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    339 results match your criteria Griscelli Syndrome

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    Hematopoietic stem cell transplantation in children with Griscelli syndrome: A single-center experience.
    Pediatr Transplant 2017 Aug 23. Epub 2017 Aug 23.
    Division of Bone Marrow Transplantation, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
    GS2 is a rare autosomal recessive disease characterized by hypopigmentation, variable immunodeficiency with HLH. HSCT is the only curative treatment for GS2. We analyzed the outcome of 10 children with GS2 who underwent HSCT at our center between October 1997 and September 2013. Read More

    Analogs of human genetic skin disease in domesticated animals.
    Int J Womens Dermatol 2017 Sep 3;3(3):170-175. Epub 2017 Mar 3.
    Department of Dermatology, University of Connecticut School of Medicine, Farmington, CT.
    Genetic skin diseases encompass a vast, complex, and ever expanding field. Recognition of the features of these diseases is important to ascertain a correct diagnosis, initiate treatment, consider genetic counseling, and refer patients to specialists when the disease may impact other areas. Because genodermatoses may present with a vast array of features, it can be bewildering to memorize them. Read More

    Light Microscopy and Polarized Microscopy: A Dermatological Tool to Diagnose Gray Hair Syndromes.
    Int J Trichology 2017 Jan-Mar;9(1):38-41
    Department of Pediatrics, Division of Pediatric Neurology, Rainbow Children's Tertiary Care Centre, Hyderabad, Telangana, India.
    Gray hair syndromes are rare syndromes which have an autosomal recessive inheritance and are characterized by pigmentary dilution of skin and hair, defects in immunological function, and nervous system defects. They comprise three disorders namely Chediak-Higashi syndrome (CHS), Griscelli syndrome (GPS), and Elejalde syndrome. Clinically, it is difficult to distinguish these disorders as their clinical features may overlap. Read More

    Polymorphic gastric lesions and hemorrhage after first dose of chemotherapy in a child with diffuse large B-cell lymphoma.
    Clin Res Hepatol Gastroenterol 2017 Jul 27. Epub 2017 Jul 27.
    Hospices civils de Lyon, hôpital Femme-Mère-Enfant, service de gastroenterologie, hepatologie et nutrition pédiatrique, 59, boulevard Pinel, 69677 Bron cedex, France.

    A RAB27A duplication in several cases of Griscelli syndrome type 2: An explanation for cases lacking a genetic diagnosis.
    Hum Mutat 2017 Oct 19;38(10):1355-1359. Epub 2017 Jun 19.
    Centre d'Etudes des Déficits Immunitaires, Assistance Publique-Hôpitaux de Paris, Hôpital Necker-Enfants Malades, Paris, France.
    Griscelli syndrome type 2 (GS2) is a rare and often fatal autosomal recessive, hyperinflammatory disorder. It is associated with hypopigmentation of the skin and the hair, resulting in the characteristic pigment accumulation and clumping in the hair shaft. Loss-of-function mutations in RAB27A, resulting from point mutations, short indel, or large deletions, account for all the cases reported to date. Read More

    Griscelli syndrome subtype 2 with hemophagocytic lympho-histiocytosis: A case report and review of literature.
    Intractable Rare Dis Res 2017 Feb;6(1):76-79
    Department of Pediatrics, Sawai Man Singh Medical College and Hospital, Jaipur, Rajasthan, India.
    Griscelli syndrome (GS) is a rare autosomal recessive disorder resulting in pigmentary dilution of the skin and hair with variable phenotypes depending upon subtypes. Mutations in 3 distinct genes MYO5A, RAB27A, MLPH are responsible for 3 subtypes (GS1, GS2, and GS3) of GS respectively. GS subtype 2 commonly develops hemophagocytic lymphohistiocytosis (HLH) and recurrent infections due to immunodeficiency. Read More

    "Road-Dividing Line"-Like Pigmentation of Hair as a Diagnostic Clue for Griscelli Syndrome.
    Skin Appendage Disord 2017 Jan 27;2(3-4):143-145. Epub 2016 Oct 27.
    2nd Department of Dermatology and Venereology, National and Kapodistrian University of Athens Medical School, "Attikon" University General Hospital, Athens, Greece.
    We report a case of a 5-year-old girl with physical and psychomotor retardation, acquired microcephaly, and history of recurrent infections. Dermoscopic and microscopic hair examination revealed a "road-dividing line"-like pigmentation of hair shafts. The combination of history, clinical findings, and hair examination led to the diagnosis of Griscelli syndrome type II. Read More

    Griscelli syndrome type-3.
    Indian Dermatol Online J 2016 Nov-Dec;7(6):506-508
    Department of Dermatology, BJ Medical College and Civil Hospital, Ahmedabad, Gujarat, India.
    Griscelli syndrome (GS) is a rare autosomal recessive multisystem disorder of pigmentary dilution of skin, silver gray hair, variable immunodeficiency, neurological impairment, and abnormal accumulation of melanosomes in melanocytes. GS type 3 is characterized by hypomelanosis with no immunological and neurological manifestation. Prognosis is very good in type 3 GS and usually require no active intervention, as opposed to type 1 and 2 where early diagnosis and treatment plays a crucial role in patient's survival. Read More

    Myosins: Domain Organisation, Motor Properties, Physiological Roles and Cellular Functions.
    Handb Exp Pharmacol 2017 ;235:77-122
    Cambridge Institute for Medical Research, University of Cambridge, Cambridge, CB2 0XY, UK.
    Myosins are cytoskeletal motor proteins that use energy derived from ATP hydrolysis to generate force and movement along actin filaments. Humans express 38 myosin genes belonging to 12 classes that participate in a diverse range of crucial activities, including muscle contraction, intracellular trafficking, cell division, motility, actin cytoskeletal organisation and cell signalling. Myosin malfunction has been implicated a variety of disorders including deafness, hypertrophic cardiomyopathy, Usher syndrome, Griscelli syndrome and cancer. Read More

    Generation of an induced pluripotent stem cell line from a patient with hereditary multiple endocrine neoplasia 2A (MEN2A) syndrome with RET mutation.
    Stem Cell Res 2016 Jun 27;17(1):154-157. Epub 2016 Jun 27.
    INSERM U935, Université Paris Sud, 94800 Villejuif, France; ESTeam Paris Sud, INSERM U935, Université Paris Sud, Université Paris-Saclay, 94800 Villejuif, France; INGESTEM National IPSC Infrastructure, 94800 Villejuif, France; Division of Hematology, Paris Sud University hospitals, Le Kremlin Bicêtre 94275, Villejuif 94800, France. Electronic address:
    Multiple Endocrine Neoplasia Type 2A (MEN2A) is a cancer-predisposing syndrome that affects patients with germline RET mutations. The clinical spectrum of the syndrome includes medullary thyroid carcinoma (MTC), pheochromocytoma, hyperparathyroidism and cutaneous lichen amyloidosis (CLA) and/or Hirschsprung disease in some variants. Currently, there is no satisfactory animal model recapitulating all the features of the disease especially at the level of stem cells. Read More

    Spontaneous repigmentation of silvery hair in an infant with congenital hydrops fetalis and hypoproteinemia.
    Cutis 2016 Jun;97(6):E1-5
    Department of Dermatology, Hospital Clínic, University of Barcelona, Spain.
    Silvery hair is a characteristic finding of 3 rare autosomal recessive disorders: Chédiak-Higashi syndrome (CHS), Elejalde syndrome (ES), and Griscelli syndrome (GS). We report the case of a 2-month-old male infant with transient silvery hair and generalized hypopigmentation of the skin and eyes who did not have one of these classic causative disorders. The patient was delivered at 35 weeks' gestation with congenital hydrops fetalis associated with a chromosomal abnormality (46,XY,add[2],[p23]), hypothyroidism, hypoproteinemia, and hypogammaglobulinemia. Read More

    PARTIAL OCULOCUTANEOUS ALBINISM AND IMMUNODEFICIENCY SYNDROMES: TEN YEARS EXPERIENCE FROM A SINGLE CENTER IN TURKEY.
    Genet Couns 2016 ;27(1):67-76
    Background And Aim: Partial oculocutaneous albinism and immunodeficiency (OCA-ID) diseases are autosomal recessive syndromes characterized by partial hypopigmentation and recurrent infections. Moreover, some OCA-ID syndromes confer susceptibility to develop a life-threatening hyperinflammatory condition called hemophagocytic lymphohistiocytosis (HLH). We investigated the genetic, clinical and immunological characteristics of 20 OCA patients. Read More

    Hematopoietic Stem Cell Transplant for Primary Immunodeficiency Diseases: A Single-Center Experience.
    Exp Clin Transplant 2017 Jun 21;15(3):337-343. Epub 2016 Mar 21.
    From the Department of Pediatric Immunology, and the Department of Pediatric Hematology and Oncology, Erciyes University School of Medicine, Kayseri, Turkey.
    Objectives: The only curative treatment for many patients with primary immunodeficiency disease is hematopoietic stem cell transplant. In this study, we report the transplant outcomes of patients with primary immunodeficiency diseases.

    Materials And Methods: Herein, we present the transplant outcomes of 20 patients with primary immunodeficiency disease seen at our center in Kayseri, Turkey, from 2010 to 2015. Read More

    Griscelli syndrome type 2: A rare and fatal syndrome in a South Indian boy.
    Indian J Pathol Microbiol 2016 Jan-Mar;59(1):113-6
    Department of Pathology, Rangaraya Medical College, Kakinada, Andhra Pradesh, India.
    Griscelli syndrome (GS) is a rare autosomal recessive disorder caused by mutation in the MYO5A (GS1), RAB27A (GS2), and MLPH (GS3) genes, characterized by a common feature, partial albinism. The common variant of three, GS type 2, in addition, shows primary immunodeficiency which leads to recurrent infections and hemophagocytic lymphohistiocytosis. We, herewith, describe a case of GS type 2, in a 4-year-old male child who presented with chronic and recurrent fever, lymphadenopathy, hepatosplenomegaly, and secondary neurological deterioration; highlighting the cytological and histopathological features of lymph nodes. Read More

    Severe anemia due to parvovirus B19 in a silver haired boy.
    Indian J Pathol Microbiol 2016 Jan-Mar;59(1):110-2
    Department of Pediatrics, King George's Medical University, Lucknow, Uttar Pradesh, India.
    Griscelli syndrome (GS) is a rare autosomal recessive immunodeficiency disorder in which the affected children present with characteristic silvery-white hairs. The hair microscopy of these children is characteristic and is helpful in differentiating GS from Chediak-Higashi syndrome which also presents with immunodeficiency and silver hairs. We report a 17-month-old boy with GS type 2 who presented with severe anemia. Read More

    Optimization of cerebellar purkinje neuron cultures and development of a plasmid-based method for purkinje neuron-specific, miRNA-mediated protein knockdown.
    Methods Cell Biol 2016 2;131:177-97. Epub 2015 Sep 2.
    Cell Biology and Physiology Center, National Heart, Lung Blood Institute, National Institutes of Health, MD, USA.
    We present a simple and efficient method to knock down proteins specifically in Purkinje neurons (PN) present in mixed mouse primary cerebellar cultures. This method utilizes the introduction via nucleofection of a plasmid encoding a specific miRNA downstream of the L7/Pcp2 promoter, which drives PN-specific expression. As proof-of-principle, we used this plasmid to knock down the motor protein myosin Va, which is required for the targeting of smooth endoplasmic reticulum (ER) into PN spines. Read More

    Silvery Hair with Speckled Dyspigmentation: Chediak-Higashi Syndrome in Three Indian Siblings.
    Int J Trichology 2015 Jul-Sep;7(3):133-5
    Department of Dermatology and Venereology, Vijayanagara Institute of Medical Sciences, Bellary, Karnataka, India.
    Silvery hair is a common feature of Chediak-Higashi syndrome (CHS), Griscelli syndrome, and Elejalde syndrome. CHS is a rare autosomal recessive disorder characterized by partial oculocutaneous albinism, frequent pyogenic infections, and the presence of abnormal large granules in leukocytes and other granule containing cells. A 6-year-old girl had recurrent respiratory infections, speckled hypo- and hyper-pigmentation over exposed areas, and silvery hair since early childhood. Read More

    Griscelli Syndrome Type 3: Two New Cases and Review of the Literature.
    Pediatr Dermatol 2015 Nov-Dec;32(6):e245-8. Epub 2015 Sep 4.
    Department of Dermatology, Sheba Medical Center, Tel Hashomer, Ramat Gan, Israel.
    A 3-year-old Arab boy with a history of hypoplastic left heart syndrome was referred to the pediatric dermatology clinic at Sheba Medical Center for evaluation of hypomelanosis, manifested by fair skin pigmentation and silvery-grey hair, eyebrows, and eyelashes. The child had one older brother with similar hypopigmentation and another older brother who had died of congenital heart disease. The child had no history of neurologic deficits or immunodeficiency and no additional findings on clinical evaluation. Read More

    Genomic instability of human embryonic stem cell lines using different passaging culture methods.
    Mol Cytogenet 2015 23;8:30. Epub 2015 Apr 23.
    AP-HP, Histologie-Embryologie-Cytogénétique, Hôpitaux Universitaires Paris Sud, Clamart, F-92141 France ; Université Paris Sud, Le Kremlin-Bicêtre, F-94275 France ; Esteam Paris Sud INSERM UMR-S 935, Villejuif, F-94801 France.
    Background: Human embryonic stem cells exhibit genomic instability that can be related to culture duration or to the passaging methods used for cell dissociation. In order to study the impact of cell dissociation techniques on human embryonic stem cells genomic instability, we cultured H1 and H9 human embryonic stem cells lines using mechanical/manual or enzymatic/collagenase-IV dissociation methods. Genomic instability was evaluated at early (p60) passages by using oligonucleotide based array-comparative genomic hybridization 105 K with a mean resolution of 50 Kb. Read More

    Genodermatoses.
    J Pharm Bioallied Sci 2015 Apr;7(Suppl 1):S203-6
    Department of Oral pathology and Microbiology, Sree Balaji Dental College and Hospital, Bharath University, Chennai, Tamil Nadu, India.
    Genodermatoses are an inherited disorder, present with multisystem involvement. Help us to identify regular mutations and appalling skin diseases with recessive inheritance. Genetic heterogeneity is very common, and molecular diagnosis requires a broad effort. Read More

    Partial Oculocutaneous Albinism: Two Siblings with Features of both Hermansky Pudlak and Waardenburg's Syndrome.
    J Coll Physicians Surg Pak 2015 Apr;25 Suppl 1:S43-4
    Department of Ophthalmology, Armed Forces Institute of Ophthalmology, Rawalpindi.
    Albinism is an inherited abnormality of melanin synthesis with incidence of one per 20,000 births. Its clinical manifestations are related to the reduction or absence of pigmentation in the visual system and/or the skin and teguments. The clinical spectrum of Oculocutaneous Albinism (OCA) has four types ranging from OCA 1 - 4, of which OCA 1, A-1 is the most severe form. Read More

    Seizure as the presenting manifestation in Griscelli syndrome type 2.
    Pediatr Neurol 2015 May 26;52(5):535-8. Epub 2015 Jan 26.
    Department of Pediatrics, Advanced Pediatrics Centre, Postgraduate Institute of Medical Education and Research, Chandigarh, India.
    Background: Griscelli syndrome is an autosomal recessive disease that is characterized by hypopigmentation of the skin and hair, presence of large clumps of pigment in hair shafts, and accumulation of melanosomes in melanocytes; it resembles Chediak-Higashi syndrome. Griscelli syndrome type 2 is caused by mutations in the RAB27A gene and has predominant immunologic abnormalities.

    Method: A retrospective case analysis highlighting neurological complications in an individual with Griscelli syndrome type 2. Read More

    Griscelli syndrome: a case report.
    Iran J Child Neurol 2014 ;8(4):72-5
    Department of Pediatric Neurology, Ghaem Hospital, School of Medicine, Mashhad University of Medical Sciences, Mashhahd, Iran.
    Objective: Griscelli syndrome (GS) is a rare autosomal recessive immune deficiency disorder that presents with pigmentary dilution of the skin and hair, recurrent skin and pulmonary infections, neurologic problems, hypogammaglobulinemia, and variable cellular immunodeficiency. Three mutations have been described in different phenotypes of the disease. In most of cases, GS leads to death in the first decade of life. Read More

    Incidence and clinical presentation of primary hemophagocytic lymphohistiocytosis in Sweden.
    Pediatr Blood Cancer 2015 Feb 8;62(2):346-352. Epub 2014 Nov 8.
    Childhood Cancer Research Unit, Department of Women's and Children's Health, Karolinska Institutet, Karolinska University Hospital Solna, Stockholm, Sweden.
    Background: Primary hemophagocytic lymphohistiocytosis (HLH) represents a group of inherited hyperinflammatory immunodeficiencies, including familial HLH (FHL), Griscelli syndrome type 2 (GS2), and X-linked lymphoproliferative syndrome (XLP). We previously reported an annual incidence of suspected primary HLH in Sweden 1971-1986 of 0.12 per 100,000 children. Read More

    Hemophagocytic lymphohistiocytosis caused by dominant-negative mutations in STXBP2 that inhibit SNARE-mediated membrane fusion.
    Blood 2015 Mar 6;125(10):1566-77. Epub 2015 Jan 6.
    Department of Pathology and Laboratory Medicine, and.
    Familial hemophagocytic lymphohistiocytosis (F-HLH) and Griscelli syndrome type 2 (GS) are life-threatening immunodeficiencies characterized by impaired cytotoxic T lymphocyte (CTL) and natural killer (NK) cell lytic activity. In the majority of cases, these disorders are caused by biallelic inactivating germline mutations in genes such as RAB27A (GS) and PRF1, UNC13D, STX11, and STXBP2 (F-HLH). Although monoallelic (ie, heterozygous) mutations have been identified in certain patients, the clinical significance and molecular mechanisms by which these mutations influence CTL and NK cell function remain poorly understood. Read More

    Late-onset hemophagocytic lymphohistiocytosis (HLH) in an adult female with Griscelli syndrome type 2 (GS2).
    Ann Hematol 2015 Jun 30;94(6):1057-60. Epub 2014 Dec 30.
    Department of Hematology and Oncology, Schwarzwald-Baar Clinic, Academic Teaching Hospital University of Freiburg, Klinikstr. 11, 78052, Villingen-Schwenningen, Germany,

    Griscelli syndrome.
    Med J Malaysia 2014 Aug;69(4):193-4
    University of Malaya, Department of Paediatrics, Kuala Lumpur, Malaysia.
    We report a case of Griscelli Syndrome (GS). Our patient initially presented with a diagnosis of haemophagocytic lymphistiocytosis (HLH). Subsequent microscopic analysis of the patient's hair follicle revealed abnormal distribution of melanosomes in the shaft, which is a hallmark for GS. Read More

    A case of Griscelli syndrome.
    Dermatol Online J 2014 Nov 15;20(11). Epub 2014 Nov 15.
    The Mission Hospital, Durgapur, West Bengal, India.
    A hallmark of Griscelli syndrome, a rare autosomal recessive disorder, is hair hypopigmentation characterized by a silver-gray sheen and the presence of large clusters of pigment unevenly distributed in the hair shaft. Either a primary neurological impairment or immune abnormalities are associated with this phenotype. We report the case of a 10-year-old child of consanguineous parents. Read More

    Cerebellar involvement of Griscelli syndrome type 2.
    BMJ Case Rep 2014 Oct 14;2014. Epub 2014 Oct 14.
    Department of Pediatric Neurology, Gaziantep Children's Hospital, Gaziantep, Turkey.
    Griscelli syndrome type 2 is characterised by partial albinism and primary immunodeficiency. We present a case of a 3-year-old girl diagnosed with cerebellar involvement of Griscelli syndrome type 2. Neurological complications may accompany Griscelli syndrome, however, to the best of my knowledge there are only a few case reports of cerebellar involvement of Griscelli syndrome type 2 in the literature. Read More

    Patients with Griscelli syndrome and normal pigmentation identify RAB27A mutations that selectively disrupt MUNC13-4 binding.
    J Allergy Clin Immunol 2015 May 11;135(5):1310-8.e1. Epub 2014 Oct 11.
    Pediatric Oncology Network, Istituto Toscano Tumori (I.T.T.), Florence, Italy. Electronic address:
    Background: Familial hemophagocytic lymphohistiocytosis (FHL) is a rare and often fatal disorder characterized by defective cellular cytotoxicity and hyperinflammation, and the only cure known to date is hematopoietic stem cell transplantation. Mutations in RAB27A, LYST, and AP3B1 give rise to FHL associated with oculocutaneous albinism, and patients with FHL are usually only screened for mutations in these genes when albinism is observed. A number of patients with FHL and normal pigmentation remain without a genetic diagnosis. Read More

    [Hypomelanoses transmitted from generation to generation].
    Postepy Hig Med Dosw (Online) 2014 Sep 3;68:1081-90. Epub 2014 Sep 3.
    Śląski Uniwersytet Medyczny w Katowicach, Wydział Farmaceutyczny z Oddziałem Medycyny Laboratoryjnej, Katedra i Zakład Chemii i Analizy Leków.
    Inherited diseases of pigmentation were among the first traits studied in humans because of their easy recognition. This article presents selected hypopigmentary disorders, which can be divided into hypomelanocytoses and hypomelanoses. Hereditary hypomelanoses are caused by abnormal melanin biosynthesis as well as by abnormal transfer of mature melanosomes to melanocyte dendrites and to neighboring cells. Read More

    Congenital hemophagocytic lymphohistiocytosis presenting as thrombocytopenia in a newborn.
    J Pediatr Hematol Oncol 2015 May;37(4):300-3
    *Departments of Pediatrics, Duke University Medical Center, Durham, NC †Department of Pediatrics, Eastern Virginia Medical School, Norfolk, VA ‡Department of Pediatrics, Rady Children's Hospital, San Diego, CA.
    Hemophagocytic lymphohistiocytosis (HLH) is a disease caused by dysregulation and hyperactivation of the immune system, and can be familial or acquired. HLH presenting in infancy can be rapidly fatal if not promptly recognized and treated. Congenital HLH can be caused by various genetic mutations or part of immunodeficiency syndromes. Read More

    An Indian boy with griscelli syndrome type 2: case report and review of literature.
    Indian J Dermatol 2014 Jul;59(4):394-7
    Department of Women's and Children's Health, Childhood Cancer Research Unit, Karolinska Institutet, Karolinska University Hospital, Solna, Stockholm, Sweden.
    Griscelli syndrome 2 is a rare autosomal recessive disorder of pigmentary dilution of hair, skin, splenohepatomegaly, pancytopenia, immune and neurologic dysfunction. Clinical course is characterized by recurrent infection triggered by uncontrolled T-lymphocyte and macrophage activation, called hemophagocytic syndrome. Since the primary presentation is with depigmented hair, we attempt to highlight diagnostic difficulties in such cases in developing countries like ours where pigmentary changes in hair and skin are commonly attributed to severe malnutrition. Read More

    A rare pigmentary disorder in two non-identical siblings: Griscelli Syndrome -type 3.
    Dermatol Online J 2014 Jul 15;20(7). Epub 2014 Jul 15.
    Pt BDS PGIMS, Rohtak, Haryana, India.
    Griscelli Syndrome (GS) is a rare autosomal recessive disorder characterized by pigmentary dilution of the hair and skin (partial albinism). Three different types (1-3) caused by mutation in three different genes have been described. Patients with GS type 1 have primary central nervous system dysfunction; type 2 patients commonly develop hemophagocytic lymphohistiocytosis and type 3 patients present with partial albinism only. Read More

    Acute Phase Reaction after Femur Fracture in a Child with Griscelli Syndrome.
    Turk J Anaesthesiol Reanim 2014 Jun 11;42(3):154-7. Epub 2014 Mar 11.
    Department of Anaesthesiology and Reanimation, Gazi University Faculty of Medicine, Ankara, Turkey.
    Griscelli syndrome (GS) is an autosomal recessive disorder that is characterized by partial albinism of the skin and hair shaft. Prompt and early diagnosis is a crucial step for the follow up and management of GS, which would otherwise dramatically decrease the life expectancy of the patients. This case report presents the clinical course of a femoral fracture treated with closed reduction and pelvic-pedal cast, and progression of acute phase reaction during the follow up period. Read More

    Novel skin phenotypes revealed by a genome-wide mouse reverse genetic screen.
    Nat Commun 2014 Apr 11;5:3540. Epub 2014 Apr 11.
    Centre for Stem Cells and Regenerative Medicine, King's College London, Guy's Hospital, London SE1 9RT, UK.
    Permanent stop-and-shop large-scale mouse mutant resources provide an excellent platform to decipher tissue phenogenomics. Here we analyse skin from 538 knockout mouse mutants generated by the Sanger Institute Mouse Genetics Project. We optimize immunolabelling of tail epidermal wholemounts to allow systematic annotation of hair follicle, sebaceous gland and interfollicular epidermal abnormalities using ontology terms from the Mammalian Phenotype Ontology. Read More

    Teaching neuroImages: Griscelli syndrome and CNS lymphohistiocytosis.
    Neurology 2014 Apr;82(14):e122-3
    From the Unit of Pediatric Neurology and Neurodevelopment (A.G.S., P.S.), Department of Pediatrics (S.N., J.K.S., A.R.), and Department of Radiodiagnosis (S.V.), Postgraduate Institute of Medical Education and Research, Chandigarh, India.
    A 3-year-old boy developed viral illness followed by fever, altered sensorium, focal seizures, and neuroregression. Examination showed silvery-gray hair (figure 1A), bilateral papilledema, spastic quadriparesis, brisk muscle-stretch reflexes, extensor plantars, hepatosplenomegaly, and normally pigmented skin, iris, and retina. Hair microscopy confirmed Griscelli syndrome (GS) (figure 1, B-D). Read More

    Griscelli syndrome type 2: a novel mutation in RAB27A gene with different clinical features in 2 siblings: a diagnostic conundrum.
    Korean J Pediatr 2014 Feb 24;57(2):91-5. Epub 2014 Feb 24.
    Department of Pathology, G. B. Pant Hospital, New Delhi, India.
    Griscelli syndrome type 2 (GS2) is a rare autosomal recessive disease caused by mutations in the RAB27A gene. It is characterized by cutaneous hypopigmentation, immunodeficiency, and hemophagocytic lymphohistiocytosis. We describe 2 brothers who had GS2 with clinically diverse manifestations. Read More

    Rab27a was identified as a prognostic biomaker by mRNA profiling, correlated with malignant progression and subtype preference in gliomas.
    PLoS One 2014 26;9(2):e89782. Epub 2014 Feb 26.
    Department of Neurosurgery, the Second Affiliated Hospital of Harbin Medical University, Harbin, China.
    Purpose: Rab27a belongs to the Rab small GTPase superfamily. The protein is membrane-bound and may be involved in protein transport and small GTPase-mediated signal transduction. Mutations in this gene are associated with Griscelli syndrome type 2. Read More

    The GTPase-deficient Rab27A(Q78L) mutant inhibits melanosome transport in melanocytes through trapping of Rab27A effector protein Slac2-a/melanophilin in their cytosol: development of a novel melanosome-targetinG tag.
    J Biol Chem 2014 Apr 28;289(16):11059-67. Epub 2014 Feb 28.
    From the Laboratory of Membrane Trafficking Mechanisms, Department of Developmental Biology and Neurosciences, Graduate School of Life Sciences, Tohoku University, Aobayama, Aoba-ku, Sendai, Miyagi 980-8578, Japan.
    The small GTPase Rab27A is a crucial regulator of actin-based melanosome transport in melanocytes, and functionally defective Rab27A causes human Griscelli syndrome type 2, which is characterized by silvery hair. A GTPase-deficient, constitutively active Rab27A(Q78L) mutant has been shown to act as an inhibitor of melanosome transport and to induce perinuclear aggregation of melanosomes, but the molecular mechanism by which Rab27A(Q78L) inhibits melanosome transport remained to be determined. In this study, we attempted to identify the primary cause of the perinuclear melanosome aggregation induced by Rab27A(Q78L). Read More

    Hemophagocytic lymphohistiocytosis in infants: a single center experience from India.
    Pediatr Hematol Oncol 2014 Apr 2;31(3):285-92. Epub 2014 Jan 2.
    1Pediatric Hematology Oncology & Bone Marrow Transplant Unit, Department of Pediatrics, Institute of Child Health, Sir Ganga Ram Hospital , Old Rajinder Nagar, New Delhi , India.
    There is paucity of outcome data for hemophagocytic lymphohistiocytosis (HLH) in infants from India, especially post stem cell transplant (SCT). We report outcome data of eight infants diagnosed with HLH. Mean age was 7. Read More

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