by fetal hydrops, short limbs, and abnormal chondro-osseous calcification.
Koster, Janet, Waterham, Hans R., Kelley, R.I., Mooyer, P., Kelley, Richard I., Wilcox, WR, van Noort, Gerard, Wilcox, William R., Wanders, R.J.A., Waterham, HR, Oosterwijk, Jan C., Hennekam, Raoul C. M., Oosterwijk, JC, Mooyer, Petra, van Noort, G., Hennekam, RCM, Waterham, H.R., Kelley, RI, Wanders, Ronald J. A., Mooyer, P, Hennekam, R.C.M., Koster, J., Wilcox, W.R., van Noort, G, Oosterwijk, J.C.   +24 more
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Mutations causing Greenberg dysplasia but not Pelger anomaly uncouple enzymatic from structural functions of a nuclear membrane protein [PDF]

, 2010
The lamin B receptor (LBR) is an inner nuclear membrane protein with a structural function interacting with chromatin and lamins, and an enzymatic function as a sterol reductase.
Gravemann, S., Stefan Mundlos, Anuska Mann, Lang, C., Baasanjav, S., Eva Rossier, Nele Schnipper, Ilja Demuth, Amparo Vaya, Sahar Mansour, Monika Zwerger, Vaya, A., Björn Fischer, Christine Lang, Fischer, B., Karbasyian, M., Clayton, P., Rossier, E., Brossuleit, K., Zwerger, M., Mohsen Karbasyian, Moritz Kieslich, Veen, M., Sophia Gravemann, Schnipper, N., Gerd Utermann, Katrin Hoffmann, Mansour, S., Peter Clayton, Sevjidmaa Baasanjav, Hoffmann, K., Mundlos, S., Sperling, K., Demuth, I., Karl Sperling, Sigmar Stricker, Kieslich, M., Katja Brossuleit, Mann, A., Markus Veen, Utermann, G., Stricker, S.   +41 more
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Disorders of vesicular trafficking presenting with recurrent acute liver failure: NBAS, RINT1, and SCYL1 deficiency

Journal of Inherited Metabolic Disease, Volume 48, Issue 1, January 2025.
Abstract Among genetic disorders of vesicular trafficking, there are three causing recurrent acute liver failure (RALF): NBAS, RINT1, and SCYL1‐associated disease. These three disorders are characterized by liver crises triggered by febrile infections and account for a relevant proportion of RALF causes. While the frequency and severity of liver crises
Bianca Peters, Tal Dattner, Lea D. Schlieben, Tian Sun, Christian Staufner, Dominic Lenz   +5 more
wiley   +1 more source

Spermidine Recovers the Autophagy Defects Underlying the Pathophysiology of Cell Trafficking Disorders

Journal of Inherited Metabolic Disease, Volume 48, Issue 1, January 2025.
ABSTRACT Cell trafficking alterations are a growing group of disorders and one of the largest categories of Inherited Metabolic Diseases. They have complex and variable clinical presentation. Regarding neurological manifestations they can present a wide repertoire of symptoms ranging from neurodevelopmental to neurodegnerative disorders.
Yaiza Díaz‐Osorio, Helena Gimeno‐Agud, Rosanna Mari‐Vico, Sofía Illescas, Jose Miguel Ramos, Alejandra Darling, Àngels García‐Cazorla, Alfonso Oyarzábal   +7 more
wiley   +1 more source

Superoxide anion (O2-) production by neutrophils in refractory anemia with excess of blasts. [PDF]

, 1983
The O2- production by neutrophils was examined in 4 cases of refractory anemia with excess of blasts (RAEB) in order to evaluate the possible causes of enhanced susceptibility to infection and to gain some informations on the differentiation of ...
Kohi, Fumikazu, Watanabe, Seiichiro, Kitajima, Koichi, Ohmoto, Eijiro, Fukumoto, Mitsuhiro, Takaoka, Kazuko, Kimura, Ikuro, Sanada, Hiroshi, Inagaki, Noritoshi, Takahashi, Isao   +9 more
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Chronic neutrophilic leukemia and atypical chronic myeloid leukemia: 2024 update on diagnosis, genetics, risk stratification, and management

American Journal of Hematology, Volume 99, Issue 7, Page 1360-1387, July 2024.
Abstract Chronic neutrophilic leukemia (CNL) is a rare BCR::ABL1‐negative myeloproliferative neoplasm (MPN) defined by persistent mature neutrophilic leukocytosis and bone marrow granulocyte hyperplasia. Atypical chronic myeloid leukemia (aCML) (myelodysplastic “[MDS]/MPN with neutrophilia” per World Health Organization [WHO]) is a MDS/MPN overlap ...
Natasha Szuber, Attilio Orazi, Ayalew Tefferi   +2 more
wiley   +1 more source

Genetic and phenotypic landscape of pediatric‐onset epilepsy in 142 Indian families: Counseling and therapeutic implications

Clinical Genetics, Volume 105, Issue 6, Page 639-654, June 2024.
The current study highlights the phenotypic and genotypic insights from 142 Indian families with epilepsy with or without comorbidities. We further study its implications on genetic counseling and therapy. Abstract The application of genomic technologies has led to unraveling of the complex genetic landscape of disorders of epilepsy, gaining insights ...
Purvi Majethia, Namanpreet Kaur, Selinda Mascarenhas, Lakshmi Priya Rao, Shruti Pande, Dhanya Lakshmi Narayanan, Vivekananda Bhat, Shalini S. Nayak, Karthik Vijay Nair, Adarsh Pooradan Prasannakumar, Ankur Chaurasia, Bhagesh Hunakunti, Nalesh Jadhav, Sheeba Farooqui, Mayuri Yeole, Vishaka Kothiwale, Rohit Naik, Veena Bhat, Shrikiran Aroor, Leslie Lewis, Jayashree Purkayastha, Y. Ramesh Bhat, B. K. Praveen, B. L. Yatheesha, Siddaramappa J. Patil, Sheela Nampoothiri, Nutan Kamath, Shahyan Siddiqui, Stephanie Bielas, Katta Mohan Girisha, Suvasini Sharma, Anju Shukla   +31 more
wiley   +1 more source

The connection between Neuroblastoma Amplified Sequence Gene (NBAS) and the Short Stature-Optic-Atrophy-Pelger-Huet Anomaly Syndrome (SOPH) literature review [PDF]

, 2021
Background.Clinical and natural heterogeneity is the main characteristic of inherited multisystem conditions with severe growth restriction. Nonetheless, the source of the originof these diseases are not completely investigated.Afore-mentioned ...
Thong, JY, Halim, A, Halim, M, Li, Z
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PELGER-HUËT ANOMALY: LITERATURE REVIEW [PDF]

, 2016
A anomalia de Pelger-Huët ou hipossegmentação nuclear neutrofílica é um defeito genético benigno caracterizado pela alteração morfológica do núcleo dos neutrófilos segmentados, apresentando diminuição ou incompleta segmentação dos núcleos, demonstrando ...
XAVIER, J. L. P.
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